Amber Begtrup

Affiliations
  • GeneDx Inc., Gaithersburg, MD, USA.

Publications (49)

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Brain : a journal of neurology
Avec: Devon L Johnstone , Hilal H Al-Shekaili , Maja Tarailo-Graovac , Nicole I Wolf , Autumn S Ivy , Scott Demarest , Yann Roussel , Jolita Ciapaite , Carlo W T van Roermund , Kristin D Kernohan , Ceres Kosuta , Kevin Ban , Yoko Ito , Skye McBride , Khalid Al-Thihli , Rana A Abdelrahim , Roshan Koul , Amna Al Futaisi , Charlotte A Haaxma , Heather Olson , Laufey Yr Sigurdardottir , Georgianne L Arnold , Erica H Gerkes , M Boon , M Rebecca Heiner-Fokkema , Sandra Noble , Marjolein Bosma , Judith Jans , David A Koolen , Erik-Jan Kamsteeg , Britt Drögemöller , Colin J Ross , Jacek Majewski , Megan T Cho , Amber Begtrup , Wyeth W Wasserman , Tuan Bui , Elise Brimble , Sara Violante , Sander M Houten , Ron A Wevers , Martijn van Faassen , Ido P Kema , Nathalie Lepage , Auteur inconnu , Matthew A Lines , David A Dyment , Ronald J A Wanders , Nanda Verhoeven-Duif , Marc Ekker , Kym M Boycott , Jan M Friedman , Izabella A Pena , Clara D M van Karnebeek

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Brain : a journal of neurology
Avec: Diana Le Duc , Cecilia Giulivi , Susan M Hiatt , Eleonora Napoli , Alexios Panoutsopoulos , Angelo Harlan De Crescenzo , Urania Kotzaeridou , Steffen Syrbe , Evdokia Anagnostou , Meron Azage , Renee Bend , Amber Begtrup , Natasha J Brown , Benjamin Büttner , Megan T Cho , Gregory M Cooper , Jan H Doering , Christèle Dubourg , David B Everman , Michael S Hildebrand , Francis Jeshira Reynoso Santos , Barbara Kellam , Jennifer Keller-Ramey , Johannes R Lemke , Shuxi Liu , Dmitriy Niyazov , Katelyn Payne , Richard Person , Chloé Quélin , Rhonda E Schnur , Brooke T Smith , Jonathan Strober , Susan Walker , Mathew Wallis , Laurence Walsh , Sandra Yang , Ryan K C Yuen , Andreas Ziegler , Heinrich Sticht , Michael C Pride , Lori Orosco , Verónica Martínez-Cerdeño , Jill L Silverman , Jacqueline N Crawley , Stephen W Scherer , Konstantinos S Zarbalis , Rami Jamra

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

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

American journal of human genetics
Avec: Maria J Nabais Sá , Geniver El Tekle , Arjan P M de Brouwer , Sarah L Sawyer , Daniela Del Gaudio , Michael J Parker , Farah Kanani , Marie-José H van den Boogaard , Koen van Gassen , Margot I Van Allen , Klaas Wierenga , Gabriela Purcarin , Ellen Roy Elias , Amber Begtrup , Jennifer Keller-Ramey , Tiziano Bernasocchi , Laurens van de Wiel , Christian Gilissen , Hanka Venselaar , Rolph Pfundt , Lisenka E L M Vissers , Jean-Philippe P Theurillat , Bert B A de Vries

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

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Andrea Accogli , Sheng-Jia Lin , Mariasavina Severino , Sung-Hoon Kim , Kevin Huang , Clarissa Rocca , Megan Landsverk , Maha S Zaki , Almundher Al-Maawali , Varunvenkat M Srinivasan , Khalid Al-Thihli , G Bradly Schaefer , Monica Davis , Davide Tonduti , Chiara Doneda , Lara M Marten , Chris Mühlhausen , Maria Gomez , Eleonora Lamantea , Rafael Mena , Mathilde Nizon , Vincent Procaccio , Amber Begtrup , Aida Telegrafi , Hong Cui , Heidi L Schulz , Julia Mohr , Saskia Biskup , Mariana Amina Loos , Hilda Verónica Aráoz , Vincenzo Salpietro , Laura Davis Keppen , Manali Chitre , Cassidy Petree , Lucy Raymond , Julie Vogt , Lindsey B Sawyer , Alice A Basinger , Signe Vandal Pedersen , Toni S Pearson , Dorothy K Grange , Lokesh Lingappa , Paige McDunnah , Rita Horvath , Benjamin Cognè , Bertrand Isidor , Andreas Hahn , Karen W Gripp , Seyed Mehdi Jafarnejad , Elsebet Østergaard , Carlos E Prada , Daniele Ghezzi , Vykuntaraju K Gowda , Robert W Taylor , Nahum Sonenberg , Henry Houlden , Marie Sissler , Gaurav K Varshney , Reza Maroofian

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

European journal of human genetics : EJHG
Avec: Vani Jain , Seow Hoong Foo , Stephen Chooi , Celia Moss , Richard Goodwin , Siren Berland , Angus J Clarke , Sally J Davies , Sian Corrin , Oliver Murch , Samantha Doyle , Gail E Graham , Lynn Greenhalgh , Susan E Holder , Diana Johnson , Ajith Kumar , Roger L Ladda , Susan Sell , Amber Begtrup , Sally A Lynch , Emma McCann , Rune Østern , Caroline Pottinger , Miranda Splitt , Andrew E Fry

