Isabelle Thiffault

Affiliations
  • Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
ORCID: https://orcid.org/0000-0001-7987-6731

Publications (76)

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.

American journal of medical genetics. Part A
Avec: Johanna L Schmidt , Amy Pizzino , Jessica Nicholl , Allison Foley , Yue Wang , Jill A Rosenfeld , Lindsey Mighion , Lora Bean , Cristina da Silva , Megan T Cho , Rebecca Truty , John Garcia , Virginia Speare , Kirsten Blanco , Zoe Powis , Grace M Hobson , Susan Kirwin , Bryan Krock , Hane Lee , Joshua L Deignan , Maggie A Westemeyer , Ryan L Subaran , Ellen A Tsai , Terry Fang , Guy Helman , Adeline Vanderver

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 , Bert Callewaert , Philippe M Campeau , Xiang-Jiao Yang

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Acta neuropathologica
Avec: S Donkervoort , R Sabouny , P Yun , L Gauquelin , K R Chao , Y Hu , I Al Khatib , A Töpf , P Mohassel , B B Cummings , R Kaur , D Saade , S A Moore , L B Waddell , M A Farrar , J K Goodrich , P Uapinyoying , S H S Chan , A Javed , M E Leach , P Karachunski , J Dalton , L Medne , A Harper , C Thompson , I Thiffault , S Specht , R E Lamont , C Saunders , H Racher , F P Bernier , D Mowat , N Witting , J Vissing , R Hanson , K A Coffman , M Hainlen , J S Parboosingh , A Carnevale , G Yoon , R E Schnur , Auteur inconnu , K M Boycott , J K Mah , V Straub , A Reghan Foley , A M Innes , C G Bönnemann , T E Shutt

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

American journal of human genetics
Avec: Scott Barish , Tahsin Stefan Barakat , Brittany C Michel , Nazar Mashtalir , Jennifer B Phillips , Alfredo M Valencia , Berrak Ugur , Jeremy Wegner , Tiana M Scott , Brett Bostwick , Auteur inconnu , David R Murdock , Hongzheng Dai , Elena Perenthaler , Anita Nikoncuk , Marjon van Slegtenhorst , Alice S Brooks , Boris Keren , Caroline Nava , Cyril Mignot , Jessica Douglas , Lance Rodan , Catherine Nowak , Sian Ellard , Karen Stals , Sally Ann Lynch , Marie Faoucher , Gaetan Lesca , Patrick Edery , Kendra L Engleman , Dihong Zhou , John Herriges , Jennifer Gass , Raymond J Louie , Elliot Stolerman , Camerun Washington , Francesco Vetrini , Aiko Otsubo , Victoria M Pratt , Erin Conboy , Kayla Treat , Nora Shannon , Jose Camacho , Emma Wakeling , Bo Yuan , Chun-An Chen , Jill A Rosenfeld , Monte Westerfield , Michael Wangler , Shinya Yamamoto , Cigall Kadoch , Daryl A Scott , Hugo J Bellen

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine
Avec: Madelyn A Gillentine , Tianyun Wang , Kendra Hoekzema , Jill Rosenfeld , Pengfei Liu , Hui Guo , Chang N Kim , Bert B A De Vries , Lisenka E L M Vissers , Magnus Nordenskjold , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jozef Gecz , Maria Iascone , Anna Cereda , Agnese Scatigno , Silvia Maitz , Ginevra Zanni , Enrico Bertini , Christiane Zweier , Sarah Schuhmann , Antje Wiesener , Micah Pepper , Heena Panjwani , Erin Torti , Farida Abid , Irina Anselm , Siddharth Srivastava , Paldeep Atwal , Carlos A Bacino , Gifty Bhat , Katherine Cobian , Lynne M Bird , Jennifer Friedman , Meredith S Wright , Bert Callewaert , Florence Petit , Sophie Mathieu , Alexandra Afenjar , Celenie K Christensen , Kerry M White , Orly Elpeleg , Itai Berger , Edward J Espineli , Christina Fagerberg , Charlotte Brasch-Andersen , Lars Kjærsgaard Hansen , Timothy Feyma , Susan Hughes , Bonnie Sullivan , Shuang Yan , Kory Keller , Boris Keren , Cyril Mignot , Frank Kooy , Marije Meuwissen , Alice Basinger , Mary Kukolich , Meredith Philips , Lucia Ortega , Margaret Drummond-Borg , Mathilde Lauridsen , Kristina Sorensen , Anna Lehman , Auteur inconnu , Elena Lopez-Rangel , Paul Levy , Davor Lessel , Timothy Lotze , Suneeta Madan-Khetarpal , Jessica Sebastian , Jodie Vento , Divya Vats , L Manace Benman , Shane Mckee , Ghayda M Mirzaa , Candace Muss , John Pappas , Hilde Peeters , Corrado Romano , Maurizio Elia , Ornella Galesi , Marleen E H Simon , Koen L I van Gassen , Kara Simpson , Robert Stratton , Sabeen Syed , Julien Thevenon , Irene Valenzuela Palafoll , Antonio Vitobello , Marie Bournez , Laurence Faivre , Kun Xia , Auteur inconnu , Rachel K Earl , Tomasz Nowakowski , Raphael A Bernier , Evan E Eichler

Pathogenic variants in

Cold Spring Harbor molecular case studies
Avec: Andrea Atherton , Bryce A Heese , Ahmed T Abdelmoity , Kailash Pawar , Emily Farrow , Lee Zellmer , Neil Miller , Sarah Soden , Carol Saunders

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Doris Škorić-Milosavljević , Najim Lahrouchi , Fernanda M Bosada , Gregor Dombrowsky , Simon G Williams , Robert Lesurf , Fleur V Y Tjong , Roddy Walsh , Ihssane El Bouchikhi , Jeroen Breckpot , Enrique Audain , Aho Ilgun , Leander Beekman , Ilham Ratbi , Alanna Strong , Maximilian Muenke , Solveig Heide , Alison M Muir , Mariam Hababa , Laura Cross , Dihong Zhou , Tomi Pastinen , Auteur inconnu , Elaine Zackai , Samir Atmani , Karim Ouldim , Najlae Adadi , Katharina Steindl , Anita Rauch , David Brook , Anna Wilsdon , Irene Kuipers , Nico A Blom , Barbara J Mulder , Heather C Mefford , Boris Keren , Pascal Joset , Paul Kruszka , Sarah E Sheppard , Amy Roberts , Elisabeth M Lodder , Bernard D Keavney , Sally-Ann B Clur , Seema Mital , Marc-Philip Hitz , Vincent M Christoffels , Alex V Postma , Connie R Bezzina

