Eric Vilain

Surajit Bhattacharya 7 collaborations

Hayk Barseghyan 6 collaborations

Emmanuèle C Délot 6 collaborations

Emmanuèle Délot 4 collaborations

Georgia Pitsava 4 collaborations

Matthew S Bramble 4 collaborations

Seth I Berger 4 collaborations

Miguel Almalvez 3 collaborations

Amanda H Kahn-Kirby 3 collaborations

Jonathan LoTempio 3 collaborations

Andrea J Cohen 3 collaborations

Vincent A Fusaro 3 collaborations

David E Sandberg 3 collaborations

Neerja Vashist 3 collaborations

Jill A Rosenfeld 3 collaborations

Hila Sharim 2 collaborations

Sapir Margalit 2 collaborations

Yi-Wen Chen 2 collaborations

Yuval Ebenstein 2 collaborations

Francisco J Sánchez 2 collaborations

Erica D Smith 2 collaborations

Sarah K Savage 2 collaborations

E Hallie Andrew 2 collaborations

Gloria Mas Martin 2 collaborations

Seth Berger 2 collaborations

Kristen Kocher 2 collaborations

Desire Tshala-Katumbay 2 collaborations

Abhinav Parivesh 2 collaborations

Patricia Y Fechner 2 collaborations

Hans Manya 2 collaborations

Céleste Musasa 2 collaborations

Dieudonné Mumba Ngoyi 2 collaborations

Arthur Ko 2 collaborations

Alma Kuechler 2 collaborations

Lynne A Wolfe 2 collaborations

Christel Depienne 2 collaborations

Vincent R Harley 2 collaborations

Madhuri Kambhampati 2 collaborations

M Isabel Almira-Suarez 2 collaborations

Joyce Turner 2 collaborations

Roger J Packer 2 collaborations

John S Myseros 2 collaborations

Javad Nazarian 2 collaborations

Miriam Bornhorst 2 collaborations

Meilan M Rutter 2 collaborations

Assaf Grunwald 1 collaboration

Tslil Gabrieli 1 collaboration

Yael Michaeli 1 collaboration

Dmitry Torchinsky 1 collaboration

Rani Arielly 1 collaboration

Gil Nifker 1 collaboration

Matyas Juhasz 1 collaboration

Felix Gularek 1 collaboration

Brandon Dufault 1 collaboration

Sreetama Sen Chandra 1 collaboration

Alexander Liu 1 collaboration

Kathryn R Wagner 1 collaboration

Jonathan Pevsner 1 collaboration

Jeff Reifenberger 1 collaboration

Ernest T Lam 1 collaboration

Alex R Hastie 1 collaboration

Han Cao 1 collaboration

Elmar Weinhold 1 collaboration

Sven C Mueller 1 collaboration

Antonio Guillamon 1 collaboration

Leire Zubiaurre-Elorza 1 collaboration

Carme Junque 1 collaboration

Esther Gomez-Gil 1 collaboration

Carme Uribe 1 collaboration

Behzad S Khorashad 1 collaboration

Behnaz Khazai 1 collaboration

Ali Talaei 1 collaboration

Ute Habel 1 collaboration

Mikhail Votinov 1 collaboration

Birgit Derntl 1 collaboration

Rupert Lanzenberger 1 collaboration

Rene Seiger 1 collaboration

Georg S Kranz 1 collaboration

Baudewijntje P C Kreukels 1 collaboration

Peggy T Cohen Kettenis 1 collaboration

Sarah M Burke 1 collaboration

Nils B Lambalk 1 collaboration

Dick J Veltman 1 collaboration

Mathilde Kennis 1 collaboration

Alessandra Daphne Fisher 1 collaboration

Mario Mascalchi 1 collaboration

Gioele Gavazzi 1 collaboration

Stefano Orsolini 1 collaboration

Jiska Ristori 1 collaboration

Udo Dannlowski 1 collaboration

Dominik Grotegerd 1 collaboration

Carsten Konrad 1 collaboration

Maiko Abel Schneider 1 collaboration

Guy T'Sjoen 1 collaboration

Eileen Luders 1 collaboration

Daniel Okitundu-Luwa 1 collaboration

Dieudonne Mumba Ngoyi 1 collaboration

Martine Cools 1 collaboration

Earl Y Cheng 1 collaboration

Joanne Hall 1 collaboration

Julie Alderson 1 collaboration

Anne-Marie Amies Oelschlager 1 collaboration

Adam H Balen 1 collaboration

Yee-Ming Chan 1 collaboration

Mitchell E Geffner 1 collaboration

Claus H Gravholt 1 collaboration

Tülay Güran 1 collaboration

Piet Hoebeke 1 collaboration

Peter Lee 1 collaboration

Ellie Magritte 1 collaboration

Dina Matos 1 collaboration

Ken McElreavey 1 collaboration

Heino F L Meyer-Bahlburg 1 collaboration

Richard C Rink 1 collaboration

Alexander Springer 1 collaboration

Konrad M Szymanski 1 collaboration

Jo Williams 1 collaboration

Katja P Wolffenbuttel 1 collaboration

Ramnath Subramaniam 1 collaboration

