Kirsty McWalter

Affiliations
  • GeneDx, Gaithersburg, MD, 20877, USA.
ORCID: http://orcid.org/0000-0002-1654-9036

Publications (81)

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.

Nature communications
Avec: Laure Asselin , José Rivera Alvarez , Solveig Heide , Camille S Bonnet , Peggy Tilly , Hélène Vitet , Chantal Weber , Carlos A Bacino , Kristin Baranaño , Anna Chassevent , Amy Dameron , Laurence Faivre , Neil A Hanchard , Sonal Mahida , Kirsty McWalter , Cyril Mignot , Caroline Nava , Agnès Rastetter , Haley Streff , Christel Thauvin-Robinet , Marjan M Weiss , Gladys Zapata , Petra J G Zwijnenburg , Frédéric Saudou , Christel Depienne , Christelle Golzio , Delphine Héron , Juliette D Godin

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

American journal of human genetics
Avec: David B Beck , Ana Petracovici , Chongsheng He , Hannah W Moore , Raymond J Louie , Muhammad Ansar , Sofia Douzgou , Sivagamy Sithambaram , Trudie Cottrell , Regie Lyn P Santos-Cortez , Eloise J Prijoles , Renee Bend , Boris Keren , Cyril Mignot , Marie-Christine Nougues , Katrin Õunap , Tiia Reimand , Sander Pajusalu , Muhammad Zahid , Muhammad Arif Nadeem Saqib , Julien Buratti , Eleanor G Seaby , Kirsty McWalter , Aida Telegrafi , Dustin Baldridge , Marwan Shinawi , Suzanne M Leal , G Bradley Schaefer , Roger E Stevenson , Siddharth Banka , Roberto Bonasio , Jill A Fahrner

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

American journal of medical genetics. Part A
Avec: Mirna Assoum , Ange-Line Bruel , Melissa L Crenshaw , Julian Delanne , Ingrid M Wentzensen , Kirsty McWalter , Karin M Dent , Antonio Vitobello , Paul Kuentz , Julien Thevenon , Yannis Duffourd , Christel Thauvin-Robinet , Laurence Faivre

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mathilde Nizon , Vincent Laugel , Kevin M Flanigan , Matthew Pastore , Megan A Waldrop , Jill A Rosenfeld , Ronit Marom , Rui Xiao , Amanda Gerard , Olivier Pichon , Cédric Le Caignec , Marion Gérard , Klaus Dieterich , Megan Truitt Cho , Kirsty McWalter , Susan Hiatt , Michelle L Thompson , Stéphane Bézieau , Alexandrea Wadley , Klaas J Wierenga , Jean-Marc Egly , Bertrand Isidor

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

Kidney international
Avec: Jung-Hyun Kim , Eun Young Park , David Chitayat , David L Stachura , Jörg Schaper , Kristin Lindstrom , Tamison Jewett , Dagmar Wieczorek , Jos M Draaisma , Margje Sinnema , Christianne Hoeberigs , Maja Hempel , Kristine K Bachman , Andrea H Seeley , Joshua K Stone , Hyun Kyung Kong , Lana Vukadin , Alexander Richard , Deepali N Shinde , Kirsty McWalter , Yue Cindy Si , Ganka Douglas , Ssang-Taek Lim , Lisenka E L M Vissers , Mathieu Lemaire , Eun-Young Erin Ahn

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

American journal of human genetics
Avec: Konrad Platzer , Heinrich Sticht , Stacey L Edwards , William Allen , Kaitlin M Angione , Maria T Bonati , Campbell Brasington , Megan T Cho , Laurie A Demmer , Tzipora Falik-Zaccai , Candace N Gamble , Yorck Hellenbroich , Maria Iascone , Fernando Kok , Sonal Mahida , Hanna Mandel , Thorsten Marquardt , Kirsty McWalter , Bianca Panis , Alexander Pepler , Hailey Pinz , Luiza Ramos , Deepali N Shinde , Constance Smith-Hicks , Alexander P A Stegmann , Petra Stöbe , Constance T R M Stumpel , Carolyn Wilson , Johannes R Lemke , Nataliya Di Donato , Kenneth G Miller , Rami Jamra

Boricua Founder Variant in

Journal of child neurology
Avec: Imane Abdelmoumen , Sandra Jimenez , Ignacio Valencia , Joseph Melvin , Agustin Legido , Mayela M Diaz-Diaz , Christopher Griffith , Lauren J Massingham , Melissa Yelton , Janice Rodríguez-Hernández , Rhonda E Schnur , Laurence E Walsh , Ana G Cristancho , Christina A Bergqvist , Kirsty McWalter , Iain Mathieson , Gillian M Belbin , Eimear E Kenny , Xilma R Ortiz-Gonzalez , Michael C Schneider

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

American journal of human genetics
Avec: Andrea Accogli , Sara Calabretta , Judith St-Onge , Nassima Boudrahem-Addour , Alexandre Dionne-Laporte , Pascal Joset , Silvia Azzarello-Burri , Anita Rauch , Joel Krier , Elizabeth Fieg , Juan C Pallais , Auteur inconnu , Allyn McConkie-Rosell , Marie McDonald , Sharon F Freedman , Jean-Baptiste Rivière , Joël Lafond-Lapalme , Brittany N Simpson , Robert J Hopkin , Aurélien Trimouille , Julien Van-Gils , Amber Begtrup , Kirsty McWalter , Heron Delphine , Boris Keren , David Genevieve , Emanuela Argilli , Elliott H Sherr , Mariasavina Severino , Guy A Rouleau , Patricia T Yam , Frédéric Charron , Myriam Srour

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Genome medicine
Avec: Ilaria Mannucci , Nghi D P Dang , Hannes Huber , Jaclyn B Murry , Jeff Abramson , Thorsten Althoff , Siddharth Banka , Gareth Baynam , David Bearden , Ana Beleza-Meireles , Paul J Benke , Siren Berland , Tatjana Bierhals , Frederic Bilan , Laurence A Bindoff , Geir Julius Braathen , Øyvind L Busk , Jirat Chenbhanich , Jonas Denecke , Luis F Escobar , Caroline Estes , Julie Fleischer , Daniel Groepper , Charlotte A Haaxma , Maja Hempel , Yolanda Holler-Managan , Gunnar Houge , Adam Jackson , Laura Kellogg , Boris Keren , Catherine Kiraly-Borri , Cornelia Kraus , Christian Kubisch , Gwenael Le Guyader , Ulf W Ljungblad , Leslie Manace Brenman , Julian A Martinez-Agosto , Matthew Might , David T Miller , Kelly Q Minks , Billur Moghaddam , Caroline Nava , Stanley F Nelson , John M Parant , Trine Prescott , Farrah Rajabi , Hanitra Randrianaivo , Simone F Reiter , Janneke Schuurs-Hoeijmakers , Perry B Shieh , Anne Slavotinek , Sarah Smithson , Alexander P A Stegmann , Kinga Tomczak , Kristian Tveten , Jun Wang , Jordan H Whitlock , Christiane Zweier , Kirsty McWalter , Jane Juusola , Fabiola Quintero-Rivera , Utz Fischer , Nan Cher Yeo , Hans-Jürgen Kreienkamp , Davor Lessel

Shifts in the genetic counseling workforce highlight a need for laboratory fieldwork experience for genetic counseling trainees.

Journal of genetic counseling
Avec: Tara R Hart , Sohnee Ahmed , Robyn Byrne , Laura Anne Goodell Sulmonte , Leah M Williams , Kirsty McWalter

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

European journal of human genetics : EJHG
Avec: Markus Zweier , Anaïs Begemann , Kirsty McWalter , Megan T Cho , Lucia Abela , Siddharth Banka , Bettina Behring , Andrea Berger , Chester W Brown , Maryline Carneiro , Jiani Chen , Gregory M Cooper , Auteur inconnu , Candice R Finnila , Maria J Guillen Sacoto , Alex Henderson , Ulrike Hüffmeier , Pascal Joset , Bronwyn Kerr , Gaetan Lesca , Gloria S Leszinski , John Henry McDermott , Meira R Meltzer , Kristin G Monaghan , Roya Mostafavi , Katrin Õunap , Barbara Plecko , Zöe Powis , Gabriela Purcarin , Tiia Reimand , Korbinian M Riedhammer , John M Schreiber , Deepa Sirsi , Klaas J Wierenga , Monica H Wojcik , Sorina M Papuc , Katharina Steindl , Heinrich Sticht , Anita Rauch

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

American journal of human genetics
Avec: Björn Fischer-Zirnsak , Lara Segebrecht , Max Schubach , Perrine Charles , Emily Alderman , Kathleen Brown , Maxime Cadieux-Dion , Tracy Cartwright , Yanmin Chen , Carrie Costin , Sarah Fehr , Keely M Fitzgerald , Emily Fleming , Kimberly Foss , Thoa Ha , Gabriele Hildebrand , Denise Horn , Shuxi Liu , Elysa J Marco , Marie McDonald , Kirsty McWalter , Simone Race , Eric T Rush , Yue Si , Carol Saunders , Anne Slavotinek , Sylvia Stockler-Ipsiroglu , Aida Telegrafi , Isabelle Thiffault , Erin Torti , Anne Chun-Hui Tsai , Xin Wang , Muhammad Zafar , Boris Keren , Uwe Kornak , Cornelius F Boerkoel , Ghayda Mirzaa , Nadja Ehmke

De novo substitutions of TRPM3 cause intellectual disability and epilepsy.

European journal of human genetics : EJHG
Avec: David A Dyment , Paulien A Terhal , Cecilie F Rustad , Kristian Tveten , Christopher Griffith , Parul Jayakar , Marwan Shinawi , Sara Ellingwood , Rosemarie Smith , Koen van Gassen , Kirsty McWalter , A Micheil Innes , Matthew A Lines

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

American journal of human genetics
Avec: Benjamin Cogné , Sophie Ehresmann , Eliane Beauregard-Lacroix , Justine Rousseau , Thomas Besnard , Thomas Garcia , Slavé Petrovski , Shiri Avni , Kirsty McWalter , Patrick R Blackburn , Stephan J Sanders , Kévin Uguen , Jacqueline Harris , Julie S Cohen , Moira Blyth , Anna Lehman , Jonathan Berg , Mindy H Li , Usha Kini , Shelagh Joss , Charlotte von der Lippe , Christopher T Gordon , Jennifer B Humberson , Laurie Robak , Daryl A Scott , Vernon R Sutton , Cara M Skraban , Jennifer J Johnston , Annapurna Poduri , Magnus Nordenskjöld , Vandana Shashi , Erica H Gerkes , Ernie M H F Bongers , Christian Gilissen , Yuri A Zarate , Malin Kvarnung , Kevin P Lally , Peggy A Kulch , Brina Daniels , Andres Hernandez-Garcia , Nicholas Stong , Julie McGaughran , Kyle Retterer , Kristian Tveten , Jennifer Sullivan , Madeleine R Geisheker , Asbjorg Stray-Pedersen , Jennifer M Tarpinian , Eric W Klee , Julie C Sapp , Jacob Zyskind , Øystein L Holla , Emma Bedoukian , Francesca Filippini , Anne Guimier , Arnaud Picard , Øyvind L Busk , Jaya Punetha , Rolph Pfundt , Anna Lindstrand , Ann Nordgren , Fayth Kalb , Megha Desai , Ashley Harmon Ebanks , Shalini N Jhangiani , Tammie Dewan , Zeynep H Coban Akdemir , Aida Telegrafi , Elaine H Zackai , Amber Begtrup , Xiaofei Song , Annick Toutain , Ingrid M Wentzensen , Sylvie Odent , Dominique Bonneau , Xénia Latypova , Wallid Deb , Auteur inconnu , Sylvia Redon , Frédéric Bilan , Marine Legendre , Caitlin Troyer , Kerri Whitlock , Oana Caluseriu , Marine I Murphree , Pavel N Pichurin , Katherine Agre , Ralitza Gavrilova , Tuula Rinne , Meredith Park , Catherine Shain , Erin L Heinzen , Rui Xiao , Jeanne Amiel , Stanislas Lyonnet , Bertrand Isidor , Leslie G Biesecker , Dan Lowenstein , Jennifer E Posey , Anne-Sophie Denommé-Pichon , Auteur inconnu , Claude Férec , Xiang-Jiao Yang , Jill A Rosenfeld , Brigitte Gilbert-Dussardier , Séverine Audebert-Bellanger , Richard Redon , Holly A F Stessman , Christoffer Nellaker , Yaping Yang , James R Lupski , David B Goldstein , Evan E Eichler , Francois Bolduc , Stéphane Bézieau , Sébastien Küry , Philippe M Campeau