Expanded phenotype of AARS1-related white matter disease.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Guy Helman , Marisa I Mendes , Francesco Nicita , Lama Darbelli , Omar Sherbini , Travis Moore , Alexa Derksen , Amy Pizzino , Rosalba Carrozzo , Alessandra Torraco , Michela Catteruccia , Chiara Aiello , Paola Goffrini , Sonia Figuccia , Desiree E C Smith , Kinga Hadzsiev , Andreas Hahn , Saskia Biskup , Ines Brösse , Urania Kotzaeridou , Darja Gauck , Theresa A Grebe , Frances Elmslie , Karen Stals , Rajat Gupta , Enrico Bertini , Ryan J Taft , Raphael Schiffmann , Ulrich Brandl , Tobias B Haack , Gajja S Salomons , Cas Simons , Geneviève Bernard , Marjo S van der Knaap , Adeline Vanderver , Ralf A Husain

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

Brain : a journal of neurology
Avec: Matthew N Bainbridge , Aloran Mazumder , Daisuke Ogasawara , Rami Abou Jamra , Geneviève Bernard , Enrico Bertini , Lydie Burglen , Heidi Cope , Ali Crawford , Alexa Derksen , Leon Dure , Emily Gantz , Margarete Koch-Hogrebe , Anna C E Hurst , Sonal Mahida , Paige Marshall , Alessia Micalizzi , Antonio Novelli , Hongfan Peng , Auteur inconnu , Diana Rodriguez , Shira L Robbins , S Lane Rutledge , Roberta Scalise , Sophia Schließke , Vandana Shashi , Siddharth Srivastava , Isabella Thiffault , Sarah Topol , Auteur inconnu , Leila Qebibo , Dagmar Wieczorek , Benjamin Cravatt , Svasti Haricharan , Ali Torkamani , Jennifer Friedman

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in

Journal of medical genetics
Avec: Amytice Mirchi , Simon-Pierre Guay , Luan T Tran , Nicole I Wolf , Adeline Vanderver , Bernard Brais , Michel Sylvain , Daniela Pohl , Elsa Rossignol , Michael Saito , Sebastien Moutton , Luis González-Gutiérrez-Solana , Michael C Kruer , Dolores Gonzales Moron , Marcelo Kauffman , Cyril Goizet , László Sztriha , Emma Glamuzina , Serge B Melançon , Sakkubai Naidu , Jean-Marc Retrouvey , Suzanne Lacombe , Beatriz Bernardino-Cuesta , Isabelle De Bie , Geneviève Bernard

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

American journal of human genetics
Avec: Susan M Hiatt , Slavica Trajkova , Matteo Rossi Sebastiano , E Christopher Partridge , Fatima E Abidi , Ashlyn Anderson , Muhammad Ansar , Stylianos E Antonarakis , Azadeh Azadi , Ruxandra Bachmann-Gagescu , Andrea Bartuli , Caroline Benech , Jennifer L Berkowitz , Michael J Betti , Alfredo Brusco , Ashley Cannon , Giulia Caron , Yanmin Chen , Meagan E Cochran , Tanner F Coleman , Molly M Crenshaw , Laurence Cuisset , Cynthia J Curry , Hossein Darvish , Serwet Demirdas , Maria Descartes , Jessica Douglas , David A Dyment , Houda Zghal Elloumi , Giuseppe Ermondi , Marie Faoucher , Emily G Farrow , Stephanie A Felker , Heather Fisher , Anna C E Hurst , Pascal Joset , Melissa A Kelly , Stanislav Kmoch , Benjamin R Leadem , Michael J Lyons , Marina Macchiaiolo , Martin Magner , Giorgia Mandrile , Francesca Mattioli , Megan McEown , Sarah K Meadows , Livija Medne , Naomi J L Meeks , Sarah Montgomery , Melanie P Napier , Marvin Natowicz , Kimberly M Newberry , Marcello Niceta , Lenka Noskova , Catherine B Nowak , Amanda G Noyes , Matthew Osmond , Eloise J Prijoles , Jada Pugh , Verdiana Pullano , Chloé Quélin , Simin Rahimi-Aliabadi , Anita Rauch , Sylvia Redon , Alexandre Reymond , Caitlin R Schwager , Elizabeth A Sellars , Angela E Scheuerle , Elena Shukarova-Angelovska , Cara Skraban , Elliot Stolerman , Bonnie R Sullivan , Marco Tartaglia , Kevin Uguen , Luis A Umaña , Yolande van Bever , Saskia N van der Crabben , Marjon A van Slegtenhorst , Quinten Waisfisz , Camerun Washington , Lance H Rodan , Richard M Myers , Gregory M Cooper

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Pediatric neurology
Avec: Maria Carla Borroto , Heena Patel , Siddharth Srivastava , Lindsay C Swanson , Boris Keren , Sandra Whalen , Cyril Mignot , Xiaodong Wang , Qian Chen , Jill A Rosenfeld , Scott McLean , Rebecca O Littlejohn , Auteur inconnu , Lisa Emrick , Lindsay C Burrage , Ruben Attali , Gaetan Lesca , Cecile Acquaviva-Bourdain , Catherine Sarret , Laurie H Seaver , Konrad Platzer , Tobias Bartolomaeus , Cornelia Wünsch , Susann Fischer , Ana Maria Rodriguez Barreto , Jorge L Granadillo , Elisabeth Schreiner , Theresa Brunet , Ulrich A Schatz , Sureni V Mullegama , Jacques L Michaud , Fadi F Hamdan , Elsa Rossignol , Philippe M Campeau

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 , 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

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic

Neurology. Genetics
Avec: Laurence Gauquelin , Ferdy K Cayami , László Sztriha , Grace Yoon , Luan T Tran , Kether Guerrero , François Hocke , Rosalina M L van Spaendonk , Eva L Fung , Stefano D'Arrigo , Gessica Vasco , Dmitriy M Niyazov , Richard Person , Kara Stuart Lewis , Evangeline Wassmer , Trine Prescott , Penny Fallon , Meriel McEntagart , Julia Rankin , Richard Webster , Heike Philippi , Bart van de Warrenburg , Dagmar Timmann , Abhijit Dixit , Claire Searle , Auteur inconnu , Nivedita Thakur , Michael C Kruer , Suvasini Sharma , Adeline Vanderver , Davide Tonduti , Marjo S van der Knaap , Enrico Bertini , Cyril Goizet , Sébastien Fribourg , Nicole I Wolf , Geneviève Bernard

MAGEL2-related disorders: A study and case series.