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Clinical genetics
Avec: Marlène Malbos , Gabriella Vera , Harsh Sheth , Rhonda E Schnur , Aurélien Juven , Anne-Claire Brehin , Jayesh Sheth , Ajit Gandhi , Faye L Shapiro , Ange-Line Bruel , Florent Marguet , Amber Begtrup , Kristin G Monaghan , Hana Safraou , Marie Brasseur-Daudruy , Frédéric Tran Mau-Them , Yannis Duffourd , Laurence Faivre , Christel Thauvin-Robinet , Paul J Benke , Christophe Philippe

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

American journal of human genetics
Avec: Elisabetta Flex , Simone Martinelli , Anke Van Dijck , Andrea Ciolfi , Serena Cecchetti , Elisa Coluzzi , Luca Pannone , Cristina Andreoli , Francesca Clementina Radio , Simone Pizzi , Giovanna Carpentieri , Alessandro Bruselles , Giuseppina Catanzaro , Lucia Pedace , Evelina Miele , Elena Carcarino , Xiaoyan Ge , Chieko Chijiwa , M E Suzanne Lewis , Marije Meuwissen , Sandra Kenis , Nathalie Van der Aa , Austin Larson , Kathleen Brown , Melissa P Wasserstein , Brian G Skotko , Amber Begtrup , Richard Person , Maria Karayiorgou , J Louw Roos , Koen L Van Gassen , Marije Koopmans , Emilia K Bijlsma , Gijs W E Santen , Daniela Q C M Barge-Schaapveld , Claudia A L Ruivenkamp , Mariette J V Hoffer , Seema R Lalani , Haley Streff , William J Craigen , Brett H Graham , Annette P M van den Elzen , Daan J Kamphuis , Katrin Õunap , Karit Reinson , Sander Pajusalu , Monica H Wojcik , Clara Viberti , Cornelia Di Gaetano , Enrico Bertini , Simona Petrucci , Alessandro De Luca , Rossella Rota , Elisabetta Ferretti , Giuseppe Matullo , Bruno Dallapiccola , Antonella Sgura , Magdalena Walkiewicz , R Frank Kooy , Marco Tartaglia

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

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).

Blood cells, molecules & diseases
Avec: Dirk Roos , Karin van Leeuwen , Amy P Hsu , Debra Long Priel , Amber Begtrup , Rhonda Brandon , Amit Rawat , Pandiarajan Vignesh , Manesha Madkaikar , Marie José Stasia , Faris Ghalib Bakri , Martin de Boer , Joachim Roesler , Nezihe Köker , M Yavuz Köker , Marianne Jakobsen , Jacinta Bustamante , Maria Bravo Garcia-Morato , Juan Luis Valdivieso Shephard , Deniz Cagdas , Ilhan Tezcan , Roya Sherkat , Esmaeil Mortaz , Abbas Fayezi , Mohammad Shahrooei , Baruch Wolach , Lizbeth Blancas-Galicia , Hirokazu Kanegane , Toshinao Kawai , Antonio Condino-Neto , Mauno Vihinen , Christa S Zerbe , Steven M Holland , Harry L Malech , John I Gallin , Douglas B Kuhns

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

American journal of human genetics
Avec: Hui Guo , Qiumeng Zhang , Rujia Dai , Bin Yu , Kendra Hoekzema , Jieqiong Tan , Senwei Tan , Xiangbin Jia , Wendy K Chung , Rebecca Hernan , Fowzan S Alkuraya , Ahood Alsulaiman , Mohammad A Al-Muhaizea , Gaetan Lesca , Linda Pons , Audrey Labalme , Linda Laux , Emily Bryant , Natasha J Brown , Elena Savva , Samantha Ayres , Dhamidhu Eratne , Hilde Peeters , Frédéric Bilan , Lucile Letienne-Cejudo , Brigitte Gilbert-Dussardier , Inge-Lore Ruiz-Arana , Jenny Meylan Merlini , Alexia Boizot , Lucia Bartoloni , Federico Santoni , Danielle Karlowicz , Marie McDonald , Huidan Wu , Zhengmao Hu , Guodong Chen , Jianjun Ou , Charlotte Brasch-Andersen , Christina R Fagerberg , Inken Dreyer , Anne Chun-Hui Tsai , Valerie Slegesky , Rose B McGee , Brina Daniels , Elizabeth A Sellars , Lori A Carpenter , Bradley Schaefer , Maria J Guillen Sacoto , Amber Begtrup , Rhonda E Schnur , Sumit Punj , Ingrid M Wentzensen , Lindsay Rhodes , Qian Pan , Raphael A Bernier , Chao Chen , Evan E Eichler , Kun Xia