Stefan Timmermans 1 collaboration

Ashelee Yang 1 collaboration

Melissa Gardner 1 collaboration

Catherine E Keegan 1 collaboration

Beverly M Yashar 1 collaboration

Margarett Shnorhavorian 1 collaboration

Laura A Siminoff 1 collaboration

Antonio R Porras 1 collaboration

Kizito Mosema Be Amoti 1 collaboration

D'Andre Spencer 1 collaboration

Cécile Dakande 1 collaboration

Esther Likuba 1 collaboration

Joachim Mukau Ebwel 1 collaboration

Helen Malherbe 1 collaboration

Bilal Mohammed 1 collaboration

Carlos Tor-Diez 1 collaboration

Désiré Tshala Katumbay 1 collaboration

Marius George Linguraru 1 collaboration

Erin Hallie Andrew 1 collaboration

Sofia Marmolejos 1 collaboration

Jessica Albert 1 collaboration

Beatrix Meltzer 1 collaboration

Jamie Fraser 1 collaboration

Debra S Regier 1 collaboration

Erica Smith 1 collaboration

Susan Knoblach 1 collaboration

Gloria Mas 1 collaboration

Robert Nussbaum 1 collaboration

Nickie Niforatos-Andescavage 1 collaboration

Diedtra Henderson 1 collaboration

Catherine Limperopoulos 1 collaboration

Yuyang Chen 1 collaboration

Ruebena Dawes 1 collaboration

Hyung Chul Kim 1 collaboration

Sarah L Stenton 1 collaboration

Susan Walker 1 collaboration

Alicia Ljungdahl 1 collaboration

Jenny Lord 1 collaboration

Vijay S Ganesh 1 collaboration

Jialan Ma 1 collaboration

Alexandra C Martin-Geary 1 collaboration

Gabrielle Lemire 1 collaboration

Elston N D'Souza 1 collaboration

Shan Dong 1 collaboration

Jamie M Ellingford 1 collaboration

David R Adams 1 collaboration

Kirsten Allan 1 collaboration

Madhura Bakshi 1 collaboration

Erin E Baldwin 1 collaboration

Jonathan A Bernstein 1 collaboration

Natasha J Brown 1 collaboration

Lindsay C Burrage 1 collaboration

Kimberly Chapman 1 collaboration

Alison G Compton 1 collaboration

Chloe A Cunningham 1 collaboration

Precilla D'Souza 1 collaboration

Kerith-Rae Dias 1 collaboration

Ellen R Elias 1 collaboration

Carey-Anne Evans 1 collaboration

Lisa Ewans 1 collaboration

Kimberly Ezell 1 collaboration

Jamie L Fraser 1 collaboration

Lyndon Gallacher 1 collaboration

Casie A Genetti 1 collaboration

Christina L Grant 1 collaboration

Tobias Haack 1 collaboration

Seema R Lalani 1 collaboration

Elsa Leitão 1 collaboration

Anna Le Fevre 1 collaboration

Richard J Leventer 1 collaboration

Jan E Liebelt 1 collaboration

Paul J Lockhart 1 collaboration

Alan S Ma 1 collaboration

Ellen F Macnamara 1 collaboration

Taylor M Maurer 1 collaboration

Hector R Mendez 1 collaboration

Stephen B Montgomery 1 collaboration

Marie-Cécile Nassogne 1 collaboration

Serena Neumann 1 collaboration

Melanie O'Leary 1 collaboration

Elizabeth E Palmer 1 collaboration

John Phillips 1 collaboration

Ryan Pysar 1 collaboration

Heidi L Rehm 1 collaboration

Chloe M Reuter 1 collaboration

Nicole Revencu 1 collaboration

Angelika Riess 1 collaboration

Rocio Rius 1 collaboration

Lance Rodan 1 collaboration

Tony Roscioli 1 collaboration

Rani Sachdev 1 collaboration

Cas Simons 1 collaboration

Sanjay M Sisodiya 1 collaboration

Penny Snell 1 collaboration

Laura St Clair 1 collaboration

Zornitza Stark 1 collaboration

Tiong Yang Tan 1 collaboration

Natalie B Tan 1 collaboration

Suzanna El Temple 1 collaboration

David R Thorburn 1 collaboration

Cynthia J Tifft 1 collaboration

Eloise Uebergang 1 collaboration

Grace E VanNoy 1 collaboration

David H Viskochil 1 collaboration

Laura Wedd 1 collaboration

Matthew T Wheeler 1 collaboration

Susan M White 1 collaboration

Monica Wojcik 1 collaboration

Zoe Wolfenson 1 collaboration

Changrui Xiao 1 collaboration

David Zocche 1 collaboration

John L Rubenstein 1 collaboration

Eirene Markenscoff-Papadimitriou 1 collaboration

Sebastian M Fica 1 collaboration

Diana Baralle 1 collaboration

Daniel G MacArthur 1 collaboration

Joanna Mm Howson 1 collaboration

Stephan J Sanders 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Nicola Whiffin 1 collaboration