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ash Zawerton , Cyril Mignot , Ashley Sigafoos , Patrick R Blackburn , Abdul Haseeb , Kirsty McWalter , Shoji Ichikawa , Caroline Nava , Boris Keren , Perrine Charles , Isabelle Marey , Anne-Claude Tabet , Jonathan Levy , Laurence Perrin , Andreas Hartmann , Gaetan Lesca , Caroline Schluth-Bolard , Pauline Monin , Sophie Dupuis-Girod , Maria J Guillen Sacoto , Rhonda E Schnur , Zehua Zhu , Alice Poisson , Salima El Chehadeh , Yves Alembik , Ange-Line Bruel , Daphné Lehalle , Sophie Nambot , Sébastien Moutton , Sylvie Odent , Sylvie Jaillard , Christèle Dubourg , Yvonne Hilhorst-Hofstee , Tina Barbaro-Dieber , Lucia Ortega , Elizabeth J Bhoj , Diane Masser-Frye , Lynne M Bird , Kristin Lindstrom , Keri M Ramsey , Vinodh Narayanan , Emily Fassi , Marcia Willing , Trevor Cole , Claire G Salter , Rhoda Akilapa , Anthony Vandersteen , Natalie Canham , Patrick Rump , Erica H Gerkes , Jolien S Klein Wassink-Ruiter , Emilia Bijlsma , Mariëtte J V Hoffer , Marcelo Vargas , Antonina Wojcik , Florian Cherik , Christine Francannet , Jill A Rosenfeld , Keren Machol , Daryl A Scott , Carlos A Bacino , Xia Wang , Gary D Clark , Marta Bertoli , Simon Zwolinski , Rhys H Thomas , Ela Akay , Richard C Chang , Rebekah Bressi , Rossana Sanchez Russo , Myriam Srour , Laura Russell , Anne-Marie E Goyette , Lucie Dupuis , Roberto Mendoza-Londono , Catherine Karimov , Maries Joseph , Mathilde Nizon , Benjamin Cogné , Alma Kuechler , Amélie Piton , Auteur inconnu , Eric W Klee , Véronique Lefebvre , Karl J Clark , Christel Depienne

Disruptive variants of

Science advances
Avec: Hui Guo , Ying Li , Lu Shen , Tianyun Wang , Xiangbin Jia , Lijuan Liu , Tao Xu , Mengzhu Ou , Kendra Hoekzema , Huidan Wu , Madelyn A Gillentine , Cenying Liu , Hailun Ni , Pengwei Peng , Rongjuan Zhao , Yu Zhang , Chanika Phornphutkul , Alexander P A Stegmann , Carlos E Prada , Robert J Hopkin , Joseph T Shieh , Kirsty McWalter , Kristin G Monaghan , Peter M van Hasselt , Koen van Gassen , Ting Bai , Min Long , Lin Han , Yingting Quan , Meilin Chen , Yaowen Zhang , Kuokuo Li , Qiumeng Zhang , Jieqiong Tan , Tengfei Zhu , Yaning Liu , Nan Pang , Jing Peng , Daryl A Scott , Seema R Lalani , Mahshid Azamian , Grazia M S Mancini , Darius J Adams , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jonathan Pevsner , Ikeoluwa A Osei-Owusu , Corrado Romano , Giuseppe Calabrese , Ornella Galesi , Jozef Gecz , Eric Haan , Judith Ranells , Melissa Racobaldo , Magnus Nordenskjold , Suneeta Madan-Khetarpal , Jessica Sebastian , Susie Ball , Xiaobing Zou , Jingping Zhao , Zhengmao Hu , Fan Xia , Pengfei Liu , Jill A Rosenfeld , Bert B A de Vries , Raphael A Bernier , Zhi-Qing David Xu , Honghui Li , Wei Xie , Robert B Hufnagel , Evan E Eichler , Kun Xia

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

American journal of human genetics
Avec: Anna Fliedner , Philipp Kirchner , Antje Wiesener , Irma van de Beek , Quinten Waisfisz , Mieke van Haelst , Daryl A Scott , Seema R Lalani , Jill A Rosenfeld , Mahshid S Azamian , Fan Xia , Marina Dutra-Clarke , Julian A Martinez-Agosto , Hane Lee , Auteur inconnu , Grace J Noh , Natalie Lippa , Anna Alkelai , Vimla Aggarwal , Katherine E Agre , Ralitza Gavrilova , Ghayda M Mirzaa , Rachel Straussberg , Rony Cohen , Brooke Horist , Vidya Krishnamurthy , Kirsty McWalter , Jane Juusola , Laura Davis-Keppen , Lisa Ohden , Marjon van Slegtenhorst , Stella A de Man , Arif B Ekici , Anne Gregor , Ingrid van de Laar , Christiane Zweier

Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.

Clinical genetics
Avec: H K Robinson , E Zaklyazminskaya , I Povolotskaya , Y Surikova , L Mallin , C Armstrong , D Mabin , P J Benke , M R Chrisant , M McDonald , C C Marboe , K E Agre , D R Deyle , K McWalter , G Douglas , M S Balashova , V Kaimonov , N Shirokova , E Pomerantseva , C L Turner , S Ellard

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Theresa Brunet , Kirsty McWalter , Katharina Mayerhanser , Grace M Anbouba , Amy Armstrong-Javors , Ingrid Bader , Evan Baugh , Amber Begtrup , Caleb P Bupp , Bert L Callewaert , Anna Cereda , Margot A Cousin , Juan C Del Rey Jimenez , Laurie Demmer , Nikita R Dsouza , Nicole Fleischer , Ralitza H Gavrilova , Sumedha Ghate , Elisabeth Graf , Andrew Green , Sarah R Green , Maria Iascone , Ameni Kdissa , Dirk Klee , Eric W Klee , Emily Lancaster , Kristin Lindstrom , Johannes A Mayr , Meriel McEntagart , Naomi J L Meeks , Dana Mittag , Harrison Moore , Anne K Olsen , Damara Ortiz , Gretchen Parsons , Loren D M Pena , Richard E Person , Sumit Punj , Gonzalo Alonso Ramos-Rivera , Maria J Guillen Sacoto , G Bradley Schaefer , Rhonda E Schnur , Tiana M Scott , Daryl A Scott , Carolyn R Serbinski , Vandana Shashi , Victoria M Siu , Barbro Fossøy Stadheim , Jennifer A Sullivan , Jana Švantnerová , Lea Velsher , David S Wargowski , Ingrid M Wentzensen , Dagmar Wieczorek , Juliane Winkelmann , Patrick Yap , Michael Zech , Michael T Zimmermann , Thomas Meitinger , Felix Distelmaier , Matias Wagner

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anaïs Begemann , Heinrich Sticht , Amber Begtrup , Antonio Vitobello , Laurence Faivre , Siddharth Banka , Bader Alhaddad , Reza Asadollahi , Jessica Becker , Tatjana Bierhals , Kathleen E Brown , Ange-Line Bruel , Theresa Brunet , Maryline Carneiro , Kirsten Cremer , Robert Day , Anne-Sophie Denommé-Pichon , Dave A Dyment , Hartmut Engels , Rachel Fisher , Elaine S Goh , M J Hajianpour , Lucia Ribeiro Machado Haertel , Nadine Hauer , Maja Hempel , Theresia Herget , Jessika Johannsen , Cornelia Kraus , Gwenaël Le Guyader , Gaetan Lesca , Frédéric Tran Mau-Them , John Henry McDermott , Kirsty McWalter , Pierre Meyer , Katrin Õunap , Bernt Popp , Tiia Reimand , Korbinian M Riedhammer , Martina Russo , Lynette G Sadleir , Margarita Saenz , Manuel Schiff , Elisabeth Schuler , Steffen Syrbe , Amelie Theresa Van der Ven , Alain Verloes , Marjolaine Willems , Christiane Zweier , Katharina Steindl , Markus Zweier , Anita Rauch

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

American journal of human genetics
Avec: Joery den Hoed , Elke de Boer , Norine Voisin , Alexander J M Dingemans , Nicolas Guex , Laurens Wiel , Christoffer Nellaker , Shivarajan M Amudhavalli , Siddharth Banka , Frederique S Bena , Bruria Ben-Zeev , Vincent R Bonagura , Ange-Line Bruel , Theresa Brunet , Han G Brunner , Hui B Chew , Jacqueline Chrast , Loreta Cimbalistienė , Hilary Coon , Auteur inconnu , Emmanuèlle C Délot , Florence Démurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Dian Donnai , David A Dyment , Orly Elpeleg , Laurence Faivre , Christian Gilissen , Leslie Granger , Benjamin Haber , Yasuo Hachiya , Yasmin Hamzavi Abedi , Jennifer Hanebeck , Jayne Y Hehir-Kwa , Brooke Horist , Toshiyuki Itai , Adam Jackson , Rosalyn Jewell , Kelly L Jones , Shelagh Joss , Hirofumi Kashii , Mitsuhiro Kato , Anja A Kattentidt-Mouravieva , Fernando Kok , Urania Kotzaeridou , Vidya Krishnamurthy , Vaidutis Kučinskas , Alma Kuechler , Alinoë Lavillaureix , Pengfei Liu , Linda Manwaring , Naomichi Matsumoto , Benoît Mazel , Kirsty McWalter , Vardiella Meiner , Mohamad A Mikati , Satoko Miyatake , Takeshi Mizuguchi , Lip H Moey , Shehla Mohammed , Hagar Mor-Shaked , Hayley Mountford , Ruth Newbury-Ecob , Sylvie Odent , Laura Orec , Matthew Osmond , Timothy B Palculict , Michael Parker , Andrea K Petersen , Rolph Pfundt , Eglė Preikšaitienė , Kelly Radtke , Emmanuelle Ranza , Jill A Rosenfeld , Teresa Santiago-Sim , Caitlin Schwager , Margje Sinnema , Lot Snijders Blok , Rebecca C Spillmann , Alexander P A Stegmann , Isabelle Thiffault , Linh Tran , Adi Vaknin-Dembinsky , Juliana H Vedovato-Dos-Santos , Samantha A Schrier Vergano , Eric Vilain , Antonio Vitobello , Matias Wagner , Androu Waheeb , Marcia Willing , Britton Zuccarelli , Usha Kini , Dianne F Newbury , Tjitske Kleefstra , Alexandre Reymond , Simon E Fisher , Lisenka E L M Vissers

Discovery of a neuromuscular syndrome caused by biallelic variants in

HGG advances
Avec: Divya Nair , Dong Li , Hannah Erdogan , Andrew Yoon , Margaret H Harr , Gaber Bergant , Borut Peterlin , Maruša Škrjanec Pušenjak , Parul Jayakar , Rolph Pfundt , Sandra Jansen , Kirsty McWalter , Alpa Sidhu , Sheila Saliganan , Emanuele Agolini , Arthur Jacob , Jennifer Pasquier , Rafii Arash , Kimia Kahrizi , Hossein Najmabadi , Hans-Hilger Ropers , Elizabeth J Bhoj