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Nature communications
Avec: Sukhleen Kour , Deepa S Rajan , Tyler R Fortuna , Eric N Anderson , Caroline Ward , Youngha Lee , Sangmoon Lee , Yong Beom Shin , Jong-Hee Chae , Murim Choi , Karine Siquier , Vincent Cantagrel , Jeanne Amiel , Elliot S Stolerman , Sarah S Barnett , Margot A Cousin , Diana Castro , Kimberly McDonald , Brian Kirmse , Andrea H Nemeth , Dhivyaa Rajasundaram , A Micheil Innes , Danielle Lynch , Patrick Frosk , Abigail Collins , Melissa Gibbons , Michele Yang , Isabelle Desguerre , Nathalie Boddaert , Cyril Gitiaux , Siri Lynne Rydning , Kaja K Selmer , Roser Urreizti , Alberto Garcia-Oguiza , Andrés Nascimento Osorio , Edgard Verdura , Aurora Pujol , Hannah R McCurry , John E Landers , Sameer Agnihotri , E Corina Andriescu , Shade B Moody , Chanika Phornphutkul , Maria J Guillen Sacoto , Amber Begtrup , Henry Houlden , Janbernd Kirschner , David Schorling , Sabine Rudnik-Schöneborn , Tim M Strom , Steffen Leiz , Kali Juliette , Randal Richardson , Ying Yang , Yuehua Zhang , Minghui Wang , Jia Wang , Xiaodong Wang , Konrad Platzer , Sandra Donkervoort , Carsten G Bönnemann , Matias Wagner , Mahmoud Y Issa , Hasnaa M Elbendary , Valentina Stanley , Reza Maroofian , Joseph G Gleeson , Maha S Zaki , Jan Senderek , Udai Bhan Pandey

Deep-Phenotyping the Less Severe Spectrum of

Frontiers in genetics
Avec: Allan Bayat , Manuela Pendziwiat , Ewa Obersztyn , Paula Goldenberg , Pia Zacher , Jan Henje Döring , Steffen Syrbe , Amber Begtrup , Artem Borovikov , Artem Sharkov , Aneta Karasińska , Maria Giżewska , Wendy Mitchell , Eva Morava , Rikke S Møller , Guido Rubboli

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

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Brain : a journal of neurology
Avec: Marcello Scala , Masashi Nishikawa , Hidenori Ito , Hidenori Tabata , Tayyaba Khan , Andrea Accogli , Laura Davids , Anna Ruiz , Pietro Chiurazzi , Gabriella Cericola , Björn Schulte , Kristin G Monaghan , Amber Begtrup , Annalaura Torella , Michele Pinelli , Anne Sophie Denommé-Pichon , Antonio Vitobello , Caroline Racine , Maria Margherita Mancardi , Courtney Kiss , Andrea Guerin , Wendy Wu , Elisabeth Gabau Vila , Bryan C Mak , Julian A Martinez-Agosto , Michael B Gorin , Bugrahan Duz , Yavuz Bayram , Claudia M B Carvalho , Jaime E Vengoechea , David Chitayat , Tiong Yang Tan , Bert Callewaert , Bernd Kruse , Lynne M Bird , Laurence Faivre , Marcella Zollino , Saskia Biskup , Auteur inconnu , Auteur inconnu , Pasquale Striano , Vincenzo Nigro , Mariasavina Severino , Valeria Capra , Gregory Costain , Koh Ichi Nagata

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

American journal of human genetics
Avec: Maimuna S Paul , Anna R Duncan , Casie A Genetti , Hongling Pan , Adam Jackson , Patricia E Grant , Jiahai Shi , Michele Pinelli , Nicola Brunetti-Pierri , Alexandra Garza-Flores , Dave Shahani , Russell P Saneto , Giuseppe Zampino , Chiara Leoni , Emanuele Agolini , Antonio Novelli , Ulrike Blümlein , Tobias B Haack , Wolfram Heinritz , Eva Matzker , Bader Alhaddad , Rami Abou Jamra , Tobias Bartolomaeus , Saber AlHamdan , Raphael Carapito , Bertrand Isidor , Seiamak Bahram , Alyssa Ritter , Kosuke Izumi , Ben Pode Shakked , Ortal Barel , Bruria Ben Zeev , Amber Begtrup , Deanna Alexis Carere , Sureni V Mullegama , Timothy Blake Palculict , Daniel G Calame , Katharina Schwan , Alicia R P Aycinena , Rasa Traberg , Auteur inconnu , Sofia Douzgou , Harrison Pirt , Naila Ismayilova , Siddharth Banka , Hsiao-Tuan Chao , Pankaj B Agrawal

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

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

American journal of human genetics
Avec: Lucia V Schottlaender , Rosella Abeti , Zane Jaunmuktane , Carol Macmillan , Viorica Chelban , Benjamin O'Callaghan , John McKinley , Reza Maroofian , Stephanie Efthymiou , Alkyoni Athanasiou-Fragkouli , Raeburn Forbes , Marc P M Soutar , John H Livingston , Bernardett Kalmar , Orlando Swayne , Gary Hotton , Auteur inconnu , Alan Pittman , João Ricardo Mendes de Oliveira , Maria de Grandis , Angela Richard-Loendt , Francesca Launchbury , Juri Althonayan , Gavin McDonnell , Aisling Carr , Suliman Khan , Christian Beetz , Atil Bisgin , Sevcan Tug Bozdogan , Amber Begtrup , Erin Torti , Linda Greensmith , Paola Giunti , Patrick J Morrison , Sebastian Brandner , Michel Aurrand-Lions , Henry Houlden

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 loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.