Alejandra Reyes 1 collaboration

Janelle Ryan 1 collaboration

Vincent Harley 1 collaboration

Joohyung Lee 1 collaboration

Paulo Pinares-Garcia 1 collaboration

Hannah Loke 1 collaboration

Seungmin Ham 1 collaboration

Madeleine Foreman 1 collaboration

Lauren Hare 1 collaboration

Kate York 1 collaboration

Kara Balakrishnan 1 collaboration

Fintan Harte 1 collaboration

Jaco Erasmus 1 collaboration

Sulgi Lee 1 collaboration

Cheng-Ying Ho 1 collaboration

Eshini Panditharatna 1 collaboration

David Van Mater 1 collaboration

Lindsay Kilburn 1 collaboration

Clara M Abdelmalek 1 collaboration

Shriya Singh 1 collaboration

Blain Fasil 1 collaboration

Allison R Horvath 1 collaboration

Sarah B Mulkey 1 collaboration

Carlos Curé 1 collaboration

Maribel Campos 1 collaboration

Denise P Cavalcanti 1 collaboration

Van T Tong 1 collaboration

Marcela Mercado 1 collaboration

Marcela Daza 1 collaboration

Mónica Marcela Benavides 1 collaboration

Jacqueline Acosta 1 collaboration

Suzanne Gilboa 1 collaboration

Diana Valencia 1 collaboration

Christina L Sancken 1 collaboration

Suzanne Newton 1 collaboration

Deolinda M F Scalabrin 1 collaboration

Marisa M Mussi-Pinhata 1 collaboration

Zilton Vasconcelos 1 collaboration

Nahida Chakhtoura 1 collaboration

Jack Moye 1 collaboration

Elizabeth J Leslie 1 collaboration

Dorothy Bulas 1 collaboration

Gilbert Vezina 1 collaboration

Fernanda J P Marques 1 collaboration

Marcio Leyser 1 collaboration

Miguel Del Campo 1 collaboration

Roberta L DeBiasi 1 collaboration

Tongguang Wang 1 collaboration

Avindra Nath 1 collaboration

Tarik Haydar 1 collaboration

Max Muenke 1 collaboration

Tamer A Mansour 1 collaboration

Adre J du Plessis 1 collaboration

Jeffrey C Murray 1 collaboration

José F Cordero 1 collaboration

Youssef A Kousa 1 collaboration

Antoine Morel 1 collaboration

Amina Chahrazed Debieb 1 collaboration

David Mrejen 1 collaboration

Lucile Amrouche 1 collaboration

Anne Scemla 1 collaboration

Estelle Vilain 1 collaboration

Christophe Legendre 1 collaboration

Dany Anglicheau 1 collaboration

Julien Zuber 1 collaboration

Antoine Brézin 1 collaboration

Nathalie Chavarot 1 collaboration

Augustine Eze 1 collaboration

Ethan Putnam 1 collaboration

Christopher Rossi 1 collaboration

Mariam Barseghyan 1 collaboration

Nicole Del Risco 1 collaboration

David Dotson 1 collaboration

Brian Rood 1 collaboration

Ya Cui 1 collaboration

Wenbin Ye 1 collaboration

Jason Sheng Li 1 collaboration