Clinical genetics
Avec: Jameson Patak , James Gilfert , Melissa Byler , Vamsee Neerukonda , Laura Cross , Shivarajan Amudhavalli , Marta Pacio-Miguez , Maria Palomares-Bralo , Sixto Garcia-Minaur , Fernando Santos-Simarro , Zoe Powis , Wendy Alcaraz , Sha Tang , Julie Jurgens , Brenda Barry , Eleina England , Elizabeth Engle , Jonathon Hess , Robert R Lebel

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.

Journal of child neurology
Avec: Andrea Accogli , Kether Guerrero , Maria Daniela D'Agostino , Luan Tran , Cécile Cieuta-Walti , Sébastien Chénier , Jeremy Schwartzentruber , Jacek Majewski , Auteur inconnu , Geneviève Bernard

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

American journal of human genetics
Avec: Dervla M Connaughton , Rufeng Dai , Danielle J Owen , Jonathan Marquez , Nina Mann , Adda L Graham-Paquin , Makiko Nakayama , Etienne Coyaud , Estelle M N Laurent , Jonathan R St-Germain , Lot Snijders Blok , Arianna Vino , Verena Klämbt , Konstantin Deutsch , Chen-Han Wilfred Wu , Caroline M Kolvenbach , Franziska Kause , Isabel Ottlewski , Ronen Schneider , Thomas M Kitzler , Amar J Majmundar , Florian Buerger , Ana C Onuchic-Whitford , Mao Youying , Amy Kolb , Daanya Salmanullah , Evan Chen , Amelie T van der Ven , Jia Rao , Hadas Ityel , Steve Seltzsam , Johanna M Rieke , Jing Chen , Asaf Vivante , Daw-Yang Hwang , Stefan Kohl , Gabriel C Dworschak , Tobias Hermle , Mariëlle Alders , Tobias Bartolomaeus , Stuart B Bauer , Michelle A Baum , Eva H Brilstra , Thomas D Challman , Jacob Zyskind , Carrie E Costin , Katrina M Dipple , Floor A Duijkers , Marcia Ferguson , David R Fitzpatrick , Roger Fick , Ian A Glass , Peter J Hulick , Antonie D Kline , Ilona Krey , Selvin Kumar , Weining Lu , Elysa J Marco , Ingrid M Wentzensen , Heather C Mefford , Konrad Platzer , Inna S Povolotskaya , Juliann M Savatt , Natalia V Shcherbakova , Prabha Senguttuvan , Audrey E Squire , Deborah R Stein , Victoria Y Voinova , Michael J G Somers , Michael A Ferguson , Avram Z Traum , Ghaleb H Daouk , Ankana Daga , Nancy M Rodig , Paulien A Terhal , Ellen van Binsbergen , Loai A Eid , Velibor Tasic , Hila Milo Rasouly , Tze Y Lim , Dina F Ahram , Ali G Gharavi , Heiko M Reutter , Heidi L Rehm , Daniel G MacArthur , Monkol Lek , Kristen M Laricchia , Richard P Lifton , Hong Xu , Shrikant M Mane , Simone Sanna-Cherchi , Andrew D Sharrocks , Brian Raught , Simon E Fisher , Maxime Bouchard , Mustafa K Khokha , Shirlee Shril , Friedhelm Hildebrandt

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.

Neurogenetics
Avec: Julia Macintosh , Alexa Derksen , Chantal Poulin , Nancy Braverman , Adeline Vanderver , Steffen Albrecht , Geneviève Bernard

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

American journal of human genetics
Avec: Federico Tessadori , Karen Duran , Karen Knapp , Matthias Fellner , Auteur inconnu , Sarah Smithson , Ana Beleza Meireles , Mariet W Elting , Quinten Waisfisz , Anne O'Donnell-Luria , Catherine Nowak , Jessica Douglas , Anne Ronan , Theresa Brunet , Urania Kotzaeridou , Shayna Svihovec , Margarita S Saenz , Florencia Del Viso , Patrick Devine , Shannon Rego , Jessica Tenney , Arie van Haeringen , Claudia A L Ruivenkamp , Saskia Koene , Stephen P Robertson , Charulata Deshpande , Rolph Pfundt , Nienke Verbeek , Jiddeke M van de Kamp , Janneke M M Weiss , Anna Ruiz , Elisabeth Gabau , Ehud Banne , Alexander Pepler , Armand Bottani , Sacha Laurent , Michel Guipponi , Emilia Bijlsma , Ange-Line Bruel , Arthur Sorlin , Mary Willis , Zoe Powis , Thomas Smol , Catherine Vincent-Delorme , Diana Baralle , Estelle Colin , Nicole Revencu , Eduardo Calpena , Andrew O M Wilkie , Maya Chopra , Valerie Cormier-Daire , Boris Keren , Alexandra Afenjar , Marcello Niceta , Alessandra Terracciano , Nicola Specchio , Marco Tartaglia , Marlene Rio , Giulia Barcia , Sophie Rondeau , Cindy Colson , Jeroen Bakkers , Peter D Mace , Louise S Bicknell , Gijs van Haaften

X-linked variations in

Journal of medical genetics
Avec: Caroline M Kolvenbach , Tim Felger , Luca Schierbaum , Tomi Pastinen , Maria Szczepańska , Marcin Zaniew , Piotr Adamczyk , Allan Bayat , Öznur Yilmaz , Tobias T Lindenberg , Holger Thiele , Friedhelm Hildebrandt , Katrin Hinderhofer , Ute Moog , Alina C Hilger , Bonnie Sullivan , Lauren Bartik , Piotr Gnyś , Phillip Grote , Benjamin Odermatt , Heiko M Reutter , Gabriel C Dworschak

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Brain : a journal of neurology
Avec: Daniel G Calame , Cristina Moreno Vadillo , Seth Berger , Timothy Lotze , Marwan Shinawi , Javaher Poupak , Corina Heller , Julie Cohen , Richard Person , Aida Telegrafi , Chalongchai Phitsanuwong , Kaylene Fiala , Florencia Del Viso , Dihong Zhou , Emily A Fleming , Tomi Pastinen , Ali Fatemi , Sruthi Thomas , Samuel I Pascual , Rosa J Torres , Carmen Prior , Clara Gómez-González , Saskia Biskup , James R Lupski , Dragan Maric , Miguel Holmgren , Debra Regier , Sho T Yano

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

PLoS genetics
Avec: Zeineb Bakey , Oscar A Cabrera , Julia Hoefele , Dinu Antony , Kaman Wu , Michael W Stuck , Dimitra Micha , Thibaut Eguether , Abigail O Smith , Nicole N van der Wel , Matias Wagner , Lara Strittmatter , Philip L Beales , Julie A Jonassen , Maxime Cadieux-Dion , Laura Boyes , Saba Sharif , Beyhan Tüysüz , Desiree Dunstheimer , Hans W M Niessen , William Devine , Cecilia W Lo , Hannah M Mitchison , Miriam Schmidts , Gregory J Pazour

Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.