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

American journal of human genetics
Avec: Sébastien Küry , Frédéric Ebstein , Alice Mollé , Thomas Besnard , Ming-Kang Lee , Virginie Vignard , Tiphaine Hery , Mathilde Nizon , Grazia M S Mancini , Jacques C Giltay , Benjamin Cogné , Kirsty McWalter , Wallid Deb , Hagar Mor-Shaked , Hong Li , Rhonda E Schnur , Ingrid M Wentzensen , Anne-Sophie Denommé-Pichon , Cynthia Fourgeux , Frans W Verheijen , Eva Faurie , Rachel Schot , Cathy A Stevens , Daphne J Smits , Eileen Barr , Ruth Sheffer , Jonathan A Bernstein , Chandler L Stimach , Eliana Kovitch , Vandana Shashi , Kelly Schoch , Whitney Smith , Richard H van Jaarsveld , Anna C E Hurst , Kirstin Smith , Evan H Baugh , Suzanne G Bohm , Emílie Vyhnálková , Lukáš Ryba , Capucine Delnatte , Juanita Neira , Dominique Bonneau , Annick Toutain , Jill A Rosenfeld , Auteur inconnu , Séverine Audebert-Bellanger , Brigitte Gilbert-Dussardier , Sylvie Odent , Frédéric Laumonnier , Seth I Berger , Ann C M Smith , Franck Bourdeaut , Marc-Henri Stern , Richard Redon , Elke Krüger , Raphaël Margueron , Stéphane Bézieau , Jeremie Poschmann , Bertrand Isidor

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

Nature communications
Avec: Yu-Ri Lee , Kamal Khan , Kim Armfield-Uhas , Sujata Srikanth , Nicola A Thompson , Mercedes Pardo , Lu Yu , Joy W Norris , Yunhui Peng , Karen W Gripp , Kirk A Aleck , Chumei Li , Ed Spence , Tae-Ik Choi , Soo Jeong Kwon , Hee-Moon Park , Daseuli Yu , Won Do Heo , Marie R Mooney , Shahid M Baig , Ingrid M Wentzensen , Aida Telegrafi , Kirsty McWalter , Trevor Moreland , Chelsea Roadhouse , Keri Ramsey , Michael J Lyons , Cindy Skinner , Emil Alexov , Nicholas Katsanis , Roger E Stevenson , Jyoti S Choudhary , David J Adams , Cheol-Hee Kim , Erica E Davis , Charles E Schwartz

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.

Science advances
Avec: Kezhi Yan , Justine Rousseau , Keren Machol , Laura A Cross , Katherine E Agre , Cynthia Forster Gibson , Anne Goverde , Kendra L Engleman , Hannah Verdin , Elfride De Baere , Lorraine Potocki , Dihong Zhou , Maxime Cadieux-Dion , Gary A Bellus , Monisa D Wagner , Rebecca J Hale , Natacha Esber , Alan F Riley , Benjamin D Solomon , Megan T Cho , Kirsty McWalter , Roy Eyal , Meagan K Hainlen , Bryce A Mendelsohn , Hillary M Porter , Brendan C Lanpher , Andrea M Lewis , Juliann Savatt , Isabelle Thiffault , Bert Callewaert , Philippe M Campeau , Xiang-Jiao Yang

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mathilde Nizon , Vincent Laugel , Kevin M Flanigan , Matthew Pastore , Megan A Waldrop , Jill A Rosenfeld , Ronit Marom , Rui Xiao , Amanda Gerard , Olivier Pichon , Cédric Le Caignec , Marion Gérard , Klaus Dieterich , Megan Truitt Cho , Kirsty McWalter , Susan Hiatt , Michelle L Thompson , Stéphane Bézieau , Alexandrea Wadley , Klaas J Wierenga , Jean-Marc Egly , Bertrand Isidor

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.

Clinical genetics
Avec: Alban Ziegler , Patricia Bader , Kirsty McWalter , Ganka Douglas , Clara Houdayer , Céline Bris , Stephanie Rouleau , Régis Coutant , Estelle Colin , Dominique Bonneau

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

American journal of medical genetics. Part A
Avec: Jennifer N Dines , Yajuan J Liu , Whitney Neufeld-Kaiser , Taylor Sawyer , Gisele E Ishak , Hannah M Tully , Melissa Racobaldo , Amarilis Sanchez-Valle , Christine M Disteche , Jane Juusola , Erin Torti , Kirsty McWalter , Dan Doherty , Katrina M Dipple

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

American journal of human genetics
Avec: Raphael Carapito , Ekaterina L Ivanova , Aurore Morlon , Linyan Meng , Anne Molitor , Eva Erdmann , Bruno Kieffer , Angélique Pichot , Lydie Naegely , Aline Kolmer , Nicodème Paul , Antoine Hanauer , Frédéric Tran Mau-Them , Nolwenn Jean-Marçais , Susan M Hiatt , Gregory M Cooper , Tatiana Tvrdik , Alison M Muir , Clémantine Dimartino , Maya Chopra , Jeanne Amiel , Christopher T Gordon , Fabien Dutreux , Aurore Garde , Christel Thauvin-Robinet , Xia Wang , Magalie S Leduc , Meredith Phillips , Heather P Crawford , Mary K Kukolich , David Hunt , Victoria Harrison , Mira Kharbanda , Auteur inconnu , Auteur inconnu , Robert Smigiel , Nina Gold , Christina Y Hung , David H Viskochil , Sarah L Dugan , Pinar Bayrak-Toydemir , Géraldine Joly-Helas , Anne-Marie Guerrot , Caroline Schluth-Bolard , Marlène Rio , Ingrid M Wentzensen , Kirsty McWalter , Rhonda E Schnur , Andrea M Lewis , Seema R Lalani , Noël Mensah-Bonsu , Jocelyn Céraline , Zijie Sun , Rafal Ploski , Carlos A Bacino , Heather C Mefford , Laurence Faivre , Olaf Bodamer , Jamel Chelly , Bertrand Isidor , Seiamak Bahram

Journal of medical genetics
Avec: Audrey Schalk , Margot A Cousin , Nikita R Dsouza , Thomas D Challman , Karen E Wain , Zoe Powis , Kelly Minks , Aurélien Trimouille , Eulalie Lasseaux , Didier Lacombe , Chloé Angelini , Vincent Michaud , Julien Van-Gils , Nino Spataro , Anna Ruiz , Elizabeth Gabau , Elliot Stolerman , Camerun Washington , Ray Louie , Brendan C Lanpher , Jennifer L Kemppainen , Micheil Innes , Frank Kooy , Marije Meuwissen , Alice Goldenberg , Francois Lecoquierre , Gabriella Vera , Karin E M Diderich , Beth Sheidley , Christelle Moufawad El Achkar , Meredith Park , Fadi F Hamdan , Jacques L Michaud , Ann J Lewis , Christiane Zweier , André Reis , Matias Wagner , Heike Weigand , Hubert Journel , Boris Keren , Sandrine Passemard , Cyril Mignot , Koen van Gassen , Eva H Brilstra , Gina Itzikowitz , Emily O'Heir , Jake Allen , Kirsten A Donald , Bruce Richard Korf , Tammi Skelton , Michelle Thompson , Nathaniel H Robin , Natasha L Rudy , William B Dobyns , Kimberly Foss , Yuri Alexander Zarate , Katherine A Bosanko , Yves Alembik , Benjamin Durand , Frederic Tran Mau-Them , Emmanuelle Ranza , Xavier Blanc , Stylianos E Antonarakis , Kirsty McWalter , Erin Torti , Francisca Millan , Amy Dameron , Mari Tokita , Michael T Zimmermann , Eric W Klee , Amelie Piton , Benedicte Gerard

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

American journal of human genetics
Avec: Xenia Latypova , Marie Vincent , Alice Mollé , Oluwadamilare A Adebambo , Cynthia Fourgeux , Tahir N Khan , Alfonso Caro , Monica Rosello , Carmen Orellana , Dmitriy Niyazov , Damien Lederer , Marie Deprez , Yline Capri , Peter Kannu , Anne Claude Tabet , Jonathan Levy , Emmelien Aten , Nicolette den Hollander , Miranda Splitt , Jagdeep Walia , Ladonna L Immken , Pawel Stankiewicz , Kirsty McWalter , Sharon Suchy , Raymond J Louie , Shannon Bell , Roger E Stevenson , Justine Rousseau , Catherine Willem , Christelle Retiere , Xiang-Jiao Yang , Philippe M Campeau , Francisco Martinez , Jill A Rosenfeld , Cédric Le Caignec , Sébastien Küry , Sandra Mercier , Kamran Moradkhani , Solène Conrad , Thomas Besnard , Benjamin Cogné , Nicholas Katsanis , Stéphane Bézieau , Jeremie Poschmann , Erica E Davis , Bertrand Isidor

Histone H3.3 beyond cancer: Germline mutations in

Science advances
Avec: Laura Bryant , Dong Li , Samuel G Cox , Dylan Marchione , Evan F Joiner , Khadija Wilson , Kevin Janssen , Pearl Lee , Michael E March , Divya Nair , Elliott Sherr , Brieana Fregeau , Klaas J Wierenga , Alexandrea Wadley , Grazia M S Mancini , Nina Powell-Hamilton , Jiddeke van de Kamp , Theresa Grebe , John Dean , Alison Ross , Heather P Crawford , Zoe Powis , Megan T Cho , Marcia C Willing , Linda Manwaring , Rachel Schot , Caroline Nava , Alexandra Afenjar , Davor Lessel , Matias Wagner , Thomas Klopstock , Juliane Winkelmann , Claudia B Catarino , Kyle Retterer , Jane L Schuette , Jeffrey W Innis , Amy Pizzino , Sabine Lüttgen , Jonas Denecke , Tim M Strom , Kristin G Monaghan , Auteur inconnu , Zuo-Fei Yuan , Holly Dubbs , Renee Bend , Jennifer A Lee , Michael J Lyons , Julia Hoefele , Roman Günthner , Heiko Reutter , Boris Keren , Kelly Radtke , Omar Sherbini , Cameron Mrokse , Katherine L Helbig , Sylvie Odent , Benjamin Cogne , Sandra Mercier , Stephane Bezieau , Thomas Besnard , Sebastien Kury , Richard Redon , Karit Reinson , Monica H Wojcik , Katrin Õunap , Pilvi Ilves , A Micheil Innes , Kristin D Kernohan , Auteur inconnu , Gregory Costain , M Stephen Meyn , David Chitayat , Elaine Zackai , Anna Lehman , Hilary Kitson , Auteur inconnu , Martin G Martin , Julian A Martinez-Agosto , Auteur inconnu , Stan F Nelson , Christina G S Palmer , Jeanette C Papp , Neil H Parker , Janet S Sinsheimer , Eric Vilain , Jijun Wan , Amanda J Yoon , Allison Zheng , Elise Brimble , Giovanni Battista Ferrero , Francesca Clementina Radio , Diana Carli , Sabina Barresi , Alfredo Brusco , Marco Tartaglia , Jennifer Muncy Thomas , Luis Umana , Marjan M Weiss , Garrett Gotway , K E Stuurman , Michelle L Thompson , Kirsty McWalter , Constance T R M Stumpel , Servi J C Stevens , Alexander P A Stegmann , Kristian Tveten , Arve Vøllo , Trine Prescott , Christina Fagerberg , Lone Walentin Laulund , Martin J Larsen , Melissa Byler , Robert Roger Lebel , Anna C Hurst , Joy Dean , Samantha A Schrier Vergano , Jennifer Norman , Saadet Mercimek-Andrews , Juanita Neira , Margot I Van Allen , Nicola Longo , Elizabeth Sellars , Raymond J Louie , Sara S Cathey , Elly Brokamp , Delphine Heron , Molly Snyder , Adeline Vanderver , Celeste Simon , Xavier de la Cruz , Natália Padilla , J Gage Crump , Wendy Chung , Benjamin Garcia , Hakon H Hakonarson , Elizabeth J Bhoj

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sacha Ferdinandusse , Kirsty McWalter , Heleen Te Brinke , Lodewijk IJlst , Petra M Mooijer , Jos P N Ruiter , Alida E M van Lint , Mia Pras-Raves , Eric Wever , Francisca Millan , Maria J Guillen Sacoto , Amber Begtrup , Mark Tarnopolsky , Lauren Brady , Roger L Ladda , Susan L Sell , Catherine B Nowak , Jessica Douglas , Cuixia Tian , Elizabeth Ulm , Seth Perlman , Arlene V Drack , Karen Chong , Nicole Martin , Jennifer Brault , Elly Brokamp , Camilo Toro , William A Gahl , Ellen F Macnamara , Lynne Wolfe , Auteur inconnu , Quinten Waisfisz , Petra J G Zwijnenburg , Alban Ziegler , Magalie Barth , Rosemarie Smith , Sara Ellingwood , Deborah Gaebler-Spira , Somayeh Bakhtiari , Michael C Kruer , Antoine H C van Kampen , Ronald J A Wanders , Hans R Waterham , David Cassiman , Frédéric M Vaz

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

Clinical genetics
Avec: Nina B Gold , Dong Li , Anna Chassevent , Frank J Kaiser , Ilaria Parenti , Tim M Strom , Feliciano J Ramos , Beatriz Puisac , Juan Pié , Kirsty McWalter , Maria J Guillen Sacoto , Hong Cui , Reem Saadeh-Haddad , Constance Smith-Hicks , Lance Rodan , Edward Blair , Elizabeth Bhoj

Discovery of over 200 new and expanded genetic conditions using GeneMatcher.