Jingyi Jessica Li 1 collaboration

Tamer Sallam 1 collaboration

Wei Li 1 collaboration

Thatiana Evilen da Silva 1 collaboration

Nathalia Lisboa Gomes 1 collaboration

Antonio Marcondes Lerário 1 collaboration

Catherine Elizabeth Keegan 1 collaboration

Mirian Yumi Nishi 1 collaboration

Filomena Marino Carvalho 1 collaboration

Alejandro Martinez-Aguayo 1 collaboration

María Verónica Forclaz 1 collaboration

Regina Papazian 1 collaboration

Leila Cristina Pedroso de Paula 1 collaboration

Eduardo Corrêa Costa 1 collaboration

Luciani Renata Carvalho 1 collaboration

Alexander Augusto Lima Jorge 1 collaboration

Felipe Martins Elias 1 collaboration

Rod Mitchell 1 collaboration

Elaine Maria Frade Costa 1 collaboration

Berenice Bilharinho Mendonca 1 collaboration

Sorahia Domenice 1 collaboration

Bobby G Ng 1 collaboration

Paulina Sosicka 1 collaboration

Satish Agadi 1 collaboration

Mohammed Almannai 1 collaboration

Carlos A Bacino 1 collaboration

Rita Barone 1 collaboration

Lorenzo D Botto 1 collaboration

Jennifer E Burton 1 collaboration

Colleen Carlston 1 collaboration

Brian Hon-Yin Chung 1 collaboration

Julie S Cohen 1 collaboration

David Coman 1 collaboration

Katrina M Dipple 1 collaboration

Naghmeh Dorrani 1 collaboration

William B Dobyns 1 collaboration

Abdallah F Elias 1 collaboration

Leon Epstein 1 collaboration

William A Gahl 1 collaboration

Domenico Garozzo 1 collaboration

Trine Bjørg Hammer 1 collaboration

Jaclyn Haven 1 collaboration

Delphine Héron 1 collaboration

Matthew Herzog 1 collaboration

George E Hoganson 1 collaboration

Jesse M Hunter 1 collaboration

Mahim Jain 1 collaboration

Jane Juusola 1 collaboration

Shenela Lakhani 1 collaboration

Hane Lee 1 collaboration

Joy Lee 1 collaboration

Katherine Lewis 1 collaboration

Nicola Longo 1 collaboration

Charles Marques Lourenço 1 collaboration

Christopher C Y Mak 1 collaboration

Dianalee McKnight 1 collaboration

Bryce A Mendelsohn 1 collaboration

Cyril Mignot 1 collaboration

Ghayda Mirzaa 1 collaboration

Wendy Mitchell 1 collaboration

Hiltrud Muhle 1 collaboration

Stanley F Nelson 1 collaboration

Mariusz Olczak 1 collaboration

Christina G S Palmer 1 collaboration

Arthur Partikian 1 collaboration

Marc C Patterson 1 collaboration

Tyler M Pierson 1 collaboration

Shane C Quinonez 1 collaboration

Brigid M Regan 1 collaboration

M Elizabeth Ross 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Fernando Scaglia 1 collaboration