American journal of human genetics
Avec: Holger Hengel , Shabab B Hannan , Sarah Dyack , Sara B MacKay , Ulrich Schatz , Martin Fleger , Andreas Kurringer , Ghassan Balousha , Zaid Ghanim , Fowzan S Alkuraya , Hamad Alzaidan , Hessa S Alsaif , Tadahiro Mitani , Sevcan Bozdogan , Davut Pehlivan , James R Lupski , Joseph J Gleeson , Mohammadreza Dehghani , Mohammad Y V Mehrjardi , Elliott H Sherr , Kendall C Parks , Emanuela Argilli , Amber Begtrup , Hamid Galehdari , Osama Balousha , Gholamreza Shariati , Neda Mazaheri , Reza A Malamiri , Alistair T Pagnamenta , Helen Kingston , Siddharth Banka , Adam Jackson , Mathew Osmond , Auteur inconnu , Auteur inconnu , Angelika Rieß , Tobias B Haack , Thomas Nägele , Stefanie Schuster , Stefan Hauser , Jakob Admard , Nicolas Casadei , Ana Velic , Boris Macek , Stephan Ossowski , Henry Houlden , Reza Maroofian , Ludger Schöls

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

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

American journal of human genetics
Avec: Ilse Van Gucht , Josephina A N Meester , Jotte Rodrigues Bento , Maaike Bastiaansen , Jarl Bastianen , Ilse Luyckx , Lotte Van Den Heuvel , Cédric H G Neutel , Pieter-Jan Guns , Mandy Vermont , Erik Fransen , Melanie H A M Perik , Joe Davis Velchev , Maaike Alaerts , Dorien Schepers , Silke Peeters , Isabel Pintelon , Abdulrahman Almesned , Matteo P Ferla , Jenny C Taylor , Anthony R Dallosso , Maggie Williams , Julie Evans , Auteur inconnu , Jill A Rosenfeld , Thierry Sluysmans , Desiderio Rodrigues , Ashish Chikermane , Gangadhara Bharmappanavara , Kayal Vijayakumar , Hassan Mottaghi Moghaddam Shahri , Narges Hashemi , Paria Najarzadeh Torbati , Mehran B Toosi , Zuhair N Al-Hassnan , Julie Vogt , Nicole Revencu , Isabelle Maystadt , Erin M Miller , K Nicole Weaver , Amber Begtrup , Henry Houlden , David Murphy , Reza Maroofian , Alistair T Pagnamenta , Lut Van Laer , Bart L Loeys , Aline Verstraeten

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

American journal of medical genetics. Part A
Avec: Lauren O'Grady , Samantha A Schrier Vergano , Trevor L Hoffman , Dean Sarco , Sara Cherny , Emily Bryant , Laura Schultz-Rogers , Wendy K Chung , Stephanie Sacharow , Ladonna L Immken , Susan Holder , Rebecca R Blackwell , Catherine Buchanan , Roman Yusupov , François Lecoquierre , Anne-Marie Guerrot , Lance Rodan , Bert B A de Vries , Erik Jan Kamsteeg , Fernando Santos Simarro , Maria Palomares-Bralo , Natasha Brown , Lynn Pais , Alejandro Ferrer , Eric W Klee , Dusica Babovic-Vuksanovic , Lindsay Rhodes , Richard Person , Amber Begtrup , Jennifer Keller-Ramey , Teresa Santiago-Sim , Rhonda E Schnur , David A Sweetser , Nina B Gold

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.

Nature genetics
Avec: Janina Sörmann , Marcus Schewe , Peter Proks , Thibault Jouen-Tachoire , Shanlin Rao , Elena B Riel , Katherine E Agre , Amber Begtrup , John Dean , Maria Descartes , Jan Fischer , Alice Gardham , Carrie Lahner , Paul R Mark , Srikanth Muppidi , Pavel N Pichurin , Joseph Porrmann , Jens Schallner , Kirstin Smith , Volker Straub , Pradeep Vasudevan , Rebecca Willaert , Elisabeth P Carpenter , Karin E J Rödström , Michael G Hahn , Thomas Müller , Thomas Baukrowitz , Matthew E Hurles , Caroline F Wright , Stephen J Tucker

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Elisa Cali , Mohnish Suri , Marcello Scala , Matteo P Ferla , Shahryar Alavi , Eissa Ali Faqeih , Emilia K Bijlsma , Kristen M Wigby , Diana Baralle , Mohammad Y V Mehrjardi , Jennifer Schwab , Konrad Platzer , Katharina Steindl , Mais Hashem , Marilyn Jones , Dmitriy M Niyazov , Jennifer Jacober , Rebecca Okashah Littlejohn , Denisa Weis , Neda Zadeh , Lance Rodan , Alice Goldenberg , François Lecoquierre , Marina Dutra-Clarke , Gabriella Horvath , Dana Young , Naama Orenstein , Shahad Bawazeer , Anneke T Vulto-van Silfhout , Yvan Herenger , Mohammadreza Dehghani , Seyed Mohammad Seyedhassani , Amir Bahreini , Mahya E Nasab , A Gulhan Ercan-Sencicek , Zahra Firoozfar , Mojtaba Movahedinia , Stephanie Efthymiou , Pasquale Striano , Ehsan Ghayoor Karimiani , Vincenzo Salpietro , Jenny C Taylor , Melody Redman , Alexander P A Stegmann , Andreas Laner , Ghada Abdel-Salam , Megan Li , Mario Bengala , Amelie Johanna Müller , Maria C Digilio , Anita Rauch , Murat Gunel , Hannah Titheradge , Daniela N Schweitzer , Alison Kraus , Irene Valenzuela , Scott D McLean , Chanika Phornphutkul , Mustafa Salih , Amber Begtrup , Rhonda E Schnur , Erin Torti , Tobias B Haack , Carlos E Prada , Fowzan S Alkuraya , Henry Houlden , Reza Maroofian