American journal of human genetics
Avec: Ana S A Cohen , Courtney D Berrios , Tricia N Zion , Cassandra M Barrett , Riley Moore , Emelia Boillat , Bradley Belden , Emily G Farrow , Britton D Zuccarelli , Tomi Pastinen

Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care.

Orthodontics & craniofacial research
Avec: Emily Farrow , Shankar Rengasamy Venugopalan , Carol Saunders

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

American journal of human genetics
Avec: Illja J Diets , Roos van der Donk , Kristina Baltrunaite , Esmé Waanders , Margot R F Reijnders , Alexander J M Dingemans , Rolph Pfundt , Anneke T Vulto-van Silfhout , Laurens Wiel , Christian Gilissen , Julien Thevenon , Laurence Perrin , Alexandra Afenjar , Caroline Nava , Boris Keren , Sarah Bartz , Bethany Peri , Gea Beunders , Nienke Verbeek , Koen van Gassen , Maxime Cadieux-Dion , Lina Huerta-Saenz , Matias Wagner , Vassiliki Konstantopoulou , Julia Vodopiutz , Matthias Griese , Annekatrien Boel , Bert Callewaert , Han G Brunner , Tjitske Kleefstra , Nicoline Hoogerbrugge , Bert B A de Vries , Vivian Hwa , Andrew Dauber , Jayne Y Hehir-Kwa , Roland P Kuiper , Marjolijn C J Jongmans

Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.

Human mutation
Avec: Simon Lebaron , Marie-Françoise O'Donohue , Scott C Smith , Kendra L Engleman , Jane Juusola , Nicole P Safina , Carol J Saunders , Pierre-Emmanuel Gleizes

Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Courtney Berrios , Emily A Hurley , Laurel Willig , Carol Saunders , Tomi Pastinen , Kathy Goggin , Emily Farrow

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lance H Rodan , Rebecca C Spillmann , Harley T Kurata , Shawn M Lamothe , Jasmine Maghera , Rami Abou Jamra , Anna Alkelai , Stylianos E Antonarakis , Isis Atallah , Omer Bar-Yosef , Frédéric Bilan , Kathrine Bjorgo , Xavier Blanc , Patrick Van Bogaert , Yoav Bolkier , Lindsay C Burrage , Björn U Christ , Jorge L Granadillo , Patricia Dickson , Kirsten A Donald , Christèle Dubourg , Aviva Eliyahu , Lisa Emrick , Kendra Engleman , Michaela Veronika Gonfiantini , Jean-Marc Good , Judith Kalser , Chiara Kloeckner , Guus Lachmeijer , Marina Macchiaiolo , Francesco Nicita , Sylvie Odent , Emily O'Heir , Xilma Ortiz-Gonzalez , Marta Pacio-Miguez , María Palomares-Bralo , Loren Pena , Konrad Platzer , Mathieu Quinodoz , Emmanuelle Ranza , Jill A Rosenfeld , Eliane Roulet-Perez , Avni Santani , Fernando Santos-Simarro , Ben Pode-Shakked , Cara Skraban , Rachel Slaugh , Andrea Superti-Furga , Richard H van Jaabrsveld , Marie Vincent , Hong-Gang Wang , Pia Zacher , Auteur inconnu , Eric Rush , Geoffrey S Pitt , Ping Yee Billie Au , Vandana Shashi

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ana S A Cohen , Emily G Farrow , Ahmed T Abdelmoity , Joseph T Alaimo , Shivarajan M Amudhavalli , John T Anderson , Lalit Bansal , Lauren Bartik , Primo Baybayan , Bradley Belden , Courtney D Berrios , Rebecca L Biswell , Pawel Buczkowicz , Orion Buske , Shreyasee Chakraborty , Warren A Cheung , Keith A Coffman , Ashley M Cooper , Laura A Cross , Tom Curran , Thuy Tien T Dang , Mary M Elfrink , Kendra L Engleman , Erin D Fecske , Cynthia Fieser , Keely Fitzgerald , Emily A Fleming , Randi N Gadea , Jennifer L Gannon , Rose N Gelineau-Morel , Margaret Gibson , Jeffrey Goldstein , Elin Grundberg , Kelsee Halpin , Brian S Harvey , Bryce A Heese , Wendy Hein , Suzanne M Herd , Susan S Hughes , Mohammed Ilyas , Jill Jacobson , Janda L Jenkins , Shao Jiang , Jeffrey J Johnston , Kathryn Keeler , Jonas Korlach , Jennifer Kussmann , Christine Lambert , Caitlin Lawson , Jean-Baptiste Le Pichon , James Steven Leeder , Vicki C Little , Daniel A Louiselle , Michael Lypka , Brittany D McDonald , Neil Miller , Ann Modrcin , Annapoorna Nair , Shelby H Neal , Christopher M Oermann , Donna M Pacicca , Kailash Pawar , Nyshele L Posey , Nigel Price , Laura M B Puckett , Julio F Quezada , Nikita Raje , William J Rowell , Eric T Rush , Venkatesh Sampath , Carol J Saunders , Caitlin Schwager , Richard M Schwend , Elizabeth Shaffer , Craig Smail , Sarah Soden , Meghan E Strenk , Bonnie R Sullivan , Brooke R Sweeney , Jade B Tam-Williams , Adam M Walter , Holly Welsh , Aaron M Wenger , Laurel K Willig , Yun Yan , Scott T Younger , Dihong Zhou , Tricia N Zion , Tomi Pastinen

Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.

Clinical chemistry
Avec: Lisa A Lansdon , Maxime Cadieux-Dion , John C Herriges , Jeffrey Johnston , Byunggil Yoo , Joseph T Alaimo , Neil Miller , Ana S A Cohen , Elena A Repnikova , Lei Zhang , Midhat S Farooqi , Emily G Farrow , Carol J Saunders

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.

American journal of human genetics
Avec: Xiao Chen , John Harting , Emily Farrow , Dalia Kasperaviciute , Auteur inconnu , Alexander Hoischen , Christian Gilissen , Tomi Pastinen , Michael A Eberle

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.