Human mutation
Avec: K McWalter , E Torti , M Morrow , J Juusola , K Retterer

Clinical and laboratory genetic counseling assistants: Comparing background experiences, responsibilities, satisfaction, and career goals.

Journal of genetic counseling
Avec: Cassidy Gagne , Katelyn Geiser , Noelle R Danylchuk , Jing Jin , Kirsty McWalter

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lauren Jeffries , Emily K Mis , Kirsty McWalter , Sandra Donkervoort , Nina N Brodsky , Jean-Marie Carpier , Weizhen Ji , Cristian Ionita , Bhaskar Roy , Jon S Morrow , Armine Darbinyan , Krishna Iyer , Ritu B Aul , Siddharth Banka , Katherine R Chao , Laura Cobbold , Stacey Cohen , Helena M Custodio , Margaret Drummond-Borg , Frances Elmslie , Erika Finanger , Bryan E Hainline , Ingo Helbig , Stacy Hewson , Ying Hu , Adam Jackson , Dragana Josifova , Monica Konstantino , Meganne E Leach , Bryan Mak , David McCormick , Elisabeth McGee , Stanley Nelson , Joanne Nguyen , Kimberly Nugent , Lucy Ortega , Howard P Goodkin , Elizabeth Roeder , Sani Roy , Katie Sapp , Dimah Saade , Sanjay M Sisodiya , Karen Stals , Shelley Towner , William Wilson , Auteur inconnu , Auteur inconnu , Auteur inconnu , Mustafa K Khokha , Carsten G Bönnemann , Carrie L Lucas , Saquib A Lakhani

Germline mutations in a G protein identify signaling cross-talk in T cells.

Science (New York, N.Y.)
Avec: Hyoungjun Ham , Huie Jing , Ian T Lamborn , Megan M Kober , Alexey Koval , Yamina A Berchiche , D Eric Anderson , Kirk M Druey , Judith N Mandl , Bertrand Isidor , Carlos R Ferreira , Alexandra F Freeman , Sundar Ganesan , Meliha Karsak , Peter J Mustillo , Juliana Teo , Zarazuela Zolkipli-Cunningham , Nicolas Chatron , François Lecoquierre , Andrew J Oler , Jana Pachlopnik Schmid , Douglas B Kuhns , Xuehua Xu , Fabian Hauck , Waleed Al-Herz , Matias Wagner , Paulien A Terhal , Mari Muurinen , Vincent Barlogis , Phillip Cruz , Jeffrey Danielson , Helen Stewart , Petra Loid , Sebastian Rading , Boris Keren , Rolph Pfundt , Kol A Zarember , Katharina Vill , Lorraine Potocki , Kenneth N Olivier , Gaetan Lesca , Laurence Faivre , Melanie Wong , Anne Puel , Janet Chou , Maud Tusseau , Niki M Moutsopoulos , Helen F Matthews , Cas Simons , Ryan J Taft , Ariane Soldatos , Etienne Masle-Farquhar , Stefania Pittaluga , Robert Brink , Danielle L Fink , Heidi H Kong , Juraj Kabat , Woo Sung Kim , Tatjana Bierhals , Kazuyuki Meguro , Amy P Hsu , Jingwen Gu , Jennifer Stoddard , Benito Banos-Pinero , Maria Slack , Giampaolo Trivellin , Benoît Mazel , Maarja Soomann , Samuel Li , Val J Watts , Constantine A Stratakis , Maria F Rodriguez-Quevedo , Ange-Line Bruel , Marita Lipsanen-Nyman , Paul Saultier , Rashmi Jain , Daphne Lehalle , Daniel Torres , Kathleen E Sullivan , Sébastien Barbarot , Axel Neu , Yannis Duffourd , Morgan Similuk , Kirsty McWalter , Pierre Blanc , Stéphane Bézieau , Tian Jin , Raif S Geha , Jean-Laurent Casanova , Outi M Makitie , Christian Kubisch , Patrick Edery , John Christodoulou , Ronald N Germain , Christopher C Goodnow , Thomas P Sakmar , Daniel D Billadeau , Sébastien Küry , Vladimir L Katanaev , Yu Zhang , Michael J Lenardo , Helen C Su

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

American journal of human genetics
Avec: Susan M Hiatt , Michelle L Thompson , Jeremy W Prokop , James M J Lawlor , David E Gray , E Martina Bebin , Tuula Rinne , Marlies Kempers , Rolph Pfundt , Bregje W van Bon , Cyril Mignot , Caroline Nava , Christel Depienne , Louisa Kalsner , Anita Rauch , Pascal Joset , Ruxandra Bachmann-Gagescu , Ingrid M Wentzensen , Kirsty McWalter , Gregory M Cooper

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

Bone
Avec: Alice Costantini , Helena Valta , Nissan Vida Baratang , Patrick Yap , Débora R Bertola , Guilherme L Yamamoto , Chong A Kim , Jiani Chen , Klaas J Wierenga , Elizabeth A Fanning , Luis Escobar , Kirsty McWalter , Heather McLaughlin , Rebecca Willaert , Amber Begtrup , Jessica J Alm , Dieter P Reinhardt , Outi Mäkitie , Philippe M Campeau

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jennifer N Dines , Katie Golden-Grant , Amy LaCroix , Alison M Muir , Dianne Laboy Cintrón , Kirsty McWalter , Megan T Cho , Angela Sun , J Lawrence Merritt , Jenny Thies , Dmitriy Niyazov , Barbara Burton , Katherine Kim , Leah Fleming , Rachel Westman , Peter Karachunski , Joline Dalton , Alice Basinger , Can Ficicioglu , Ingo Helbig , Manuela Pendziwiat , Hiltrud Muhle , Katherine L Helbig , Almuth Caliebe , René Santer , Kolja Becker , Sharon Suchy , Ganka Douglas , Francisca Millan , Amber Begtrup , Kristin G Monaghan , Heather C Mefford

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Jennifer N Dines , Katie Golden-Grant , Amy LaCroix , Alison M Muir , Dianne Laboy Cintrón , Kirsty McWalter , Megan T Cho , Angela Sun , J Lawrence Merritt , Jenny Thies , Dmitriy Niyazov , Barbara Burton , Katherine Kim , Leah Fleming , Rachel Westman , Peter Karachunski , Joline Dalton , Alice Basinger , Can Ficicioglu , Ingo Helbig , Manuela Pendziwiat , Hiltrud Muhle , Katherine L Helbig , Almuth Caliebe , René Santer , Kolja Becker , Sharon Suchy , Ganka Douglas , Francisca Millan , Amber Begtrup , Kristin G Monaghan , Heather C Mefford

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.

Neuron
Avec: Andrew Kodani , Connor Kenny , Abbe Lai , Dilenny M Gonzalez , Edward Stronge , Gabrielle M Sejourne , Laura Isacco , Jennifer N Partlow , Anne O'Donnell , Kirsty McWalter , Alicia B Byrne , A James Barkovich , Edward Yang , R Sean Hill , Pawel Gawlinski , Wojciech Wiszniewski , Julie S Cohen , S Ali Fatemi , Kristin W Baranano , Mustafa Sahin , David G Vossler , Christopher J Yuskaitis , Christopher A Walsh

HGG advances
Avec: Michael M Khayat , Jianhong Hu , Yunyun Jiang , He Li , Varuna Chander , Moez Dawood , Adam W Hansen , Shoudong Li , Jennifer Friedman , Laura Cross , Emilia K Bijlsma , Claudia A L Ruivenkamp , Francis H Sansbury , Jeffrey W Innis , Jessica Omark O'Shea , Qingchang Meng , Jill A Rosenfeld , Kirsty McWalter , Michael F Wangler , James R Lupski , Jennifer E Posey , David Murdock , Richard A Gibbs

Pathogenic variants in

Journal of medical genetics
Avec: Jorge Luis Granadillo , Alexander P A Stegmann , Hui Guo , Kun Xia , Brad Angle , Kelly Bontempo , Judith D Ranells , Patricia Newkirk , Carrie Costin , Joleen Viront , Constanze T Stumpel , Margje Sinnema , Bianca Panis , Rolph Pfundt , Ingrid P C Krapels , Merel Klaassens , Joost Nicolai , Jinliang Li , Yuwu Jiang , Elysa Marco , Ana Canton , Ana Claudia Latronico , Luciana Montenegro , Bruno Leheup , Celine Bonnet , Shivarajan M Amudhavalli , Caitlin E Lawson , Kirsty McWalter , Aida Telegrafi , Richard Pearson , Malin Kvarnung , Xia Wang , Weimin Bi , Jill Anne Rosenfeld , Marwan Shinawi

De novo variants in MPP5 cause global developmental delay and behavioral changes.

Human molecular genetics
Avec: Noelle Sterling , Anna R Duncan , Raehee Park , David A Koolen , Jiahai Shi , Seo-Hee Cho , Paul J Benke , Patricia E Grant , Casie A Genetti , Grace E VanNoy , Jane Juusola , Kirsty McWalter , Jillian S Parboosingh , Ryan E Lamont , Francois P Bernier , Christopher Smith , David J Harris , Alexander P A Stegmann , A Micheil Innes , Seonhee Kim , Pankaj B Agrawal

Expanding the KIF4A-associated phenotype.

American journal of medical genetics. Part A
Avec: Silvia Kalantari , Colleen Carlston , Norah Alsaleh , Ghada M H Abdel-Salam , Fowzan Alkuraya , Mitsuhiro Kato , Naomichi Matsumoto , Satoko Miyatake , Tatsuya Yamamoto , Lucas Fares-Taie , Jean-Michel Rozet , Nicolas Chassaing , Catherine Vincent-Delorme , Anjeung Kang-Bellin , Kirsty McWalter , Caleb Bupp , Emily Palen , Monisa D Wagner , Marcello Niceta , Claudia Cesario , Roberta Milone , Julie Kaplan , Erin Wadman , William B Dobyns , Isabel Filges

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.