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

A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Heidi L Cope , Laura V Milko , Elizabeth R Jalazo , Blythe G Crissman , Ann Katherine M Foreman , Bradford C Powell , Neal A deJong , Jessica Ezzell Hunter , Beth Lincoln Boyea , Ana N Forsythe , Anne C Wheeler , Rebekah S Zimmerman , Sharon F Suchy , Amber Begtrup , Katherine G Langley , Kristin G Monaghan , Christina Kraczkowski , Kathleen S Hruska , Paul Kruszka , Katerina S Kucera , Jonathan S Berg , Cynthia M Powell , Holly L Peay

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Daniel G Calame , Jovi Huixin Wong , Puravi Panda , Dat Tuan Nguyen , Nancy C P Leong , Riccardo Sangermano , Sohil G Patankar , Mohamed S Abdel-Hamid , Lama AlAbdi , Sylvia Safwat , Kyle P Flannery , Zain Dardas , Jawid M Fatih , Chaya Murali , Varun Kannan , Timothy E Lotze , Isabella Herman , Farah Ammouri , Brianna Rezich , Stephanie Efthymiou , Shahryar Alavi , David Murphy , Zahra Firoozfar , Mahya Ebrahimi Nasab , Amir Bahreini , Majid Ghasemi , Nourelhoda A Haridy , Hamid Reza Goldouzi , Fatemeh Eghbal , Ehsan Ghayoor Karimiani , Amber Begtrup , Houda Elloumi , Varunvenkat M Srinivasan , Vykuntaraju K Gowda , Haowei Du , Shalini N Jhangiani , Zeynep Coban-Akdemir , Dana Marafi , Lance Rodan , Sedat Isikay , Jill A Rosenfeld , Subhadra Ramanathan , Michael Staton , Kerby C Oberg , Robin D Clark , Catharina Wenman , Sam Loughlin , Ramy Saad , Tazeen Ashraf , Alison Male , Shereen Tadros , Reza Boostani , Ghada M H Abdel-Salam , Maha Zaki , Ali Mardi , Farzad Hashemi-Gorji , Ebtesam Abdalla , M Chiara Manzini , Davut Pehlivan , Jennifer E Posey , Richard A Gibbs , Henry Houlden , Fowzan S Alkuraya , Kinga Bujakowska , Reza Maroofian , James R Lupski , Long Nam Nguyen

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Molecular psychiatry
Avec: Senwei Tan , Qiumeng Zhang , Rui Zhan , Si Luo , Yaoling Han , Bin Yu , Candace Muss , Veronique Pingault , Sandrine Marlin , Andrée Delahaye , Sophia Peters , Claudia Perne , Martina Kreiß , Nino Spataro , Juan Pablo Trujillo-Quintero , Caroline Racine , Frederic Tran-Mau-Them , Chanika Phornphutkul , Aaron D Besterman , Julian Martinez , Xiuxia Wang , Xiaoyu Tian , Siddharth Srivastava , David K Urion , Jill A Madden , Hind Al Saif , Michelle M Morrow , Amber Begtrup , Xing Li , Sarah Jurgensmeyer , Peter Leahy , Shimin Zhou , Faxiang Li , Zhengmao Hu , Jieqiong Tan , Kun Xia , Hui Guo

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

American journal of human genetics
Avec: Dara Tolchin , Jessica P Yeager , Priya Prasad , Naghmeh Dorrani , Alvaro Serrano Russi , Julian A Martinez-Agosto , Abdul Haseeb , Marco Angelozzi , G W E Santen , Claudia Ruivenkamp , Saadet Mercimek-Andrews , Christel Depienne , Alma Kuechler , Barbara Mikat , Hermann-Josef Ludecke , Frederic Bilan , Gwenael Le Guyader , Brigitte Gilbert-Dussardier , Boris Keren , Solveig Heide , Damien Haye , Hilde Van Esch , Liesbeth Keldermans , Damara Ortiz , Emily Lancaster , Ian D Krantz , Bryan L Krock , Kieran B Pechter , Alexandre Arkader , Livija Medne , Elizabeth T DeChene , Eduardo Calpena , Giada Melistaccio , Andrew O M Wilkie , Mohnish Suri , Nicola Foulds , Auteur inconnu , Amber Begtrup , Lindsay B Henderson , Cara Forster , Patrick Reed , Marie T McDonald , Allyn McConkie-Rosell , Julien Thevenon , Pauline Le Tanno , Charles Coutton , Anne C H Tsai , Sarah Stewart , Ales Maver , Rudolf Gorazd , Olivier Pichon , Mathilde Nizon , Benjamin Cogné , Bertrand Isidor , Dominique Martin-Coignard , Radka Stoeva , Véronique Lefebvre , Cédric Le Caignec

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.

European journal of human genetics : EJHG
Avec: Volkan Okur , Megan T Cho , Richard van Wijk , Brigitte van Oirschot , Jonathan Picker , Stephanie A Coury , Dorothy Grange , Linda Manwaring , Ian Krantz , Colleen Clark Muraresku , Peter J Hulick , Holley May , Eric Pierce , Emily Place , Kinga Bujakowska , Aida Telegrafi , Ganka Douglas , Kristin G Monaghan , Amber Begtrup , Ashley Wilson , Kyle Retterer , Kwame Anyane-Yeboa , Wendy K Chung

