Zoe Powis

Zöe Powis 8 collaborations

None None 7 collaborations

Sha Tang 6 collaborations

Rikke S Møller 4 collaborations

Deepali N Shinde 3 collaborations

Davide Mei 3 collaborations

William B Dobyns 3 collaborations

Renzo Guerrini 3 collaborations

Megan T Cho 3 collaborations

Gaetan Lesca 3 collaborations

Kirsten Blanco 2 collaborations

Margaret Au 2 collaborations

John M Graham 2 collaborations

Erika Palmaer 2 collaborations

Isabelle Thiffault 2 collaborations

Dong Li 2 collaborations

Julie S Cohen 2 collaborations

Catherine Nowak 2 collaborations

Elizabeth Bhoj 2 collaborations

Karen W Gripp 2 collaborations

Beth Keena 2 collaborations

Joseph T Shieh 2 collaborations

Louise Amlie-Wolf 2 collaborations

Brian Hon-Yin Chung 2 collaborations

Naghmeh Dorrani 2 collaborations

Holly Dubbs 2 collaborations

Stanley F Nelson 2 collaborations

Pavel N Pichurin 2 collaborations

Joan Stoler 2 collaborations

Neda Zadeh 2 collaborations

Elaine H Zackai 2 collaborations

Katherine L Helbig 2 collaborations

Steffen Syrbe 2 collaborations

Ingrid E Scheffer 2 collaborations

Giulia Barcia 2 collaborations

Jill A Rosenfeld 2 collaborations

Carlos A Bacino 2 collaborations

Cyril Mignot 2 collaborations

Ingrid M Wentzensen 2 collaborations

Luisa Sturiale 2 collaborations

Domenico Garozzo 2 collaborations

Jiddeke M van de Kamp 2 collaborations

Mary Willis 2 collaborations

Thomas Smol 2 collaborations

Marco Tartaglia 2 collaborations

Trine Bjørg Hammer 2 collaborations

Pasquale Striano 2 collaborations

Gregory M Cooper 2 collaborations

Maria J Guillen Sacoto 2 collaborations

Mahim Jain 2 collaborations

Christopher C Y Mak 2 collaborations

Bryce A Mendelsohn 2 collaborations

Hiltrud Muhle 2 collaborations

Eric W Klee 2 collaborations

Jonas Denecke 2 collaborations

Kelly Radtke 2 collaborations

Samin A Sajan 2 collaborations

Kelly D Farwell Hagman 1 collaboration

Kathryn Singh 1 collaboration

Natalie Gallant 1 collaboration

Linda M Randolph 1 collaboration

Meghan Towne 1 collaboration

Jesse Hunter 1 collaboration

Brian Schoenfeld 1 collaboration

Jameson Patak 1 collaboration

James Gilfert 1 collaboration

Melissa Byler 1 collaboration

Vamsee Neerukonda 1 collaboration

Laura Cross 1 collaboration

Shivarajan Amudhavalli 1 collaboration

Marta Pacio-Miguez 1 collaboration

Maria Palomares-Bralo 1 collaboration

Sixto Garcia-Minaur 1 collaboration

Fernando Santos-Simarro 1 collaboration

Wendy Alcaraz 1 collaboration

Julie Jurgens 1 collaboration

Brenda Barry 1 collaboration

Eleina England 1 collaboration

Elizabeth Engle 1 collaboration

Jonathon Hess 1 collaboration

Robert R Lebel 1 collaboration

Sarah E Sheppard 1 collaboration

Ian M Campbell 1 collaboration

Margaret H Harr 1 collaboration

Nina Gold 1 collaboration

Hans T Bjornsson 1 collaboration

Jill A Fahrner 1 collaboration

Ali Fatemi 1 collaboration

Jacqueline R Harris 1 collaboration

Cathy A Stevens 1 collaboration

Katheryn Grand 1 collaboration

Pedro A Sanchez-Lara 1 collaboration

Miguel Del Campo 1 collaboration

Marilyn C Jones 1 collaboration

Omar Abdul-Rahman 1 collaboration

Fowzan S Alkuraya 1 collaboration

Jennifer A Bassetti 1 collaboration

Katherine Bergstrom 1 collaboration

Sarah Dugan 1 collaboration

Julie D Kaplan 1 collaboration

Nada Derar 1 collaboration

Natalie Hauser 1 collaboration

A Micheil Innes 1 collaboration

Neslida Kodra 1 collaboration

Rebecca Miller 1 collaboration

Beverly Nelson 1 collaboration

Malgorzata J Nowaczyk 1 collaboration

Zuhair Rahbeeni 1 collaboration

Shay Ben-Shachar 1 collaboration

Anne Slavotinek 1 collaboration

Andrew K Sobering 1 collaboration

Mary-Alice Abbott 1 collaboration

Dawn C Allain 1 collaboration

Ping Yee Billie Au 1 collaboration

Emma Bedoukian 1 collaboration

Geoffrey Beek 1 collaboration

James Barry 1 collaboration

Janet Berg 1 collaboration

Jonathan A Bernstein 1 collaboration

Cheryl Cytrynbaum 1 collaboration

Sarah Donoghue 1 collaboration

Alison Eaton 1 collaboration

Josue A Flores-Daboub 1 collaboration