Frontiers in neurology
Avec: Stefanie Perrier , Kether Guerrero , Luan T Tran , Mackenzie A Michell-Robinson , Geneviève Legault , Bernard Brais , Michel Sylvain , James Dorman , Michelle Demos , Wolfgang Köhler , Tomi Pastinen , Geneviève Bernard

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 , Brittany C Thomas , Amanda Thomas-Wilson , Erin Thorpe , Timothy J Tidwell , Meghan C Towne , Hana Zouk , Auteur inconnu

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

European journal of human genetics : EJHG
Avec: Mythily Ganapathi , Leticia S Matsuoka , Michael March , Dong Li , Elly Brokamp , Sara Benito-Sanz , Susan M White , Katherine Lachlan , Priyanka Ahimaz , Anshuman Sewda , Lisa Bastarache , Amanda Thomas-Wilson , Joan M Stoler , Nuria C Bramswig , Julia Baptista , Karen Stals , Florence Demurger , Benjamin Cogne , Bertrand Isidor , Maria Francesca Bedeschi , Angela Peron , Jeanne Amiel , Elaine Zackai , John P Schacht , Alejandro D Iglesias , Jenny Morton , Ariane Schmetz , Auteur inconnu , Verónica Seidel , Stephanie Lucia , Stephanie M Baskin , Joy D Cogan , Christopher T Gordon , Wendy K Chung , Sarah Bowdin , Elizabeth Bhoj

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.

The Journal of experimental medicine
Avec: Victoria E Rael , Julian A Yano , John P Huizar , Leianna C Slayden , Madeleine A Weiss , Elizabeth A Turcotte , Jacob M Terry , Wenqi Zuo , Tomi Pastinen , Emily G Farrow , Janda L Jenkins , Mara L Becker , Stephen C Wong , Anne M Stevens , Catherine Otten , Eric J Allenspach , Devon E Bonner , Jonathan A Bernstein , Matthew T Wheeler , Robert A Saxton , Auteur inconnu , Bo Liu , Olivia Majer , Gregory M Barton

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

American journal of human genetics
Avec: Tassja Kalm , Claudia Schob , Hanna Völler , Thatjana Gardeitchik , Christian Gilissen , Rolph Pfundt , Chiara Klöckner , Konrad Platzer , Annick Klabunde-Cherwon , Markus Ries , Steffen Syrbe , Francesca Beccaria , Francesca Madia , Marcello Scala , Federico Zara , Floris Hofstede , Marleen E H Simon , Richard H van Jaarsveld , Renske Oegema , Koen L I van Gassen , Sjoerd J B Holwerda , Tahsin Stefan Barakat , Arjan Bouman , Marjon van Slegtenhorst , Sara Álvarez , Alberto Fernández-Jaén , Javier Porta , Andrea Accogli , Margherita Maria Mancardi , Pasquale Striano , Michele Iacomino , Jong-Hee Chae , SeSong Jang , Soo Y Kim , David Chitayat , Saadet Mercimek-Andrews , Christel Depienne , Antje Kampmeier , Alma Kuechler , Harald Surowy , Enrico Silvio Bertini , Francesca Clementina Radio , Cecilia Mancini , Simone Pizzi , Marco Tartaglia , Lucas Gauthier , David Genevieve , Mylène Tharreau , Noy Azoulay , Gal Zaks-Hoffer , Nesia K Gilad , Naama Orenstein , Geneviève Bernard , Jonas Denecke , Theresia Herget , Fanny Kortüm , Christian Kubisch , Robert Bähring , Stefan Kindler

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 , Erin Torti , Anne Chun-Hui Tsai , Xin Wang , Muhammad Zafar , Boris Keren , Uwe Kornak , Cornelius F Boerkoel , Ghayda Mirzaa , Nadja Ehmke

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

European journal of medical genetics
Avec: Elizabeth J Bhoj , Damien Haye , Annick Toutain , Dominique Bonneau , Irene Kibæk Nielsen , Ida Bay Lund , Pauline Bogaard , Stine Leenskjold , Kadri Karaer , Katherine T Wild , Katheryn L Grand , Mirena C Astiazaran , Luis A Gonzalez-Nieto , Ana Carvalho , Daphné Lehalle , Shivarajan M Amudhavalli , Elena Repnikova , Carol Saunders , Irfan Saadi , Dong Li , Hakon Hakonarson , Yoann Vial , Elaine Zackai , Patrick Callier , Séverine Drunat , Alain Verloes

Clinical genome sequencing in an unbiased pediatric cohort.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Emily Farrow , Lee Zellmer , Courtney Berrios , Neil Miller , Margaret Gibson , Raymond Caylor , Janda Jenkins , Deb Faller , Sarah Soden , Carol Saunders

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

American journal of human genetics
Avec: Dongxue Mao , Chloe M Reuter , Maura R Z Ruzhnikov , Anita E Beck , Emily G Farrow , Lisa T Emrick , Jill A Rosenfeld , Katherine M Mackenzie , Laurie Robak , Matthew T Wheeler , Lindsay C Burrage , Mahim Jain , Pengfei Liu , Daniel Calame , Sébastien Küry , Martin Sillesen , Klaus Schmitz-Abe , Davide Tonduti , Luigina Spaccini , Maria Iascone , Casie A Genetti , Mary K Koenig , Madeline Graf , Alyssa Tran , Mercedes Alejandro , Auteur inconnu , Brendan H Lee , Pankaj B Agrawal , Jonathan A Bernstein , Hugo J Bellen , Hsiao-Tuan Chao

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: James Fasham , Siying Lin , Promita Ghosh , Francesca Clementina Radio , Emily G Farrow , Jennifer Kussman , Dihong Zhou , Rick Hemming , Kenneth Zahka , Barry A Chioza , Lettie E Rawlins , Olivia K Wenger , Adam C Gunning , Simone Pizzi , Roberta Onesimo , Giuseppe Zampino , Emily Barker , Natasha Osawa , Megan Christine Rodriguez , Teresa M Neuhann , Elaine H Zackai , Beth Keena , Jenina Capasso , Alex V Levin , Elizabeth Bhoj , Dong Li , Hakon Hakonarson , Ingrid M Wentzensen , Adam Jackson , Kate E Chandler , Zeynep H Coban-Akdemir , Jennifer E Posey , Siddharth Banka , James R Lupski , Sarah E Sheppard , Marco Tartaglia , Barbara Triggs-Raine , Andrew H Crosby , Emma L Baple

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.