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

American journal of human genetics
Avec: Elizabeth E Palmer , Seungbeom Hong , Fatema Al Zahrani , Mais O Hashem , Fajr A Aleisa , Heba M Jalal Ahmed , Tejaswi Kandula , Rebecca Macintosh , Andre E Minoche , Clare Puttick , Velimir Gayevskiy , Alexander P Drew , Mark J Cowley , Marcel Dinger , Jill A Rosenfeld , Rui Xiao , Megan T Cho , Suliat F Yakubu , Lindsay B Henderson , Maria J Guillen Sacoto , Amber Begtrup , Muddathir Hamad , Marwan Shinawi , Marisa V Andrews , Marilyn C Jones , Kristin Lindstrom , Ruth E Bristol , Saima Kayani , Molly Snyder , María Mercedes Villanueva , Angeles Schteinschnaider , Laurence Faivre , Christel Thauvin , Antonio Vitobello , Tony Roscioli , Edwin P Kirk , Ann Bye , Jasmeen Merzaban , Łukasz Jaremko , Mariusz Jaremko , Rani K Sachdev , Fowzan S Alkuraya , Stefan T Arold

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Human mutation
Avec: Hanyin Cheng , Simona Capponi , Emma Wakeling , Elaine Marchi , Quan Li , Mengge Zhao , Chunhua Weng , Piatek G Stefan , Helena Ahlfors , Robert Kleyner , Alan Rope , Aimé Lumaka , Prosper Lukusa , Koenraad Devriendt , Joris Vermeesch , Jennifer E Posey , Elizabeth E Palmer , Lucinda Murray , Eyby Leon , Jullianne Diaz , Lisa Worgan , Amalia Mallawaarachchi , Julie Vogt , Sonja A de Munnik , Lauren Dreyer , Gareth Baynam , Lisa Ewans , Zornitza Stark , Sebastian Lunke , Ana R Gonçalves , Gabriela Soares , Jorge Oliveira , Emily Fassi , Marcia Willing , Jeff L Waugh , Laurence Faivre , Jean-Baptiste Riviere , Sebastien Moutton , Shehla Mohammed , Katelyn Payne , Laurence Walsh , Amber Begtrup , Maria J Guillen Sacoto , Ganka Douglas , Nora Alexander , Michael F Buckley , Paul R Mark , Lesley C Adès , Sarah A Sandaradura , James R Lupski , Tony Roscioli , Pankaj B Agrawal , Antonie D Kline , Auteur inconnu , Kai Wang , H T Marc Timmers , Gholson J Lyon

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ange-Line Bruel , Antonio Vitobello , Frédéric Tran Mau-Them , Sophie Nambot , Yannis Duffourd , Virginie Quéré , Paul Kuentz , Philippine Garret , Julien Thevenon , Sébastien Moutton , Daphné Lehalle , Nolwenn Jean-Marçais , Auteur inconnu , Aurore Garde , Julian Delanne , Mathilde Lefebvre , François Lecoquierre , Detlef Trost , Megan Cho , Amber Begtrup , Aida Telegrafi , Pierre Vabres , Anne-Laure Mosca-Boidron , Patrick Callier , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta neuropathologica
Avec: Elena Perenthaler , Anita Nikoncuk , Soheil Yousefi , Woutje M Berdowski , Maysoon Alsagob , Ivan Capo , Herma C van der Linde , Paul van den Berg , Edwin H Jacobs , Darija Putar , Mehrnaz Ghazvini , Eleonora Aronica , Wilfred F J van IJcken , Walter G de Valk , Evita Medici-van den Herik , Marjon van Slegtenhorst , Lauren Brick , Mariya Kozenko , Jennefer N Kohler , Jonathan A Bernstein , Kristin G Monaghan , Amber Begtrup , Rebecca Torene , Amna Al Futaisi , Fathiya Al Murshedi , Renjith Mani , Faisal Al Azri , Erik-Jan Kamsteeg , Majid Mojarrad , Atieh Eslahi , Zaynab Khazaei , Fateme Massinaei Darmiyan , Mohammad Doosti , Ehsan Ghayoor Karimiani , Jana Vandrovcova , Faisal Zafar , Nuzhat Rana , Krishna K Kandaswamy , Jozef Hertecant , Peter Bauer , Mohammed A AlMuhaizea , Mustafa A Salih , Mazhor Aldosary , Rawan Almass , Laila Al-Quait , Wafa Qubbaj , Serdar Coskun , Khaled O Alahmadi , Muddathir H A Hamad , Salem Alwadaee , Khalid Awartani , Anas M Dababo , Futwan Almohanna , Dilek Colak , Mohammadreza Dehghani , Mohammad Yahya Vahidi Mehrjardi , Murat Gunel , A Gulhan Ercan-Sencicek , Gouri Rao Passi , Huma Arshad Cheema , Stephanie Efthymiou , Henry Houlden , Aida M Bertoli-Avella , Alice S Brooks , Kyle Retterer , Reza Maroofian , Namik Kaya , Tjakko J van Ham , Tahsin Stefan Barakat

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 variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Marije Meuwissen , Aline Verstraeten , Emmanuelle Ranza , Justyna Iwaszkiewicz , Maaike Bastiaansen , Ligia Mateiu , Merlijn Nemegeer , Josephina A N Meester , Alexandra Afenjar , Michelle Amaral , Diana Ballhausen , Sarah Barnett , Magalie Barth , Bob Asselbergh , Katrien Spaas , Bavo Heeman , Jennifer Bassetti , Patrick Blackburn , Marie Schaer , Xavier Blanc , Vincent Zoete , Kari Casas , Thomas Courtin , Diane Doummar , Frédéric Guerry , Boris Keren , John Pappas , Rachel Rabin , Amber Begtrup , Marwan Shinawi , Anneke T Vulto-van Silfhout , Tjitske Kleefstra , Matias Wagner , Alban Ziegler , Elise Schaefer , Benedicte Gerard , Charlotte I De Bie , Sjoerd J B Holwerda , Mary Alice Abbot , Stylianos E Antonarakis , Bart Loeys