Carolyn A Felix 1 collaboration

Chin-To Fong 1 collaboration

Jasmine Lee Fong Fung 1 collaboration

Balram Gangaram 1 collaboration

Amy Goldstein 1 collaboration

Rotem Greenberg 1 collaboration

Thoa K Ha 1 collaboration

Joseph Hersh 1 collaboration

Kosuke Izumi 1 collaboration

Staci Kallish 1 collaboration

Elijah Kravets 1 collaboration

Pui-Yan Kwok 1 collaboration

Rebekah K Jobling 1 collaboration

Amy E Knight Johnson 1 collaboration

Jessica Kushner 1 collaboration

Bo Hoon Lee 1 collaboration

Brooke Levin 1 collaboration

Kristin Lindstrom 1 collaboration

Kandamurugu Manickam 1 collaboration

Rebecca Mardach 1 collaboration

Elizabeth McCormick 1 collaboration

D Ross McLeod 1 collaboration

Frank D Mentch 1 collaboration

Kelly Minks 1 collaboration

Colleen Muraresku 1 collaboration

Patrizia Porazzi 1 collaboration

Nina N Powell-Hamilton 1 collaboration

Alyssa Ritter 1 collaboration

Caleb Rogers 1 collaboration

Luis Rohena 1 collaboration

Carey Ronspies 1 collaboration

Audrey Schroeder 1 collaboration

Zornitza Stark 1 collaboration

Lois Starr 1 collaboration

Pim Suwannarat 1 collaboration

Milen Velinov 1 collaboration

Rosanna Weksberg 1 collaboration

Yael Wilnai 1 collaboration

Dina J Zand 1 collaboration

Marni J Falk 1 collaboration

Hakon Hakonarson 1 collaboration

Fabiola Quintero-Rivera 1 collaboration

Annalisa Vetro 1 collaboration

Hang N Nielsen 1 collaboration

Rikke Holm 1 collaboration

Robert F Hevner 1 collaboration

Elena Parrini 1 collaboration

Cristina Bellan 1 collaboration

Alessandro Simonati 1 collaboration

Gaétan Lesca 1 collaboration

Elizabeth E Palmer 1 collaboration

Elisa Ballardini 1 collaboration

Arie Van Haeringen 1 collaboration

Vincenzo Leuzzi 1 collaboration

Giovanni Cioni 1 collaboration

Cynthia J Curry 1 collaboration

Gregory Costain 1 collaboration

Margherita Santucci 1 collaboration

Karen Chong 1 collaboration

Grazia M S Mancini 1 collaboration

Jill Clayton-Smith 1 collaboration

Stefania Bigoni 1 collaboration

Bente Vilsen 1 collaboration

Katalin Kerti-Szigeti 1 collaboration

Sara Pepe 1 collaboration

Mary Kay Koenig 1 collaboration

Gretchen Von Allmen 1 collaboration

Kimberly McDonald 1 collaboration

Janice Baker 1 collaboration

Vikas Bhambhani 1 collaboration

Lance Rodan 1 collaboration

Rima Nabbout 1 collaboration

Lillian H Power 1 collaboration

Catharine J Harris 1 collaboration

Dragan Marjanovic 1 collaboration

Trine B Hammer 1 collaboration

Riikka Keski Filppula 1 collaboration

Päivi Vieira 1 collaboration

Clara Hildebrandt 1 collaboration

Stephanie Sacharow 1 collaboration

Luca Maragliano 1 collaboration

Fabio Benfenati 1 collaboration

Katherine Lachlan 1 collaboration

Andreas Benneche 1 collaboration

Florence Petit 1 collaboration

Jean Madeleine de Sainte Agathe 1 collaboration

Barbara Hallinan 1 collaboration

Yue Si 1 collaboration

Fanggeng Zou 1 collaboration

Vinodh Narayanan 1 collaboration

Naomichi Matsumoto 1 collaboration

Alessandra Boncristiano 1 collaboration

Giancarlo la Marca 1 collaboration

Mitsuhiro Kato 1 collaboration

Kristin Anderson 1 collaboration

Carmen Barba 1 collaboration

Roberto Bei 1 collaboration

Laura Masuelli 1 collaboration

Valerio Conti 1 collaboration

Gaia Novarino 1 collaboration

Anna Fassio 1 collaboration

Federico Tessadori 1 collaboration

Karen Duran 1 collaboration

Karen Knapp 1 collaboration

Matthias Fellner 1 collaboration

Sarah Smithson 1 collaboration

Ana Beleza Meireles 1 collaboration

Mariet W Elting 1 collaboration

Quinten Waisfisz 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Jessica Douglas 1 collaboration

Anne Ronan 1 collaboration

Theresa Brunet 1 collaboration

Urania Kotzaeridou 1 collaboration

Shayna Svihovec 1 collaboration

Margarita S Saenz 1 collaboration

Florencia Del Viso 1 collaboration

Patrick Devine 1 collaboration

Shannon Rego 1 collaboration

Jessica Tenney 1 collaboration

Arie van Haeringen 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Saskia Koene 1 collaboration