American journal of medical genetics. Part A
Avec: William Burns , Lynne M Bird , Delphine Heron , Boris Keren , Divya Ramachandra , Florencia Del Viso , Shivarajan Amudhavalli , Kendra Engleman , Ilaria Parenti , Frank J Kaiser , Jolanta Wierzba , Korbinian M Riedhammer , Susanne Liptay , Neda Zadeh , Joseph Porrmann , Andrea Fischer , Sophie Gößwein , Heather M McLaughlin , Aida Telegrafi , Katherine G Langley , Richard Steet , Raymond J Louie , Michael J Lyons

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 , 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

EPHB4 Mutation Suppresses PROX1 Expression and Disrupts Lymphatic Development in Neonatal Hydrops.

Pediatrics
Avec: Gangaram Akangire , Heather Menden , Sheng Xia , Atif Ahmed , Venkatesh Sampath

Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.

Clinical genetics
Avec: Maxime Cadieux-Dion , Emily Farrow , Ana S A Cohen , Holly Welsh , Lauren Bartik , Caitlin Schwager , Kendra Engleman , Dihong Zhou , Lei Zhang , Elena Repnikova , Shivarajan M Amudhavalli , Carol J Saunders

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

Brain : a journal of neurology
Avec: Raffaella De Pace , Reza Maroofian , Adeline Paimboeuf , Mina Zamani , Maha S Zaki , Saeid Sadeghian , Reza Azizimalamiri , Hamid Galehdari , Jawaher Zeighami , Chad D Williamson , Emily Fleming , Dihong Zhou , Jennifer L Gannon , Emmanuel Roze , Mohnish Suri , Giovanni Zifarelli , Peter Bauer , Henry Houlden , Mariasavina Severino , Shunmoogum A Patten , Emily Farrow , Juan S Bonifacino

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

American journal of human genetics
Avec: Shreyas Bhat , Justine Rousseau , Coralie Michaud , Charles Marques Lourenço , Joan M Stoler , Raymond J Louie , Lola K Clarkson , Angie Lichty , Daniel C Koboldt , Shalini C Reshmi , Sanjay M Sisodiya , Eva M M Hoytema van Konijnenburg , Klaas Koop , Peter M van Hasselt , Florence Démurger , Christèle Dubourg , Bonnie R Sullivan , Susan S Hughes , Elisabeth Simard Tremblay , Andrea Accogli , Myriam Srour , Rikard Blunck , Philippe M Campeau

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

American journal of human genetics
Avec: Eva Niggl , Arjan Bouman , Lauren C Briere , Remco M Hoogenboezem , Ilse Wallaard , Joohyun Park , Jakob Admard , Martina Wilke , Emilio D R O Harris-Mostert , Minetta Elgersma , Jennifer Bain , Meena Balasubramanian , Siddharth Banka , Paul J Benke , Miriam Bertrand , Alyssa E Blesson , Jill Clayton-Smith , Jamie M Ellingford , Madelyn A Gillentine , Dana H Goodloe , Tobias B Haack , Mahim Jain , Ian Krantz , Sharon M Luu , Molly McPheron , Candace L Muss , Sarah E Raible , Nathaniel H Robin , Michael Spiller , Susan Starling , David A Sweetser , Francesco Vetrini , Dennis Witt , Emily Woods , Dihong Zhou , Auteur inconnu , Auteur inconnu , Ype Elgersma , Annelot C M van Esbroeck

Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome

Frontiers in cellular neuroscience
Avec: Alexandra Chapleau , Renée-Myriam Boucher , Tomi Pastinen , Peter V Gould , Geneviève Bernard

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.

Orphanet journal of rare diseases
Avec: Ana Potic , Stefanie Perrier , Tijana Radovic , Svetlana Gavrilovic , Jelena Ostojic , Luan T Tran , Tomi Pastinen , Raphael Schiffmann , Geneviève Bernard

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Human molecular genetics
Avec: Zhigang Liu , Baozhong Xin , Iris N Smith , Valerie Sency , Julia Szekely , Anna Alkelai , Alan Shuldiner , Stephanie Efthymiou , Farrah Rajabi , Stephanie Coury , Catherine A Brownstein , Sabine Rudnik-Schöneborn , Ange-Line Bruel , Julien Thevenon , Shimriet Zeidler , Parul Jayakar , Axel Schmidt , Kirsten Cremer , Hartmut Engels , Sophia O Peters , Maha S Zaki , Ruizhi Duan , Changlian Zhu , Yiran Xu , Chao Gao , Tania Sepulveda-Morales , Reza Maroofian , Issam A Alkhawaja , Mariam Khawaja , Hunaida Alhalasah , Henry Houlden , Jill A Madden , Valentina Turchetti , Dana Marafi , Pankaj B Agrawal , Ulrich Schatz , Ari Rotenberg , Joshua Rotenberg , Grazia M S Mancini , Somayeh Bakhtiari , Michael Kruer , Steffen Hirsch , Maja Hempel , Lara G Stühn , Tobias B Haack , Jennifer E Posey , James R Lupski , Hyunpil Lee , Nicholas B Sarn , Charis Eng , Claudia Gonzaga-Jauregui , Bin Zhang , Heng Wang

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

American journal of human genetics
Avec: Daniel G Calame , Tianyu Guo , Chen Wang , Lillian Garrett , Angad Jolly , Moez Dawood , Alina Kurolap , Noa Zunz Henig , Jawid M Fatih , Isabella Herman , Haowei Du , Tadahiro Mitani , Lore Becker , Birgit Rathkolb , Raffaele Gerlini , Claudia Seisenberger , Susan Marschall , Jill V Hunter , Amanda Gerard , Alexis Heidlebaugh , Thomas Challman , Rebecca C Spillmann , Shalini N Jhangiani , Zeynep Coban-Akdemir , Seema Lalani , Lingxiao Liu , Anya Revah-Politi , Alejandro Iglesias , Edwin Guzman , Evan Baugh , Nathalie Boddaert , Sophie Rondeau , Clothide Ormieres , Giulia Barcia , Queenie K G Tan , Tomi Pastinen , Kazim Sheikh , Suur Biliciler , Davide Mei , Federico Melani , Vandana Shashi , Yuval Yaron , Mary Steele , Emma Wakeling , Elsebet Østergaard , Lusine Nazaryan-Petersen , Auteur inconnu , Francisca Millan , Teresa Santiago-Sim , Julien Thevenon , Ange-Line Bruel , Christel Thauvin-Robinet , Denny Popp , Konrad Platzer , Pawel Gawlinski , Wojciech Wiszniewski , Dana Marafi , Davut Pehlivan , Jennifer E Posey , Richard A Gibbs , Valerie Gailus-Durner , Renzo Guerrini , Helmut Fuchs , Martin Hrabě de Angelis , Sabine M Hölter , Hoi-Hung Cheung , Shen Gu , James R Lupski

Biallelic pathogenic variants in

Frontiers in neurology
Avec: Julia Macintosh , Stefanie Perrier , Maxime Pinard , Luan T Tran , Kether Guerrero , Chitra Prasad , Asuri N Prasad , Tomi Pastinen , Benoit Coulombe , Geneviève Bernard

Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes.