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Elisa Cali , Tania Quirin , Clarissa Rocca , Stephanie Efthymiou , Antonella Riva , Dana Marafi , Maha S Zaki , Mohnish Suri , Roberto Dominguez , Hasnaa M Elbendary , Shahryar Alavi , Mohamed S Abdel-Hamid , Heba Morsy , Frederic Tran Mau-Them , Mathilde Nizon , Pavel Tesner , Lukáš Ryba , Faisal Zafar , Nuzhat Rana , Nebal W Saadi , Zahra Firoozfar , Pinar Gencpinar , Bulent Unay , Canan Ustun , Ange-Line Bruel , Christine Coubes , Jennifer Stefanich , Ozlem Sezer , Emanuele Agolini , Antonio Novelli , Gessica Vasco , Donatella Lettori , Mathieu Milh , Laurent Villard , Shimriet Zeidler , Henry Opperman , Vincent Strehlow , Mahmoud Y Issa , Hebatallah El Khassab , Prem Chand , Shahnaz Ibrahim , Ali Nejad-Rashidi , Mohammad Miryounesi , Pegah Larki , Jennifer Morrison , Ingrid Cristian , Isabelle Thiffault , Nicole L Bertsch , Grace J Noh , John Pappas , Ellen Moran , Nikolaos M Marinakis , Joanne Traeger-Synodinos , Susan Hosseini , Mohammad Reza Abbaszadegan , Roseline Caumes , Lisenka E L M Vissers , Maedeh Neshatdoust , Mostafa Zohour Montazer , Elmostafa El Fahime , Christin Canavati , Lara Kamal , Moien Kanaan , Omar Askander , Victoria Voinova , Olga Levchenko , Shahzhad Haider , Sara S Halbach , Elias Rayana Maia , Salehi Mansoor , Jain Vivek , Sanjukta Tawde , Viveka Santhosh R Challa , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Lucas Alves Victor , Benito Pinero-Banos , Jennifer Hague , Heba Ahmed Ei-Awady , Adelia Maria de Miranda Henriques-Souza , Huma Arshad Cheema , Muhammad Nadeem Anjum , Sara Idkaidak , Firas Alqarajeh , Osama Atawneh , Hagar Mor-Shaked , Tamar Harel , Giovanni Zifarelli , Peter Bauer , Fernando Kok , Joao Paulo Kitajima , Fabiola Monteiro , Juliana Josahkian , Gaetan Lesca , Nicolas Chatron , Dorothe Ville , David Murphy , Jeffrey L Neul , Sureni V Mullegama , Amber Begtrup , Isabella Herman , Tadahiro Mitani , Jennifer E Posey , Chee Geap Tay , Iram Javed , Lucinda Carr , Farah Kanani , Fiona Beecroft , Lee Hane , Elsayed Abdelkreem , Milan Macek , Luciana Bispo , Marwa Abd Elmaksoud , Farzad Hashemi-Gorji , Davut Pehlivan , David J Amor , Rami Abou Jamra , Wendy K Chung , Eshan Karimiani Ghayoor , Philippe Campeau , Fowzan S Alkuraya , Alistair T Pagnamenta , Joseph Gleeson , James R Lupski , Pasquale Striano , Andres Moreno-De-Luca , Denis L J Lafontaine , Henry Houlden , Reza Maroofian

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nature communications
Avec: Holger Hengel , Célia Bosso-Lefèvre , George Grady , Emmanuelle Szenker-Ravi , Hankun Li , Sarah Pierce , Élise Lebigot , Thong-Teck Tan , Michelle Y Eio , Gunaseelan Narayanan , Kagistia Hana Utami , Monica Yau , Nader Handal , Werner Deigendesch , Reinhard Keimer , Hiyam M Marzouqa , Meral Gunay-Aygun , Michael J Muriello , Helene Verhelst , Sarah Weckhuysen , Sonal Mahida , Sakkubai Naidu , Terrence G Thomas , Jiin Ying Lim , Ee Shien Tan , Damien Haye , Michèl A A P Willemsen , Renske Oegema , Wendy G Mitchell , Tyler Mark Pierson , Marisa V Andrews , Marcia C Willing , Lance H Rodan , Tahsin Stefan Barakat , Marjon van Slegtenhorst , Ralitza H Gavrilova , Diego Martinelli , Tal Gilboa , Abdullah M Tamim , Mais O Hashem , Moeenaldeen D AlSayed , Maha M Abdulrahim , Mohammed Al-Owain , Ali Awaji , Adel A H Mahmoud , Eissa A Faqeih , Ali Al Asmari , Sulwan M Algain , Lamyaa A Jad , Hesham M Aldhalaan , Ingo Helbig , David A Koolen , Angelika Riess , Ingeborg Kraegeloh-Mann , Peter Bauer , Suleyman Gulsuner , Hannah Stamberger , Alvin Yu Jin Ng , Sha Tang , Sumanty Tohari , Boris Keren , Laura E Schultz-Rogers , Eric W Klee , Sabina Barresi , Marco Tartaglia , Hagar Mor-Shaked , Sateesh Maddirevula , Amber Begtrup , Aida Telegrafi , Rolph Pfundt , Rebecca Schüle , Brian Ciruna , Carine Bonnard , Mahmoud A Pouladi , James C Stewart , Adam Claridge-Chang , Dirk J Lefeber , Fowzan S Alkuraya , Ajay S Mathuru , Byrappa Venkatesh , Joseph J Barycki , Melanie A Simpson , Saumya S Jamuar , Ludger Schöls , Bruno Reversade