Annals of neurology
Avec: Egidio Spinelli , Kyle R Christensen , Emily Bryant , Amy Schneider , Jennifer Rakotomamonjy , Alison M Muir , Jessica Giannelli , Rebecca O Littlejohn , Elizabeth R Roeder , Berkley Schmidt , William G Wilson , Elysa J Marco , Kazuhiro Iwama , Satoko Kumada , Tiziana Pisano , Carmen Barba , Annalisa Vetro , Eva H Brilstra , Richard H van Jaarsveld , Naomichi Matsumoto , Hadassa Goldberg-Stern , Patrick W Carney , P Ian Andrews , Christelle M El Achkar , Sam Berkovic , Lance H Rodan , Auteur inconnu , Kirsty McWalter , Renzo Guerrini , Ingrid E Scheffer , Heather C Mefford , Simone Mandelstam , Linda Laux , John J Millichap , Alicia Guemez-Gamboa , Angus C Nairn , Gemma L Carvill

Variants in

HGG advances
Avec: Andrew K Sobering , Laura M Bryant , Dong Li , Julie McGaughran , Isabelle Maystadt , Stephanie Moortgat , John M Graham , Arie van Haeringen , Claudia Ruivenkamp , Roos Cuperus , Julie Vogt , Jenny Morton , Charlotte Brasch-Andersen , Maria Steenhof , Lars Kjærsgaard Hansen , Élodie Adler , Stanislas Lyonnet , Veronique Pingault , Marlin Sandrine , Alban Ziegler , Tyhiesia Donald , Beverly Nelson , Brandon Holt , Oleksandra Petryna , Helen Firth , Kirsty McWalter , Jacob Zyskind , Aida Telegrafi , Jane Juusola , Richard Person , Michael J Bamshad , Dawn Earl , Auteur inconnu , Anne Chun-Hui Tsai , Katherine R Yearwood , Elysa Marco , Catherine Nowak , Jessica Douglas , Hakon Hakonarson , Elizabeth J Bhoj

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sébastien Küry , Jinwei Zhang , Thomas Besnard , Alfonso Caro-Llopis , Xue Zeng , Stephanie M Robert , Sunday S Josiah , Emre Kiziltug , Anne-Sophie Denommé-Pichon , Benjamin Cogné , Adam J Kundishora , Le T Hao , Hong Li , Roger E Stevenson , Raymond J Louie , Wallid Deb , Erin Torti , Virginie Vignard , Kirsty McWalter , F Lucy Raymond , Farrah Rajabi , Emmanuelle Ranza , Detelina Grozeva , Stephanie A Coury , Xavier Blanc , Elise Brischoux-Boucher , Boris Keren , Katrin Õunap , Karit Reinson , Pilvi Ilves , Ingrid M Wentzensen , Eileen E Barr , Solveig Heide Guihard , Perrine Charles , Eleanor G Seaby , Kristin G Monaghan , Marlène Rio , Yolande van Bever , Marjon van Slegtenhorst , Wendy K Chung , Ashley Wilson , Delphine Quinquis , Flora Bréhéret , Kyle Retterer , Pierre Lindenbaum , Emmanuel Scalais , Lindsay Rhodes , Katrien Stouffs , Elaine M Pereira , Sara M Berger , Sarah S Milla , Ankita B Jaykumar , Melanie H Cobb , Shreyas Panchagnula , Phan Q Duy , Marie Vincent , Sandra Mercier , Brigitte Gilbert-Dussardier , Xavier Le Guillou , Séverine Audebert-Bellanger , Sylvie Odent , Sébastien Schmitt , Pierre Boisseau , Dominique Bonneau , Annick Toutain , Estelle Colin , Laurent Pasquier , Richard Redon , Arjan Bouman , Jill A Rosenfeld , Michael J Friez , Helena Pérez-Peña , Syed Raza Akhtar Rizvi , Shozeb Haider , Stylianos E Antonarakis , Charles E Schwartz , Francisco Martínez , Stéphane Bézieau , Kristopher T Kahle , Bertrand Isidor

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

Brain : a journal of neurology
Avec: Lama AlAbdi , Muriel Desbois , Domniţa-Valeria Rusnac , Raashda A Sulaiman , Jill A Rosenfeld , Seema Lalani , David R Murdock , Lindsay C Burrage , Auteur inconnu , Ping Yee Billie Au , Shelley Towner , William G Wilson , Lawrence Wong , Theresa Brunet , Gertrud Strobl-Wildemann , Jennifer E Burton , George Hoganson , Kirsty McWalter , Amber Begtrup , Yuri A Zarate , Elyse L Christensen , Karla J Opperman , Andrew C Giles , Rana Helaby , Artur Kania , Ning Zheng , Brock Grill , Fowzan S Alkuraya

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.

Human molecular genetics
Avec: Elisabetta Flex , Shahad Albadri , Francesca Clementina Radio , Serena Cecchetti , Antonella Lauri , Manuela Priolo , Marta Kissopoulos , Giovanna Carpentieri , Giulia Fasano , Martina Venditti , Valentina Magliocca , Emanuele Bellacchio , Carrie L Welch , Paolo C Colombo , Stephanie M Kochav , Richard Chang , Rebekah Barrick , Marina Trivisano , Alessia Micalizzi , Rossella Borghi , Elena Messina , Cecilia Mancini , Simone Pizzi , Flavia De Santis , Marion Rosello , Nicola Specchio , Claudia Compagnucci , Kirsty McWalter , Wendy K Chung , Filippo Del Bene , Marco Tartaglia

Erratum: Variants in

HGG advances
Avec: Andrew K Sobering , Laura M Bryant , Dong Li , Julie McGaughran , Isabelle Maystadt , Stephanie Moortgat , John M Graham , Arie van Haeringen , Claudia Ruivenkamp , Roos Cuperus , Julie Vogt , Jenny Morton , Charlotte Brasch-Andersen , Maria Steenhof , Lars Kjærsgaard Hansen , Élodie Adler , Stanislas Lyonnet , Veronique Pingault , Marlin Sandrine , Alban Ziegler , Tyhiesia Donald , Beverly Nelson , Brandon Holt , Oleksandra Petryna , Helen Firth , Kirsty McWalter , Jacob Zyskind , Aida Telegrafi , Jane Juusola , Richard Person , Michael J Bamshad , Dawn Earl , Auteur inconnu , Anne Chun-Hui Tsai , Katherine R Yearwood , Elysa Marco , Catherine Nowak , Jessica Douglas , Hakon Hakonarson , Elizabeth J Bhoj

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Heidi L Rehm , Joseph T Alaimo , Swaroop Aradhya , Pinar Bayrak-Toydemir , Hunter Best , Rhonda Brandon , Jillian G Buchan , Elizabeth C Chao , Elaine Chen , Jacob Clifford , Ana S A Cohen , Laura K Conlin , Soma Das , Kyle W Davis , Daniela Del Gaudio , Florencia Del Viso , Christina DiVincenzo , Marcia Eisenberg , Lucia Guidugli , Monia B Hammer , Steven M Harrison , Kathryn E Hatchell , Lindsay Havens Dyer , Lily U Hoang , James M Holt , Vaidehi Jobanputra , Izabela D Karbassi , Hutton M Kearney , Melissa A Kelly , Jacob M Kelly , Michelle L Kluge , Timothy Komala , Paul Kruszka , Lynette Lau , Matthew S Lebo , Christian R Marshall , Dianalee McKnight , Kirsty McWalter , Yan Meng , Narasimhan Nagan , Christian S Neckelmann , Nir Neerman , Zhiyv Niu , Vitoria K Paolillo , Sarah A Paolucci , Denise Perry , Tina Pesaran , Kelly Radtke , Kristen J Rasmussen , Kyle Retterer , Carol J Saunders , Elizabeth Spiteri , Christine Stanley , Anna Szuto , Ryan J Taft , Isabelle Thiffault , Brittany C Thomas , Amanda Thomas-Wilson , Erin Thorpe , Timothy J Tidwell , Meghan C Towne , Hana Zouk , Auteur inconnu

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

American journal of human genetics
Avec: Wallid Deb , Cory Rosenfelt , Virginie Vignard , Jonas Johannes Papendorf , Sophie Möller , Martin Wendlandt , Maja Studencka-Turski , Benjamin Cogné , Thomas Besnard , Léa Ruffier , Bérénice Toutain , Léa Poirier , Silvestre Cuinat , Amy Kritzer , Amy Crunk , Janette diMonda , Jaime Vengoechea , Sandra Mercier , Lotte Kleinendorst , Mieke M van Haelst , Linda Zuurbier , Telma Sulem , Hildigunnur Katrínardóttir , Rún Friðriksdóttir , Patrick Sulem , Kari Stefansson , Berglind Jonsdottir , Shimriet Zeidler , Margje Sinnema , Alexander P A Stegmann , Natali Naveh , Cara M Skraban , Christopher Gray , Jill R Murrell , Sedat Isikay , Davut Pehlivan , Daniel G Calame , Jennifer E Posey , Mathilde Nizon , Kirsty McWalter , James R Lupski , Bertrand Isidor , François V Bolduc , Stéphane Bézieau , Elke Krüger , Sébastien Küry , Frédéric Ebstein

Loss of symmetric cell division of apical neural progenitors drives

medRxiv : the preprint server for health sciences
Avec: Emily Banks , Vincent Francis , Sheng-Jia Lin , Fares Kharfallah , Vladimir Fonov , Maxime Levesque , Chanshuai Han , Gopinath Kulasekaran , Marius Tuznik , Armin Bayati , Reem Al-Khater , Fowzan S Alkuraya , Loukas Argyriou , Meisam Babaei , Melanie Bahlo , Behnoosh Bakhshoodeh , Eileen Barr , Lauren Bartik , Mahmoud Bassiony , Miriam Bertrand , Dominique Braun , Rebecca Buchert , Mauro Budetta , Maxime Cadieux-Dion , Daniel Calame , Heidi Cope , Donna Cushing , Stephanie Efthymiou , Marwa A Elmaksoud , Huda G El Said , Tawfiq Froukh , Harinder K Gill , Joseph G Gleeson , Laura Gogoll , Elaine S-Y Goh , Vykuntaraju K Gowda , Tobias B Haack , Mais O Hashem , Stefan Hauser , Trevor L Hoffman , Jacob S Hogue , Akimoto Hosokawa , Henry Houlden , Kevin Huang , Stephanie Huynh , Ehsan G Karimiani , Silke Kaulfuß , G Christoph Korenke , Amy Kritzer , Hane Lee , James R Lupski , Elysa J Marco , Kirsty McWalter , Arakel Minassian , Berge A Minassian , David Murphy , Juanita Neira-Fresneda , Hope Northrup , Denis Nyaga , Barbara Oehl-Jaschkowitz , Matthew Osmond , Richard Person , Davut Pehlivan , Cassidy Petree , Lynette G Sadleir , Carol Saunders , Ludger Schoels , Vandana Shashi , Rebecca C Spillman , Varunvenkat M Srinivasan , Paria N Torbati , Tulay Tos , Auteur inconnu , Maha S Zaki , Dihong Zhou , Christiane Zweier , Jean-François Trempe , Thomas M Durcan , Ziv Gan-Or , Massimo Avoli , Cesar Alves , Guarav K Varshney , Reza Maroofian , David A Rudko , Peter S McPherson