The Journal of pediatrics
Avec: Erica Sanford Kobayashi , Nava Shaul Lotan , Yael Dinur Schejter , Christine Makowski , Verena Kraus , Nanda Ramchandar , Vardiella Meiner , Emily Farrow , Julie Cakici , Stephen Kingsmore , Matias Wagner , Nikolaus Rieber , Matthew Bainbridge

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

Clinical genetics
Avec: Francesca Furia , Amanda M Levy , Miel Theunis , Michael J Bamshad , Meghan N Bartos , Emilia K Bijlsma , Francesco Brancati , Lucile Cejudo , Jessica X Chong , Chiara De Luca , Sarah Joy Dean , Alena Egense , Himanshu Goel , Adam J Guenzel , Ulrike Hüffmeier , Eric Legius , Grazia M S Mancini , Iñigo Marcos-Alcalde , Tanguy Niclass , Marc Planes , Sylvia Redon , David Ros-Pardo , Karen Rouault , Rachel Schot , Sarah Schuhmann , Joseph J Shen , Alice M Tao , Hilde Van Esch , Ingrid M Wentzensen , Tahsin Stefan Barakat , Rikke S Møller , Paulino Gomez-Puertas , Wendy K Chung , Elena Gardella , Zeynep Tümer

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Annals of neurology
Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal F Morel , Jordan Lerner-Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Alexander P A Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Giuseppe Zampino , Saskia B Wortmann , Johannes A Mayr , René G Feichtinger , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing.

The Journal of molecular diagnostics : JMD
Avec: Lisa A Lansdon , Maxime Cadieux-Dion , Byunggil Yoo , Neil Miller , Ana S A Cohen , Lee Zellmer , Lei Zhang , Emily G Farrow , Elena A Repnikova , Linda D Cooley , Joseph T Alaimo , Binu Porath , John C Herriges , Carol J Saunders , Midhat S Farooqi

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.

EMBO molecular medicine
Avec: Michaela Bosakova , Sara P Abraham , Alexandru Nita , Eva Hruba , Marcela Buchtova , S Paige Taylor , Ivan Duran , Jorge Martin , Katerina Svozilova , Tomas Barta , Miroslav Varecha , Lukas Balek , Jiri Kohoutek , Tomasz Radaszkiewicz , Ganesh V Pusapati , Vitezslav Bryja , Eric T Rush , Deborah A Nickerson , Michael J Bamshad , Auteur inconnu , Rajat Rohatgi , Daniel H Cohn , Deborah Krakow , Pavel Krejci

Spectrum of K

Annals of neurology
Avec: Seok Kyu Kang , Carlos G Vanoye , Sunita N Misra , Dennis M Echevarria , Jeffrey D Calhoun , John B O'Connor , Katarina L Fabre , Dianalee McKnight , Laurie Demmer , Paula Goldenberg , Lauren E Grote , Carol Saunders , Kevin A Strauss , Ali Torkamani , Jasper van der Smagt , Koen van Gassen , Robert P Carson , Jullianne Diaz , Eyby Leon , Joseph E Jacher , Mark C Hannibal , Jessica Litwin , Neil R Friedman , Allison Schreiber , Bryan Lynch , Annapurna Poduri , Eric D Marsh , Ethan M Goldberg , John J Millichap , Alfred L George , Jennifer A Kearney

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 , 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

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.

Human molecular genetics
Avec: Ewen W Sommerville , Xiao-Long Zhou , Monika Oláhová , Janda Jenkins , Liliya Euro , Svetlana Konovalova , Taru Hilander , Angela Pyle , Langping He , Sultan Habeebu , Carol Saunders , Anna Kelsey , Andrew A M Morris , Robert McFarland , Anu Suomalainen , Gráinne S Gorman , En-Duo Wang , Henna Tyynismaa , Robert W Taylor

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 , 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

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.

Human mutation
Avec: Tiana M Scott , Hui Guo , Evan E Eichler , Jill A Rosenfeld , Kaifang Pang , Zhandong Liu , Seema Lalani , Weimin Bi , Yaping Yang , Carlos A Bacino , Haley Streff , Andrea M Lewis , Mary K Koenig , Allison Bellomo , David B Everman , Julie R Jones , Roger E Stevenson , Raphael Bernier , Christian Gilissen , Rolph Pfundt , Susan M Hiatt , Gregory M Cooper , Jimmy L Holder , Daryl A Scott

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 , 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 heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

American journal of medical genetics. Part A
Avec: Ilana Chilton , Volkan Okur , Giuseppina Vitiello , Angelo Selicorni , Milena Mariani , Alice Goldenberg , Thomas Husson , Dominique Campion , Klaske D Lichtenbelt , Koen van Gassen , Michelle Steinraths , Jennifer Rice , Elizabeth R Roeder , Rebecca O Littlejohn , Myriam Srour , Guillaume Sebire , Andrea Accogli , Delphine Héron , Solveig Heide , Caroline Nava , Christel Depienne , Austin Larson , Dmitriy Niyazov , Meron Azage , George Hoganson , Jennifer Burton , Eric T Rush , Janda L Jenkins , Carol J Saunders , Joseph T Alaimo , Julie Fleischer , Daniel Groepper , Karen W Gripp , Wendy K Chung

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

European journal of human genetics : EJHG
Avec: Ange-Line Bruel , Antonio Vitobello , Linda Manwaring , Marcia Willing , Pankaj B Agrawal , Allan Bayat , Thomas M Kitzler , Catherine A Brownstein , Casie A Genetti , Joseph Gonzalez-Heydrich , Parul Jayakar , Jacob W Zyskind , Zehua Zhu , Clemence Vachet , Gena R Wilson , Brianna Pruniski , Anne-Marie Goyette , Yannis Duffourd , Christel Thauvin-Robinet , Christophe Philippe , Laurence Faivre

Pangenome graphs improve the analysis of structural variants in rare genetic diseases.