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

European journal of human genetics : EJHG
Avec: Shereen G Ghosh , Marcello Scala , Christian Beetz , Guy Helman , Valentina Stanley , Xiaoxu Yang , Martin W Breuss , Neda Mazaheri , Laila Selim , Fatemeh Hadipour , Lynn Pais , Chloe A Stutterd , Vasiliki Karageorgou , Amber Begtrup , Amy Crunk , Jane Juusola , Rebecca Willaert , Leigh A Flore , Kelly Kennelly , Christopher Spencer , Martha Brown , Pamela Trapane , Anna C E Hurst , S Lane Rutledge , Dana H Goodloe , Marie T McDonald , Vandana Shashi , Kelly Schoch , Auteur inconnu , Hoda Tomoum , Raghda Zaitoun , Zahra Hadipour , Hamid Galehdari , Alistair T Pagnamenta , Majid Mojarrad , Alireza Sedaghat , Patrícia Dias , Sofia Quintas , Atiyeh Eslahi , Gholamreza Shariati , Peter Bauer , Cas Simons , Henry Houlden , Mahmoud Y Issa , Maha S Zaki , Reza Maroofian , Joseph G Gleeson

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

Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).

Blood cells, molecules & diseases
Avec: Dirk Roos , Karin van Leeuwen , Amy P Hsu , Debra Long Priel , Amber Begtrup , Rhonda Brandon , Marie José Stasia , Faris Ghalib Bakri , Nezihe Köker , M Yavuz Köker , Manisha Madkaika , Martin de Boer , Maria Bravo Garcia-Morato , Juan Luis Valdivieso Shephard , Joachim Roesler , Hirokazu Kanegane , Toshinao Kawai , Gigliola Di Matteo , Mohammad Shahrooei , Jacinta Bustamante , Amit Rawat , Pandiarajan Vignesh , Esmaeil Mortaz , Abbas Fayezi , Deniz Cagdas , Ilhan Tezcan , Maleewan Kitcharoensakkul , Mary C Dinauer , Isabelle Meyts , Baruch Wolach , Antonio Condino-Neto , Christa S Zerbe , Steven M Holland , Harry L Malech , John I Gallin , Douglas B Kuhns

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

American journal of human genetics
Avec: Lindsey D Goodman , Heidi Cope , Zelha Nil , Thomas A Ravenscroft , Wu-Lin Charng , Shenzhao Lu , An-Chi Tien , Rolph Pfundt , David A Koolen , Charlotte A Haaxma , Hermine E Veenstra-Knol , Jolien S Klein Wassink-Ruiter , Marijke R Wevers , Melissa Jones , Laurence E Walsh , Victoria H Klee , Miel Theunis , Eric Legius , Dora Steel , Katy E S Barwick , Manju A Kurian , Shekeeb S Mohammad , Russell C Dale , Paulien A Terhal , Ellen van Binsbergen , Brian Kirmse , Bethany Robinette , Benjamin Cogné , Bertrand Isidor , Theresa A Grebe , Peggy Kulch , Bryan E Hainline , Katherine Sapp , Eva Morava , Eric W Klee , Erica L Macke , Pamela Trapane , Christopher Spencer , Yue Si , Amber Begtrup , Matthew J Moulton , Debdeep Dutta , Oguz Kanca , Auteur inconnu , Michael F Wangler , Shinya Yamamoto , Hugo J Bellen , Queenie K-G Tan

Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.

American journal of medical genetics. Part A
Avec: Franziska Roessler , Anita E Beck , Ball Susie , Bartolomaeus Tobias , Amber Begtrup , Saskia Biskup , Oana Caluseriu , Norman Delanty , Christine Fröhlich , Marie T Greally , Maike Karnstedt , Chiara Klöckner , Joanne Kurtzberg , Susanna Schubert , Martin Schulze , Michael Weidenbach , Dominik S Westphal , Maire White , Cordula M Wolf , Jacob Zyskind , Bernt Popp , Vincent Strehlow

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

American journal of human genetics
Avec: Kelly Smallwood , Kristin E N Watt , Satoru Ide , Kristina Baltrunaite , Chad Brunswick , Katherine Inskeep , Corrine Capannari , Margaret P Adam , Amber Begtrup , Debora R Bertola , Laurie Demmer , Erin Demo , Orrin Devinsky , Emily R Gallagher , Maria J Guillen Sacoto , Robert Jech , Boris Keren , Jennifer Kussmann , Roger Ladda , Lisa A Lansdon , Sebastian Lunke , Anne Mardy , Kirsty McWalters , Richard Person , Laura Raiti , Noriko Saitoh , Carol J Saunders , Rhonda Schnur , Matej Skorvanek , Susan L Sell , Anne Slavotinek , Bonnie R Sullivan , Zornitza Stark , Joseph D Symonds , Tara Wenger , Sacha Weber , Sandra Whalen , Susan M White , Juliane Winkelmann , Michael Zech , Shimriet Zeidler , Kazuhiro Maeshima , Rolf W Stottmann , Paul A Trainor , K Nicole Weaver

Réseau de co-auteurs

None None 19 collaborations
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