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Nature communications
Avec: Emily Banks , Vincent Francis , Sheng-Jia Lin , Fares Kharfallah , Vladimir Fonov , Maxime Lévesque , Chanshuai Han , Gopinath Kulasekaran , Marius Tuznik , Armin Bayati , Reem Al-Khater , Fowzan S Alkuraya , Loukas Argyriou , Meisam Babaei , Melanie Bahlo , Behnoosh Bakhshoodeh , Eileen Barr , Lauren Bartik , Mahmoud Bassiony , Miriam Bertrand , Dominique Braun , Rebecca Buchert , Mauro Budetta , Maxime Cadieux-Dion , Daniel G Calame , Heidi Cope , Donna Cushing , Stephanie Efthymiou , Marwa Abd Elmaksoud , Huda G El Said , Tawfiq Froukh , Harinder K Gill , Joseph G Gleeson , Laura Gogoll , Elaine S-Y Goh , Vykuntaraju K Gowda , Tobias B Haack , Mais O Hashem , Stefan Hauser , Trevor L Hoffman , Jacob S Hogue , Akimoto Hosokawa , Henry Houlden , Kevin Huang , Stephanie Huynh , Ehsan G Karimiani , Silke Kaulfuß , G Christoph Korenke , Amy Kritzer , Hane Lee , James R Lupski , Elysa J Marco , Kirsty McWalter , Arakel Minassian , Berge A Minassian , David Murphy , Juanita Neira-Fresneda , Hope Northrup , Denis M Nyaga , Barbara Oehl-Jaschkowitz , Matthew Osmond , Richard Person , Davut Pehlivan , Cassidy Petree , Lynette G Sadleir , Carol Saunders , Ludger Schoels , Vandana Shashi , Rebecca C Spillmann , Varunvenkat M Srinivasan , Paria N Torbati , Tulay Tos , Auteur inconnu , Maha S Zaki , Dihong Zhou , Christiane Zweier , Jean-François Trempe , Thomas M Durcan , Ziv Gan-Or , Massimo Avoli , Cesar Alves , Gaurav K Varshney , Reza Maroofian , David A Rudko , Peter S McPherson

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

JAMA
Avec: Alban Ziegler , Carrie Koval-Burt , Denise M Kay , Sharon F Suchy , Amber Begtrup , Katherine G Langley , Rebecca Hernan , Laura M Amendola , Brenna M Boyd , Jennifer Bradley , Tracy Brandt , Lilian L Cohen , Alison J Coffey , Joseph M Devaney , Beata Dygulska , Bethany Friedman , Ramsay L Fuleihan , Awura Gyimah , Sihoun Hahn , Sean Hofherr , Kathleen S Hruska , Zhanzhi Hu , Médéric Jeanne , Guanjun Jin , D Aaron Johnson , Haluk Kavus , Rudolph L Leibel , Steven J Lobritto , Stephen McGee , Joshua D Milner , Kirsty McWalter , Kristin G Monaghan , Jordan S Orange , Nicole Pimentel Soler , Yeyson Quevedo , Samantha Ratner , Kyle Retterer , Ankur Shah , Natasha Shapiro , Robert J Sicko , Eric S Silver , Samuel Strom , Rebecca I Torene , Olatundun Williams , Vincent D Ustach , Julia Wynn , Ryan J Taft , Paul Kruszka , Michele Caggana , Wendy K Chung

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

American journal of medical genetics. Part A
Avec: Bradley Bowles , Alejandro Ferrer , Carla J Nishimura , Filippo Pinto E Vairo , Tristan Rey , Bruno Leheup , Jennifer Sullivan , Kelly Schoch , Nicholas Stong , Emanuele Agolini , Dario Cocciadiferro , Abigail Williams , Alex Cummings , Sara Loddo , Silvia Genovese , Chelsea Roadhouse , Kirsty McWalter , Auteur inconnu , Ingrid M Wentzensen , Chumei Li , Dusica Babovic-Vuksanovic , Brendan C Lanpher , Maria Lisa Dentici , Arun Ankala , J Austin Hamm , Bruno Dallapiccola , Francesca Clementina Radio , Vandana Shashi , Benedicte Gérard , Agnes Bloch-Zupan , Richard J Smith , Eric W Klee

Pathogenic variants in

Science advances
Avec: Dong Li , Qin Wang , Naihua N Gong , Alina Kurolap , Hagit Baris Feldman , Nikolas Boy , Melanie Brugger , Katheryn Grand , Kirsty McWalter , Maria J Guillen Sacoto , Emma Wakeling , Jane Hurst , Michael E March , Elizabeth J Bhoj , Małgorzata J M Nowaczyk , Claudia Gonzaga-Jauregui , Mariam Mathew , Ashita Dava-Wala , Amy Siemon , Dennis Bartholomew , Yue Huang , Hane Lee , Julian A Martinez-Agosto , Eva M C Schwaibold , Theresa Brunet , Daniela Choukair , Lynn S Pais , Susan M White , John Christodoulou , Dana Brown , Kristin Lindstrom , Theresa Grebe , Dov Tiosano , Matthew S Kayser , Tiong Yang Tan , Matthew A Deardorff , Yuanquan Song , Hakon Hakonarson

Germline AGO2 mutations impair RNA interference and human neurological development.

Nature communications
Avec: Davor Lessel , Daniela M Zeitler , Margot R F Reijnders , Andriy Kazantsev , Fatemeh Hassani Nia , Alexander Bartholomäus , Victoria Martens , Astrid Bruckmann , Veronika Graus , Allyn McConkie-Rosell , Marie McDonald , Bernarda Lozic , Ee-Shien Tan , Erica Gerkes , Jessika Johannsen , Jonas Denecke , Aida Telegrafi , Evelien Zonneveld-Huijssoon , Henny H Lemmink , Breana W M Cham , Tanja Kovacevic , Linda Ramsdell , Kimberly Foss , Diana Le Duc , Diana Mitter , Steffen Syrbe , Andreas Merkenschlager , Margje Sinnema , Bianca Panis , Joanna Lazier , Matthew Osmond , Taila Hartley , Jeremie Mortreux , Tiffany Busa , Chantal Missirian , Pankaj Prasun , Sabine Lüttgen , Ilaria Mannucci , Ivana Lessel , Claudia Schob , Stefan Kindler , John Pappas , Rachel Rabin , Marjolein Willemsen , Thatjana Gardeitchik , Katharina Löhner , Patrick Rump , Kerith-Rae Dias , Carey-Anne Evans , Peter Ian Andrews , Tony Roscioli , Han G Brunner , Chieko Chijiwa , M E Suzanne Lewis , Rami Abou Jamra , David A Dyment , Kym M Boycott , Alexander P A Stegmann , Christian Kubisch , Ene-Choo Tan , Ghayda M Mirzaa , Kirsty McWalter , Tjitske Kleefstra , Rolph Pfundt , Zoya Ignatova , Gunter Meister , Hans-Jürgen Kreienkamp

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

American journal of medical genetics. Part A
Avec: Elliot S Stolerman , Elizabeth Francisco , Jennifer L Stallworth , Julie R Jones , Kristin G Monaghan , Jennifer Keller-Ramey , Richard Person , Ingrid M Wentzensen , Kirsty McWalter , Boris Keren , Benedicte Heron , Caroline Nava , Delphine Heron , Katherine Kim , Barbara Burton , Fatima Al-Musafri , Lauren O'Grady , Inderneel Sahai , Luis F Escobar , Marije Meuwissen , Edwin Reyniers , Frank Kooy , Yves Lacassie , Meral Gunay-Aygun , Krista Sondergaard Schatz , Ron Hochstenbach , Petra J G Zwijnenburg , Quinten Waisfisz , Marjon van Slegtenhorst , Grazia M S Mancini , Raymond J Louie

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

American journal of human genetics
Avec: Cedric Le Caignec , Benjamin Ory , François Lamoureux , Marie-Francoise O'Donohue , Emilien Orgebin , Pierre Lindenbaum , Stéphane Téletchéa , Manon Saby , Anna Hurst , Katherine Nelson , Shawn R Gilbert , Yael Wilnai , Leonid Zeitlin , Eitan Segev , Robel Tesfaye , Mathilde Nizon , Benjamin Cogne , Stéphane Bezieau , Loic Geoffroy , Antoine Hamel , Emmanuelle Mayrargue , Benoît de Courtivron , Aliette Decock-Giraudaud , Céline Charrier , Olivier Pichon , Christelle Retière , Richard Redon , Alexander Pepler , Kirsty McWalter , Lydie Da Costa , Annick Toutain , Pierre-Emmanuel Gleizes , Marc Baud'huin , Bertrand Isidor

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

American journal of human genetics
Avec: Chris Balak , Marianne Benard , Elise Schaefer , Sumaiya Iqbal , Keri Ramsey , Michèle Ernoult-Lange , Francesca Mattioli , Lorida Llaci , Véronique Geoffroy , Maité Courel , Marcus Naymik , Kristine K Bachman , Rolph Pfundt , Patrick Rump , Johanna Ter Beest , Ingrid M Wentzensen , Kristin G Monaghan , Kirsty McWalter , Ryan Richholt , Antony Le Béchec , Wayne Jepsen , Matt De Both , Newell Belnap , Anne Boland , Ignazio S Piras , Jean-François Deleuze , Szabolcs Szelinger , Hélène Dollfus , Jamel Chelly , Jean Muller , Arthur Campbell , Dennis Lal , Sampathkumar Rangasamy , Jean-Louis Mandel , Vinodh Narayanan , Matt Huentelman , Dominique Weil , Amélie Piton

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

American journal of human genetics
Avec: Anne H O'Donnell-Luria , Lynn S Pais , Víctor Faundes , Jordan C Wood , Abigail Sveden , Victor Luria , Rami Abou Jamra , Andrea Accogli , Kimberly Amburgey , Britt Marie Anderlid , Silvia Azzarello-Burri , Alice A Basinger , Claudia Bianchini , Lynne M Bird , Rebecca Buchert , Wilfrid Carre , Sophia Ceulemans , Perrine Charles , Helen Cox , Lisa Culliton , Aurora Currò , Auteur inconnu , Florence Demurger , James J Dowling , Benedicte Duban-Bedu , Christèle Dubourg , Saga Elise Eiset , Luis F Escobar , Alessandra Ferrarini , Tobias B Haack , Mona Hashim , Solveig Heide , Katherine L Helbig , Ingo Helbig , Raul Heredia , Delphine Héron , Bertrand Isidor , Amy R Jonasson , Pascal Joset , Boris Keren , Fernando Kok , Hester Y Kroes , Alinoë Lavillaureix , Xin Lu , Saskia M Maas , Gustavo H B Maegawa , Carlo L M Marcelis , Paul R Mark , Marcelo R Masruha , Heather M McLaughlin , Kirsty McWalter , Esther U Melchinger , Saadet Mercimek-Andrews , Caroline Nava , Manuela Pendziwiat , Richard Person , Gian Paolo Ramelli , Luiza L P Ramos , Anita Rauch , Caitlin Reavey , Alessandra Renieri , Angelika Rieß , Amarilis Sanchez-Valle , Shifteh Sattar , Carol Saunders , Niklas Schwarz , Thomas Smol , Myriam Srour , Katharina Steindl , Steffen Syrbe , Jenny C Taylor , Aida Telegrafi , Isabelle Thiffault , Doris A Trauner , Helio van der Linden , Silvana van Koningsbruggen , Laurent Villard , Ida Vogel , Julie Vogt , Yvonne G Weber , Ingrid M Wentzensen , Elysa Widjaja , Jaroslav Zak , Samantha Baxter , Siddharth Banka , Lance H Rodan

Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.

Cold Spring Harbor molecular case studies
Avec: David R Murdock , Yunyun Jiang , Michael Wangler , Michael M Khayat , Aniko Sabo , Jane Juusola , Kirsty McWalter , Krista Sondergaard Schatz , Meral Gunay-Aygun , Richard A Gibbs

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.