Nature communications
Avec: Cristian Groza , Carl Schwendinger-Schreck , Warren A Cheung , Emily G Farrow , Juniper Lake , William B Rizzo , Gilad Evrony , Tom Curran , Guillaume Bourque , Tomi Pastinen

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Morten Alstrup , Fabrizia Cesca , Alicja Krawczun-Rygmaczewska , Celia López-Menéndez , Julia Pose-Utrilla , Filip Christian Castberg , Mia Ortved Bjerager , Candice Finnila , Michael C Kruer , Somayeh Bakhtiari , Sergio Padilla-Lopez , Linda Manwaring , Boris Keren , Alexandra Afenjar , Daniele Galatolo , Roberta Scalise , Fillippo M Santorelli , Amelle Shillington , Myriam Vezain , Jelena Martinovic , Cathy Stevens , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Tomi Pastinen , Kristin Baranano , Angela Lee , Jorge Granadillo , Megan R Glassford , Catherine E Keegan , Nicole Matthews , Pascale Saugier-Veber , Teresa Iglesias , Elsebet Østergaard

Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.

American journal of medical genetics. Part A
Avec: Florencia Del Viso , Dihong Zhou , Caitlin Lawson , Laura Cross , Janda Jenkins , Eric Rush , Carol Saunders

Insurance denials and diagnostic rates in a pediatric genomic research cohort.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Tricia N Zion , Courtney D Berrios , Ana S A Cohen , Lauren Bartik , Laura A Cross , Kendra L Engleman , Emily A Fleming , Randi N Gadea , Susan S Hughes , Janda L Jenkins , Jennifer Kussmann , Caitlin Lawson , Caitlin Schwager , Meghan E Strenk , Holly Welsh , Eric T Rush , Shivarajan M Amudhavalli , Bonnie R Sullivan , Dihong Zhou , Jennifer L Gannon , Bryce A Heese , Riley Moore , Emelia Boillat , Rebecca L Biswell , Daniel A Louiselle , Laura M B Puckett , Shanna Beyer , Shelby H Neal , Victoria Sierant , Macy McBeth , Bradley Belden , Adam M Walter , Margaret Gibson , Warren A Cheung , Jeffrey J Johnston , Emily G Farrow , Elin Grundberg , Tomi Pastinen

medRxiv : the preprint server for health sciences
Avec: Zeineb Bakey , Oscar A Cabrera , Julia Hoefele , Dinu Antony , Kaman Wu , Michael W Stuck , Dimitra Micha , Thibaut Eguether , Abigail O Smith , Nicole N van der Wel , Matias Wagner , Lara Strittmatter , Philip L Beales , Julie A Jonassen , Maxime Cadieux-Dion , Laura Boyes , Saba Sharif , Beyhan Tüysüz , Desiree Dunstheimer , Hans W M Niessen , William Devine , Cecilia W Lo , Hannah M Mitchison , Miriam Schmidts , Gregory J Pazour

Loss-of-function variants in

medRxiv : the preprint server for health sciences
Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal Morel , Jordan Lerner- Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Sander Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Elisabeth Bosch , Bernt Popp , Esther Güse , Cindy Skinner , Pleuntje J van der Sluijs , Isabelle Maystadt , Anna Maria Pinto , Alessandra Renieri , Lucia Pia Bruno , Stefania Granata , Carlo Marcelis , Özlem Baysal , Dewi Hartwich , Laura Holthöfer , Bertrand Isidor , Benjamin Cogne , Dagmar Wieczorek , Valeria Capra , Marcello Scala , Patrizia De Marco , Marzia Ognibene , Rami Abou Jamra , Konrad Platzer , Lauren B Carter , Outi Kuismin , Arie van Haeringen , Reza Maroofian , Irene Valenzuela , Ivon Cuscó , Julian A Martinez-Agosto , Ahna M Rabani , Heather C Mefford , Elaine M Pereira , Charlotte Close , Kwame Anyane-Yeboa , Mallory Wagner , Mark C Hannibal , Pia Zacher , Gea Beunders , Muhammad Umair , Priya T Bhola , Erin McGinnis , John Millichap , Jiddeke M van de Kamp , Eloise J Prijoles , Amy Dobson , Amelle Shillington , Brett H Graham , Evan-Jacob Garcia , Maureen Kelly Galindo , Fabienne G Ropers , Esther A R Nibbeling , Gail Hubbard , Catherine Karimov , Guido Goj , Renee Bend , Julie Rath , Michelle M Morrow , Francisca Millan , Vincenzo Salpietro , Annalaura Torella , Vincenzo Nigro , Mitja Kurki , Roger E Stevenson , Gijs W E Santen , Markus Zweier , Philippe M Campeau , Mariasavina Severino , André Reis , Andrea Accogli , Georgia Vasileiou

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.

Nature communications
Avec: Warren A Cheung , Adam F Johnson , William J Rowell , Emily Farrow , Richard Hall , Ana S A Cohen , John C Means , Tricia N Zion , Daniel M Portik , Christopher T Saunders , Boryana Koseva , Chengpeng Bi , Tina K Truong , Carl Schwendinger-Schreck , Byunggil Yoo , Jeffrey J Johnston , Margaret Gibson , Gilad Evrony , William B Rizzo , Scott T Younger , Tom Curran , Aaron M Wenger , Elin Grundberg , Tomi Pastinen

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.

medRxiv : the preprint server for health sciences
Avec: Craig Smail , Bing Ge , Marissa R Keever-Keigher , Carl Schwendinger-Schreck , Warren Cheung , Jeffrey J Johnston , Cassandra Barrett , Auteur inconnu , Keith Feldman , Ana S A Cohen , Emily G Farrow , Elin Grundberg , Tomi Pastinen

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.

Nature communications
Avec: Craig Smail , Bing Ge , Marissa R Keever-Keigher , Carl Schwendinger-Schreck , Warren A Cheung , Jeffrey J Johnston , Cassandra Barrett , Auteur inconnu , Keith Feldman , Ana S A Cohen , Emily G Farrow , Elin Grundberg , Tomi Pastinen

Réseau de co-auteurs

None None 25 collaborations
Tomi Pastinen 19 collaborations
Dihong Zhou 12 collaborations
Boris Keren 12 collaborations
Emily G Farrow 12 collaborations
Geneviève Bernard 11 collaborations
Carol Saunders 10 collaborations
Ana S A Cohen 10 collaborations
Jill A Rosenfeld 9 collaborations
Emily Farrow 9 collaborations
Maxime Cadieux-Dion 8 collaborations
Kirsty McWalter 7 collaborations
Carol J Saunders 7 collaborations
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Oscar A Cabrera 2 collaborations
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