Ingrid E Scheffer 1 collaboration

Devorah Segal 1 collaboration

Nilika Shah Singhal 1 collaboration

Pasquale Striano 1 collaboration

Luisa Sturiale 1 collaboration

Joseph D Symonds 1 collaboration

Sha Tang 1 collaboration

Mary Willis 1 collaboration

Hui Yang 1 collaboration

Shoji Yano 1 collaboration

Zöe Powis 1 collaboration

Sharon F Suchy 1 collaboration

Andrew C Edmondson 1 collaboration

Stephanie Grunewald 1 collaboration

Hudson H Freeze 1 collaboration

Joel J Hughes 1 collaboration

Ebba Alkhunaizi 1 collaboration

Paul Kruszka 1 collaboration

Louise C Pyle 1 collaboration

Dorothy K Grange 1 collaboration

Katelyn K Payne 1 collaboration

Diane Masser-Frye 1 collaboration

Tommy Hu 1 collaboration

Michelle R Christie 1 collaboration

Nancy J Clegg 1 collaboration

Joshua L Everson 1 collaboration

Ariel F Martinez 1 collaboration

Laurence E Walsh 1 collaboration

Emma Bedoukian 1 collaboration

Marilyn C Jones 1 collaboration

Catharine Jean Harris 1 collaboration

Korbinian M Riedhammer 1 collaboration

Daniela Choukair 1 collaboration

Sophia B Hufnagel 1 collaboration

Maian Roifman 1 collaboration

Gad B Kletter 1 collaboration

Emmanuele Delot 1 collaboration

Robert J Lipinski 1 collaboration

Chad M Vezina 1 collaboration

Maximilian Muenke 1 collaboration

David Chitayat 1 collaboration

Phyllis W Speiser 1 collaboration

Reeti Chawla 1 collaboration

Ming Chen 1 collaboration

Alicia Diaz-Thomas 1 collaboration

Courtney Finlayson 1 collaboration

Kim Shimy 1 collaboration

Rashida Talib 1 collaboration

Jane Cerise 1 collaboration

Yotam Abramson 1 collaboration

Zohar Manber 1 collaboration

Ran Elkon 1 collaboration

Roded Sharan 1 collaboration

María José Martínez-Patiño 1 collaboration

Francisco Javier Blas Lopez 1 collaboration

Michel Dubois 1 collaboration

Juan Pedro Fuentes-García 1 collaboration

Sambhawa Priya 1 collaboration

Alban Mathieu 1 collaboration

D' Andre Spencer 1 collaboration

Michel Lupamba Kasendue 1 collaboration

Patrick Mamona Dilufwasayo 1 collaboration

Kevin Karume 1 collaboration

Joanna Nsibu 1 collaboration

Mary N A Uy 1 collaboration

Brian Colwell 1 collaboration

Michael Boivin 1 collaboration

J P Banae Mayambu 1 collaboration

Daniel Okitundu 1 collaboration

Arnaud Droit 1 collaboration

Ran Blekhman 1 collaboration

F A Rwatambuga 1 collaboration

E R Ali 1 collaboration

M S Bramble 1 collaboration

J E Gosschalk 1 collaboration

Morris Kim 1 collaboration

D L Yandju 1 collaboration

L A Okitundu 1 collaboration

M J Boivin 1 collaboration

J P Banea 1 collaboration

S K Westaway 1 collaboration

D Larry 1 collaboration

D Mumba Ngoyi 1 collaboration

D D Tshala-Katumbay 1 collaboration

Joery den Hoed 1 collaboration

Elke de Boer 1 collaboration

Norine Voisin 1 collaboration

Alexander J M Dingemans 1 collaboration

Nicolas Guex 1 collaboration

Laurens Wiel 1 collaboration

Christoffer Nellaker 1 collaboration

Shivarajan M Amudhavalli 1 collaboration

Siddharth Banka 1 collaboration

Frederique S Bena 1 collaboration

Bruria Ben-Zeev 1 collaboration

Vincent R Bonagura 1 collaboration

Ange-Line Bruel 1 collaboration

Theresa Brunet 1 collaboration

Han G Brunner 1 collaboration

Hui B Chew 1 collaboration

Jacqueline Chrast 1 collaboration

Loreta Cimbalistienė 1 collaboration

Hilary Coon 1 collaboration

None None 1 collaboration

Emmanuèlle C Délot 1 collaboration

Florence Démurger 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Dian Donnai 1 collaboration