Nature
Avec: Panfeng Tao , Jinqiao Sun , Zheming Wu , Shihao Wang , Jun Wang , Wanjin Li , Heling Pan , Renkui Bai , Jiahui Zhang , Ying Wang , Pui Y Lee , Wenjing Ying , Qinhua Zhou , Jia Hou , Wenjie Wang , Bijun Sun , Mi Yang , Danru Liu , Ran Fang , Huan Han , Zhaohui Yang , Xin Huang , Haibo Li , Natalie Deuitch , Yuan Zhang , Dilan Dissanayake , Katrina Haude , Kirsty McWalter , Chelsea Roadhouse , Jennifer J MacKenzie , Ronald M Laxer , Ivona Aksentijevich , Xiaomin Yu , Xiaochuan Wang , Junying Yuan , Qing Zhou

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

The Journal of clinical investigation
Avec: Lin Li , Mohammad Ghorbani , Monika Weisz-Hubshman , Justine Rousseau , Isabelle Thiffault , Rhonda E Schnur , Catherine Breen , Renske Oegema , Marjan Mm Weiss , Quinten Waisfisz , Sara Welner , Helen Kingston , Jordan A Hills , Elles Mj Boon , Lina Basel-Salmon , Osnat Konen , Hadassa Goldberg-Stern , Lily Bazak , Shay Tzur , Jianliang Jin , Xiuli Bi , Michael Bruccoleri , Kirsty McWalter , Megan T Cho , Maria Scarano , G Bradley Schaefer , Susan S Brooks , Susan Starling Hughes , K L I van Gassen , Johanna M van Hagen , Tej K Pandita , Pankaj B Agrawal , Philippe M Campeau , Xiang-Jiao Yang

Rare SUZ12 variants commonly cause an overgrowth phenotype.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: Sharri S Cyrus , Ana S A Cohen , Ruky Agbahovbe , Kristiina Avela , Kit S Yeung , Brian H Y Chung , Ho-Ming Luk , Nataliya Tkachenko , Sanaa Choufani , Rosanna Weksberg , Elena Lopez-Rangel , Auteur inconnu , Kathleen Brown , Margarita S Saenz , Shayna Svihovec , Shawn E McCandless , Lynne M Bird , Aixa Gonzalez Garcia , Michael J Gambello , Kirsty McWalter , Rhonda E Schnur , Jianghong An , Steven J M Jones , Sanjiv K Bhalla , Hailey Pinz , Stephen R Braddock , William T Gibson

Genotype-phenotype correlation at codon 1740 of SETD2.

American journal of medical genetics. Part A
Avec: Rachel Rabin , Alireza Radmanesh , Ian A Glass , William B Dobyns , Kimberly A Aldinger , Joseph T Shieh , Shelby Romoser , Hannah Bombei , Leah Dowsett , Pamela Trapane , John A Bernat , Janice Baker , Nancy J Mendelsohn , Bernt Popp , Manuela Siekmeyer , Ina Sorge , Francis Hugh Sansbury , Patrick Watts , Nicola C Foulds , Jennifer Burton , George Hoganson , Jane A Hurst , Lara Menzies , Deborah Osio , Larissa Kerecuk , Jan M Cobben , Khadijé Jizi , Sebastien Jacquemont , Stacey A Bélanger , Katharina Löhner , Hermine E Veenstra-Knol , Henny H Lemmink , Jennifer Keller-Ramey , Ingrid M Wentzensen , Sumit Punj , Kirsty McWalter , Jerica Lenberg , Katarzyna A Ellsworth , Kelly Radtke , Schahram Akbarian , John Pappas

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Molecular psychiatry
Avec: Joost Kummeling , Diante E Stremmelaar , Nicholas Raun , Margot R F Reijnders , Marjolein H Willemsen , Martina Ruiterkamp-Versteeg , Marga Schepens , Calvin C O Man , Christian Gilissen , Megan T Cho , Kirsty McWalter , Margje Sinnema , James W Wheless , Marleen E H Simon , Casie A Genetti , Alicia M Casey , Paulien A Terhal , Jasper J van der Smagt , Koen L I van Gassen , Pascal Joset , Angela Bahr , Katharina Steindl , Anita Rauch , Elmar Keller , Annick Raas-Rothschild , David A Koolen , Pankaj B Agrawal , Trevor L Hoffman , Nina N Powell-Hamilton , Isabelle Thiffault , Kendra Engleman , Dihong Zhou , Olaf Bodamer , Julia Hoefele , Korbinian M Riedhammer , Eva M C Schwaibold , Velibor Tasic , Dirk Schubert , Deniz Top , Rolph Pfundt , Martin R Higgs , Jamie M Kramer , Tjitske Kleefstra

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

American journal of human genetics
Avec: Lisenka E L M Vissers , Sreehari Kalvakuri , Elke de Boer , Sinje Geuer , Machteld Oud , Inge van Outersterp , Michael Kwint , Melde Witmond , Simone Kersten , Daniel L Polla , Dilys Weijers , Amber Begtrup , Kirsty McWalter , Anna Ruiz , Elisabeth Gabau , Jenny E V Morton , Christopher Griffith , Karin Weiss , Candace Gamble , James Bartley , Hilary J Vernon , Kendra Brunet , Claudia Ruivenkamp , Sarina G Kant , Paul Kruszka , Austin Larson , Alexandra Afenjar , Thierry Billette de Villemeur , Kimberly Nugent , Auteur inconnu , F Lucy Raymond , Hanka Venselaar , Florence Demurger , Claudia Soler-Alfonso , Dong Li , Elizabeth Bhoj , Ian Hayes , Nina Powell Hamilton , Ayesha Ahmad , Rachel Fisher , Myrthe van den Born , Marjolaine Willems , Arthur Sorlin , Julian Delanne , Sebastien Moutton , Philippe Christophe , Frederic Tran Mau-Them , Antonio Vitobello , Himanshu Goel , Lauren Massingham , Chanika Phornphutkul , Jennifer Schwab , Boris Keren , Perrine Charles , Maaike Vreeburg , Lenika De Simone , George Hoganson , Maria Iascone , Donatella Milani , Lucie Evenepoel , Nicole Revencu , D Isum Ward , Kaitlyn Burns , Ian Krantz , Sarah E Raible , Jill R Murrell , Kathleen Wood , Megan T Cho , Hans van Bokhoven , Maximilian Muenke , Tjitske Kleefstra , Rolf Bodmer , Arjan P M de Brouwer

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

American journal of human genetics
Avec: Elodie M Richard , Somayeh Bakhtiari , Ashley P L Marsh , Rauan Kaiyrzhanov , Matias Wagner , Sheetal Shetty , Alex Pagnozzi , Sandra M Nordlie , Brandon S Guida , Patricia Cornejo , Helen Magee , James Liu , Bethany Y Norton , Richard I Webster , Lisa Worgan , Hakon Hakonarson , Jiankang Li , Yiran Guo , Mahim Jain , Alyssa Blesson , Lance H Rodan , Mary-Alice Abbott , Anne Comi , Julie S Cohen , Bader Alhaddad , Thomas Meitinger , Dominic Lenz , Andreas Ziegler , Urania Kotzaeridou , Theresa Brunet , Anna Chassevent , Constance Smith-Hicks , Joseph Ekstein , Tzvi Weiden , Andreas Hahn , Nazira Zharkinbekova , Peter Turnpenny , Arianna Tucci , Melissa Yelton , Rita Horvath , Serdal Gungor , Semra Hiz , Yavuz Oktay , Hanns Lochmuller , Marcella Zollino , Manuela Morleo , Giuseppe Marangi , Vincenzo Nigro , Annalaura Torella , Michele Pinelli , Simona Amenta , Ralf A Husain , Benita Grossmann , Marion Rapp , Claudia Steen , Iris Marquardt , Mona Grimmel , Ute Grasshoff , G Christoph Korenke , Marta Owczarek-Lipska , John Neidhardt , Francesca Clementina Radio , Cecilia Mancini , Dianela Judith Claps Sepulveda , Kirsty McWalter , Amber Begtrup , Amy Crunk , Maria J Guillen Sacoto , Richard Person , Rhonda E Schnur , Maria Margherita Mancardi , Florian Kreuder , Pasquale Striano , Federico Zara , Wendy K Chung , Warren A Marks , Clare L van Eyk , Dani L Webber , Mark A Corbett , Kelly Harper , Jesia G Berry , Alastair H MacLennan , Jozef Gecz , Marco Tartaglia , Vincenzo Salpietro , John Christodoulou , Jan Kaslin , Sergio Padilla-Lopez , Kaya Bilguvar , Alexander Munchau , Zubair M Ahmed , Robert B Hufnagel , Michael C Fahey , Reza Maroofian , Henry Houlden , Heinrich Sticht , Shrikant M Mane , Aboulfazl Rad , Barbara Vona , Sheng Chih Jin , Tobias B Haack , Christine Makowski , Yoel Hirsch , Saima Riazuddin , Michael C Kruer

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

American journal of human genetics
Avec: Francesca Clementina Radio , Kaifang Pang , Andrea Ciolfi , Michael A Levy , Andrés Hernández-García , Lucia Pedace , Francesca Pantaleoni , Zhandong Liu , Elke de Boer , Adam Jackson , Alessandro Bruselles , Haley McConkey , Emilia Stellacci , Stefania Lo Cicero , Marialetizia Motta , Rosalba Carrozzo , Maria Lisa Dentici , Kirsty McWalter , Megha Desai , Kristin G Monaghan , Aida Telegrafi , Christophe Philippe , Antonio Vitobello , Margaret Au , Katheryn Grand , Pedro A Sanchez-Lara , Joanne Baez , Kristin Lindstrom , Peggy Kulch , Jessica Sebastian , Suneeta Madan-Khetarpal , Chelsea Roadhouse , Jennifer J MacKenzie , Berrin Monteleone , Carol J Saunders , July K Jean Cuevas , Laura Cross , Dihong Zhou , Taila Hartley , Sarah L Sawyer , Fabíola Paoli Monteiro , Tania Vertemati Secches , Fernando Kok , Laura E Schultz-Rogers , Erica L Macke , Eva Morava , Eric W Klee , Jennifer Kemppainen , Maria Iascone , Angelo Selicorni , Romano Tenconi , David J Amor , Lynn Pais , Lyndon Gallacher , Peter D Turnpenny , Karen Stals , Sian Ellard , Sara Cabet , Gaetan Lesca , Joset Pascal , Katharina Steindl , Sarit Ravid , Karin Weiss , Alison M R Castle , Melissa T Carter , Louisa Kalsner , Bert B A de Vries , Bregje W van Bon , Marijke R Wevers , Rolph Pfundt , Alexander P A Stegmann , Bronwyn Kerr , Helen M Kingston , Kate E Chandler , Willow Sheehan , Abdallah F Elias , Deepali N Shinde , Meghan C Towne , Nathaniel H Robin , Dana Goodloe , Adeline Vanderver , Omar Sherbini , Krista Bluske , R Tanner Hagelstrom , Caterina Zanus , Flavio Faletra , Luciana Musante , Evangeline C Kurtz-Nelson , Rachel K Earl , Britt-Marie Anderlid , Gilles Morin , Marjon van Slegtenhorst , Karin E M Diderich , Alice S Brooks , Joost Gribnau , Ruben G Boers , Teresa Robert Finestra , Lauren B Carter , Anita Rauch , Paolo Gasparini , Kym M Boycott , Tahsin Stefan Barakat , John M Graham , Laurence Faivre , Siddharth Banka , Tianyun Wang , Evan E Eichler , Manuela Priolo , Bruno Dallapiccola , Lisenka E L M Vissers , Bekim Sadikovic , Daryl A Scott , Jimmy Lloyd Holder , Marco Tartaglia