Stephen P Robertson 1 collaboration

Charulata Deshpande 1 collaboration

Rolph Pfundt 1 collaboration

Nienke Verbeek 1 collaboration

Janneke M M Weiss 1 collaboration

Anna Ruiz 1 collaboration

Elisabeth Gabau 1 collaboration

Ehud Banne 1 collaboration

Alexander Pepler 1 collaboration

Armand Bottani 1 collaboration

Sacha Laurent 1 collaboration

Michel Guipponi 1 collaboration

Emilia Bijlsma 1 collaboration

Ange-Line Bruel 1 collaboration

Arthur Sorlin 1 collaboration

Catherine Vincent-Delorme 1 collaboration

Diana Baralle 1 collaboration

Estelle Colin 1 collaboration

Nicole Revencu 1 collaboration

Eduardo Calpena 1 collaboration

Andrew O M Wilkie 1 collaboration

Maya Chopra 1 collaboration

Valerie Cormier-Daire 1 collaboration

Boris Keren 1 collaboration

Alexandra Afenjar 1 collaboration

Marcello Niceta 1 collaboration

Alessandra Terracciano 1 collaboration

Nicola Specchio 1 collaboration

Marlene Rio 1 collaboration

Sophie Rondeau 1 collaboration

Cindy Colson 1 collaboration

Jeroen Bakkers 1 collaboration

Peter D Mace 1 collaboration

Louise S Bicknell 1 collaboration

Gijs van Haaften 1 collaboration

Claudia Cuccurullo 1 collaboration

Emanuele Cerulli Irelli 1 collaboration

Lorenzo Ugga 1 collaboration

Antonella Riva 1 collaboration

Alessandra D'Amico 1 collaboration

Sara Cabet 1 collaboration

Leonilda Bilo 1 collaboration

Federico Zara 1 collaboration

Catrinel Iliescu 1 collaboration

Diana Barca 1 collaboration

France Fung 1 collaboration

Katherine Helbig 1 collaboration

Xilma Ortiz-Gonzalez 1 collaboration

Helenius J Schelhaas 1 collaboration

Marjolein H Willemsen 1 collaboration

Inge van der Linden 1 collaboration

Laura Canafoglia 1 collaboration

Carolina Courage 1 collaboration

Samuele Gommaraschi 1 collaboration

Pedro Gonzalez-Alegre 1 collaboration

Tanya Bardakjian 1 collaboration

Elisabeth Schuler 1 collaboration

Johannes R Lemke 1 collaboration

Stella Vari 1 collaboration

Gitte Roende 1 collaboration

Mads Bak 1 collaboration

Mahbulul Huq 1 collaboration

Katrine M Johannesen 1 collaboration

Rachel Rabin 1 collaboration

John Pappas 1 collaboration

Mary L Zupanc 1 collaboration

Julie Cohen 1 collaboration

Sakkubai Naidu 1 collaboration

Ilona Krey 1 collaboration

Russell Saneto 1 collaboration

Jenny Thies 1 collaboration

Laura Licchetta 1 collaboration

Paolo Tinuper 1 collaboration

Francesca Bisulli 1 collaboration

Raffaella Minardi 1 collaboration

Allan Bayat 1 collaboration

Nathalie Villeneuve 1 collaboration

Florence Molinari 1 collaboration

Hormos Salimi Dafsari 1 collaboration

Birk Moller 1 collaboration

Marie Le Roux 1 collaboration

Clara Houdayer 1 collaboration

Marilena Vecchi 1 collaboration

Isabella Mammi 1 collaboration

Elena Fiorini 1 collaboration

Jacopo Proietti 1 collaboration

Sofia Ferri 1 collaboration

Gaetano Cantalupo 1 collaboration

Domenica Immacolata Battaglia 1 collaboration

Maria Luigia Gambardella 1 collaboration