David A Dyment 1 collaboration

Orly Elpeleg 1 collaboration

Laurence Faivre 1 collaboration

Christian Gilissen 1 collaboration

Leslie Granger 1 collaboration

Benjamin Haber 1 collaboration

Yasuo Hachiya 1 collaboration

Yasmin Hamzavi Abedi 1 collaboration

Jennifer Hanebeck 1 collaboration

Jayne Y Hehir-Kwa 1 collaboration

Brooke Horist 1 collaboration

Toshiyuki Itai 1 collaboration

Adam Jackson 1 collaboration

Rosalyn Jewell 1 collaboration

Kelly L Jones 1 collaboration

Shelagh Joss 1 collaboration

Hirofumi Kashii 1 collaboration

Mitsuhiro Kato 1 collaboration

Anja A Kattentidt-Mouravieva 1 collaboration

Fernando Kok 1 collaboration

Urania Kotzaeridou 1 collaboration

Vidya Krishnamurthy 1 collaboration

Vaidutis Kučinskas 1 collaboration

Alinoë Lavillaureix 1 collaboration

Pengfei Liu 1 collaboration

Linda Manwaring 1 collaboration

Naomichi Matsumoto 1 collaboration

Benoît Mazel 1 collaboration

Kirsty McWalter 1 collaboration

Vardiella Meiner 1 collaboration

Mohamad A Mikati 1 collaboration

Satoko Miyatake 1 collaboration

Takeshi Mizuguchi 1 collaboration

Lip H Moey 1 collaboration

Shehla Mohammed 1 collaboration

Hagar Mor-Shaked 1 collaboration

Hayley Mountford 1 collaboration

Ruth Newbury-Ecob 1 collaboration

Sylvie Odent 1 collaboration

Laura Orec 1 collaboration

Matthew Osmond 1 collaboration

Timothy B Palculict 1 collaboration

Michael Parker 1 collaboration

Andrea K Petersen 1 collaboration

Rolph Pfundt 1 collaboration

Eglė Preikšaitienė 1 collaboration

Kelly Radtke 1 collaboration

Emmanuelle Ranza 1 collaboration

Teresa Santiago-Sim 1 collaboration

Caitlin Schwager 1 collaboration

Margje Sinnema 1 collaboration

Lot Snijders Blok 1 collaboration

Rebecca C Spillmann 1 collaboration

Alexander P A Stegmann 1 collaboration

Isabelle Thiffault 1 collaboration

Linh Tran 1 collaboration

Adi Vaknin-Dembinsky 1 collaboration

Juliana H Vedovato-Dos-Santos 1 collaboration

Samantha A Schrier Vergano 1 collaboration

Antonio Vitobello 1 collaboration

Matias Wagner 1 collaboration

Androu Waheeb 1 collaboration

Marcia Willing 1 collaboration

Britton Zuccarelli 1 collaboration

Usha Kini 1 collaboration

Dianne F Newbury 1 collaboration

Tjitske Kleefstra 1 collaboration

Alexandre Reymond 1 collaboration

Simon E Fisher 1 collaboration

Lisenka E L M Vissers 1 collaboration

Affiliations

Publications (32)

Long-read single-molecule maps of the functional methylome.

nanotatoR: a tool for enhanced annotation of genomic structural variants.

The Neuroanatomy of Transgender Identity: Mega-Analytic Findings From the ENIGMA Transgender Persons Working Group.

"Development and Implementation of Novel Chatbot-based Genomic Research Consent".

DNA methylation patterns associated with konzo in Sub-Saharan Africa.

Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: common ground and opportunities for improvement.

Translating genomics to the clinical diagnosis of disorders/differences of sex development.

Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics.

Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo.

Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.

Using a chat-based informed consent tool in large-scale genomic research.

Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic.

Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development.

Sex-specific neuroprotection by inhibition of the Y-chromosome gene,

Genetic Link Between Gender Dysphoria and Sex Hormone Signaling.

Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.

Building a growing genomic data repository for maternal and fetal health through the PING Consortium.

CMV-related anterior and intermediate uveitis in a kidney transplant recipient treated with belatacept.

Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion.

A genome-wide spectrum of tandem repeat expansions in 338,963 humans.

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Sex steroid hormone modulation of neural stem cells: a critical review.

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.

Long reads capture simultaneous enhancer-promoter methylation status for cell-type deconvolution.

Effects of COVID-19 Home Confinement on Behavior, Perception of Threat, Stress and Training Patterns of Olympic and Paralympic Athletes.

The gut microbiome in konzo.

Motor control and cognition deficits associated with protein carbamoylation in food (cassava) cyanogenic poisoning: Neurodegeneration and genomic perspectives.

Towards improved genetic diagnosis of human differences of sex development.

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

Réseau de co-auteurs