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Genome medicine
Avec: Margot A Cousin , Emma L Veale , Nikita R Dsouza , Swarnendu Tripathi , Robyn G Holden , Maria Arelin , Geoffrey Beek , Mir Reza Bekheirnia , Jasmin Beygo , Vikas Bhambhani , Martin Bialer , Stefania Bigoni , Cyrus Boelman , Jenny Carmichael , Thomas Courtin , Benjamin Cogne , Ivana Dabaj , Diane Doummar , Laura Fazilleau , Alessandra Ferlini , Ralitza H Gavrilova , John M Graham , Tobias B Haack , Jane Juusola , Sarina G Kant , Saima Kayani , Boris Keren , Petra Ketteler , Chiara Klöckner , Tamara T Koopmann , Teresa M Kruisselbrink , Alma Kuechler , Laëtitia Lambert , Xénia Latypova , Robert Roger Lebel , Magalie S Leduc , Emanuela Leonardi , Andrea M Lewis , Wendy Liew , Keren Machol , Samir Mardini , Kirsty McWalter , Cyril Mignot , Julie McLaughlin , Alessandra Murgia , Vinodh Narayanan , Caroline Nava , Sonja Neuser , Mathilde Nizon , Davide Ognibene , Joohyun Park , Konrad Platzer , Céline Poirsier , Maximilian Radtke , Keri Ramsey , Cassandra K Runke , Maria J Guillen Sacoto , Fernando Scaglia , Marwan Shinawi , Stephanie Spranger , Ee Shien Tan , John Taylor , Anne-Sophie Trentesaux , Filippo Vairo , Rebecca Willaert , Neda Zadeh , Raul Urrutia , Dusica Babovic-Vuksanovic , Michael T Zimmermann , Alistair Mathie , Eric W Klee

Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in

HGG advances
Avec: Divya Nair , Dong Li , Hannah Erdogan , Andrew Yoon , Margaret H Harr , Gaber Bergant , Borut Peterlin , Maruša Škrjanec Pušenjak , Parul Jayakar , Rolph Pfundt , Sandra Jansen , Kirsty McWalter , Alpa Sidhu , Sheila Saliganan , Emanuele Agolini , Arthur Jacob , Jennifer Pasquier , Rafii Arash , Kimia Kahrizi , Hossein Najmabadi , Hans-Hilger Ropers , Elizabeth J Bhoj

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of

Neurology
Avec: Hannah C Happ , Lynette G Sadleir , Matthew Zemel , Guillem de Valles-Ibáñez , Michael S Hildebrand , Allyn McConkie-Rosell , Marie McDonald , Halie May , Tristan Sands , Vimla Aggarwal , Christopher Elder , Timothy Feyma , Allan Bayat , Rikke S Møller , Christina D Fenger , Jens Erik Klint Nielsen , Anita N Datta , Kathleen M Gorman , Mary D King , Natalia D Linhares , Barbara K Burton , Andrea Paras , Sian Ellard , Julia Rankin , Anju Shukla , Purvi Majethia , Rory J Olson , Karthik Muthusamy , Lisa A Schimmenti , Keith Starnes , Lucie Sedláčková , Katalin Štěrbová , Markéta Vlčková , Petra Laššuthová , Alena Jahodová , Brenda E Porter , Nathalie Couque , Estelle Colin , Clément Prouteau , Corinne Collet , Thomas Smol , Roseline Caumes , Fleur Vansenne , Francesca Bisulli , Laura Licchetta , Richard Person , Erin Torti , Kirsty McWalter , Richard Webster , Elizabeth E Gerard , Gaetan Lesca , Pierre Szepetowski , Ingrid E Scheffer , Heather C Mefford , Gemma L Carvill

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Molecular psychiatry
Avec: Elizabeth E Palmer , Michael Pusch , Alessandra Picollo , Caitlin Forwood , Matthew H Nguyen , Vanessa Suckow , Jessica Gibbons , Alva Hoff , Lisa Sigfrid , Andre Megarbane , Mathilde Nizon , Benjamin Cogné , Claire Beneteau , Fowzan S Alkuraya , Aziza Chedrawi , Mais O Hashem , Hannah Stamberger , Sarah Weckhuysen , Arnaud Vanlander , Berten Ceulemans , Sulekha Rajagopalan , Kenneth Nunn , Stéphanie Arpin , Martine Raynaud , Constance S Motter , Catherine Ward-Melver , Katrien Janssens , Marije Meuwissen , Diane Beysen , Nicola Dikow , Mona Grimmel , Tobias B Haack , Emma Clement , Amy McTague , David Hunt , Sharron Townshend , Michelle Ward , Linda J Richards , Cas Simons , Gregory Costain , Lucie Dupuis , Roberto Mendoza-Londono , Tracy Dudding-Byth , Jackie Boyle , Carol Saunders , Emily Fleming , Salima El Chehadeh , Marie-Aude Spitz , Amelie Piton , Bénédicte Gerard , Marie-Thérèse Abi Warde , Gillian Rea , Caoimhe McKenna , Sofia Douzgou , Siddharth Banka , Cigdem Akman , Jennifer M Bain , Tristan T Sands , Golder N Wilson , Erin J Silvertooth , Lauren Miller , Damien Lederer , Rani Sachdev , Rebecca Macintosh , Olivier Monestier , Deniz Karadurmus , Felicity Collins , Melissa Carter , Luis Rohena , Marjolein H Willemsen , Charlotte W Ockeloen , Rolph Pfundt , Sanne D Kroft , Michael Field , Francisco E R Laranjeira , Ana M Fortuna , Ana R Soares , Vincent Michaud , Sophie Naudion , Sailaja Golla , David D Weaver , Lynne M Bird , Jennifer Friedman , Virginia Clowes , Shelagh Joss , Laura Pölsler , Philippe M Campeau , Maria Blazo , Emilia K Bijlsma , Jill A Rosenfeld , Christian Beetz , Zöe Powis , Kirsty McWalter , Tracy Brandt , Erin Torti , Mikaël Mathot , Shekeeb S Mohammad , Ruth Armstrong , Vera M Kalscheuer

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Annals of clinical and translational neurology
Avec: Sandra Donkervoort , Payam Mohassel , Melanie O'Leary , Devon E Bonner , Taila Hartley , Nicole Acquaye , Astrid Brull , Tahseen Mozaffar , Mario A Saporta , David A Dyment , Jacinda B Sampson , Sander Pajusalu , Christina Austin-Tse , Kyle Hurth , Julie S Cohen , Kirsty McWalter , Jodi Warman-Chardon , Amy Crunk , A Reghan Foley , Auteur inconnu , Andrew L Mammen , Matthew T Wheeler , Anne O'Donnell-Luria , Carsten G Bönnemann

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene

medRxiv : the preprint server for health sciences
Avec: Sébastien Küry , Janelle E Stanton , Geeske van Woerden , Tzung-Chien Hsieh , Cory Rosenfelt , Marie Pier Scott-Boyer , Victoria Most , Tianyun Wang , Jonas Johannes Papendorf , Charlotte de Konink , Wallid Deb , Virginie Vignard , Maja Studencka-Turski , Thomas Besnard , Anna Marta Hajdukowicz , Franziska Thiel , Sophie Möller , Laëtitia Florenceau , Silvestre Cuinat , Sylvain Marsac , Ingrid Wentzensen , Annabelle Tuttle , Cara Forster , Johanna Striesow , Richard Golnik , Damara Ortiz , Laura Jenkins , Jill A Rosenfeld , Alban Ziegler , Clara Houdayer , Dominique Bonneau , Erin Torti , Amber Begtrup , Kristin G Monaghan , Sureni V Mullegama , C M L Nienke Volker-Touw , Koen L I van Gassen , Renske Oegema , Mirjam de Pagter , Katharina Steindl , Anita Rauch , Ivan Ivanovski , Kimberly McDonald , Emily Boothe , Andrew Dauber , Janice Baker , Noelle Andrea V Fabie , Raphael A Bernier , Tychele N Turner , Siddharth Srivastava , Kira A Dies , Lindsay Swanson , Carrie Costin , Rebekah K Jobling , John Pappas , Rachel Rabin , Dmitriy Niyazov , Anne Chun-Hui Tsai , Karen Kovak , David B Beck , McV Malicdan , David R Adams , Lynne Wolfe , Rebecca D Ganetzky , Colleen Muraresku , Davit Babikyan , Zdeněk Sedláček , Miroslava Hančárová , Andrew T Timberlake , Hind Al Saif , Berkley Nestler , Kayla King , M J Hajianpour , Gregory Costain , D'Arcy Prendergast , Chumei Li , David Geneviève , Antonio Vitobello , Arthur Sorlin , Christophe Philippe , Tamar Harel , Ori Toker , Ataf Sabir , Derek Lim , Mark Hamilton , Lisa Bryson , Elaine Cleary , Sacha Weber , Trevor L Hoffman , Anna Maria Cueto-González , Eduardo Fidel Tizzano , David Gómez-Andrés , Marta Codina-Solà , Athina Ververi , Efterpi Pavlidou , Alexandros Lambropoulos , Kyriakos Garganis , Marlène Rio , Jonathan Levy , Sarah Jurgensmeyer , Anne M McRae , Mathieu Kent Lessard , Maria Daniela D'Agostino , Isabelle De Bie , Meret Wegler , Rami Abou Jamra , Susanne B Kamphausen , Viktoria Bothe , Larissa M Busch , Uwe Völker , Elke Hammer , Kristian Wende , Benjamin Cogné , Bertrand Isidor , Jens Meiler , Amélie Bosc-Rosati , Julien Marcoux , Marie-Pierre Bousquet , Jeremie Poschmann , Frédéric Laumonnier , Peter W Hildebrand , Evan E Eichler , Kirsty McWalter , Peter M Krawitz , Arnaud Droit , Ype Elgersma , Andreas M Grabrucker , Francois V Bolduc , Stéphane Bézieau , Frédéric Ebstein , Elke Krüger

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Nature genetics
Avec: V Kartik Chundru , Zhancheng Zhang , Klaudia Walter , Sarah J Lindsay , Petr Danecek , Ruth Y Eberhardt , Eugene J Gardner , Daniel S Malawsky , Emilie M Wigdor , Rebecca Torene , Kyle Retterer , Caroline F Wright , Hildur Ólafsdóttir , Maria J Guillen Sacoto , Akif Ayaz , Ismail Hakki Akbeyaz , Dilşad Türkdoğan , Aaisha Ibrahim Al Balushi , Aida Bertoli-Avella , Peter Bauer , Emmanuelle Szenker-Ravi , Bruno Reversade , Kirsty McWalter , Eamonn Sheridan , Helen V Firth , Matthew E Hurles , Kaitlin E Samocha , Vincent D Ustach , Hilary C Martin

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None None 30 collaborations
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Larissa M Busch 1 collaboration
Uwe Völker 1 collaboration
Elke Hammer 1 collaboration
Kristian Wende 1 collaboration
Jens Meiler 1 collaboration
Amélie Bosc-Rosati 1 collaboration
Julien Marcoux 1 collaboration
Marie-Pierre Bousquet 1 collaboration
Peter W Hildebrand 1 collaboration
Peter M Krawitz 1 collaboration
Arnaud Droit 1 collaboration
Ype Elgersma 1 collaboration
Andreas M Grabrucker 1 collaboration
Francois V Bolduc 1 collaboration
V Kartik Chundru 1 collaboration
Zhancheng Zhang 1 collaboration
Klaudia Walter 1 collaboration
Sarah J Lindsay 1 collaboration
Petr Danecek 1 collaboration
Ruth Y Eberhardt 1 collaboration
Eugene J Gardner 1 collaboration
Daniel S Malawsky 1 collaboration
Emilie M Wigdor 1 collaboration
Rebecca Torene 1 collaboration
Caroline F Wright 1 collaboration
Hildur Ólafsdóttir 1 collaboration
Akif Ayaz 1 collaboration
Ismail Hakki Akbeyaz 1 collaboration
Dilşad Türkdoğan 1 collaboration
Aaisha Ibrahim Al Balushi 1 collaboration
Aida Bertoli-Avella 1 collaboration
Peter Bauer 1 collaboration
Emmanuelle Szenker-Ravi 1 collaboration
Bruno Reversade 1 collaboration
Eamonn Sheridan 1 collaboration
Helen V Firth 1 collaboration
Matthew E Hurles 1 collaboration
Kaitlin E Samocha 1 collaboration
Hilary C Martin 1 collaboration