Ilaria Contaldo 1 collaboration

Claudia Brogna 1 collaboration

Marina Trivisano 1 collaboration

Angela De Dominicis 1 collaboration

Stefania Maria Bova 1 collaboration

Elena Gardella 1 collaboration

Antonietta Coppola 1 collaboration

Markus Zweier 1 collaboration

Anaïs Begemann 1 collaboration

Kirsty McWalter 1 collaboration

Lucia Abela 1 collaboration

Siddharth Banka 1 collaboration

Bettina Behring 1 collaboration

Andrea Berger 1 collaboration

Chester W Brown 1 collaboration

Maryline Carneiro 1 collaboration

Jiani Chen 1 collaboration

Candice R Finnila 1 collaboration

Alex Henderson 1 collaboration

Ulrike Hüffmeier 1 collaboration

Pascal Joset 1 collaboration

Bronwyn Kerr 1 collaboration

Gloria S Leszinski 1 collaboration

John Henry McDermott 1 collaboration

Meira R Meltzer 1 collaboration

Kristin G Monaghan 1 collaboration

Roya Mostafavi 1 collaboration

Katrin Õunap 1 collaboration

Barbara Plecko 1 collaboration

Gabriela Purcarin 1 collaboration

Tiia Reimand 1 collaboration

Korbinian M Riedhammer 1 collaboration

John M Schreiber 1 collaboration

Deepa Sirsi 1 collaboration

Klaas J Wierenga 1 collaboration

Monica H Wojcik 1 collaboration

Sorina M Papuc 1 collaboration

Katharina Steindl 1 collaboration

Heinrich Sticht 1 collaboration

Anita Rauch 1 collaboration

Bobby G Ng 1 collaboration

Paulina Sosicka 1 collaboration

Satish Agadi 1 collaboration

Mohammed Almannai 1 collaboration

Rita Barone 1 collaboration

Lorenzo D Botto 1 collaboration

Jennifer E Burton 1 collaboration

Colleen Carlston 1 collaboration

David Coman 1 collaboration

Katrina M Dipple 1 collaboration

Abdallah F Elias 1 collaboration

Leon Epstein 1 collaboration

William A Gahl 1 collaboration

Jaclyn Haven 1 collaboration

Delphine Héron 1 collaboration

Matthew Herzog 1 collaboration

George E Hoganson 1 collaboration

Jesse M Hunter 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

Dianalee McKnight 1 collaboration

Ghayda Mirzaa 1 collaboration

Wendy Mitchell 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

Fernando Scaglia 1 collaboration

Devorah Segal 1 collaboration

Nilika Shah Singhal 1 collaboration

Joseph D Symonds 1 collaboration

Eric Vilain 1 collaboration

Lynne A Wolfe 1 collaboration

Hui Yang 1 collaboration

Shoji Yano 1 collaboration

Sharon F Suchy 1 collaboration

Andrew C Edmondson 1 collaboration

Stephanie Grunewald 1 collaboration

Hudson H Freeze 1 collaboration

Stefan Wolking 1 collaboration

Patrick May 1 collaboration

Simona Balestrini 1 collaboration

Cecilia Desmettre Altuzarra 1 collaboration

Nicolas Chatron 1 collaboration

Charu Kaiwar 1 collaboration

Katharina Stöhr 1 collaboration

Peter Widdess-Walsh 1 collaboration

Adam Numis 1 collaboration

Maria R Cilio 1 collaboration

Wim Van Paesschen 1 collaboration

Lene L Svendsen 1 collaboration

Stephanie Oates 1 collaboration

Elaine Hughes 1 collaboration

Sushma Goyal 1 collaboration

Kathleen Brown 1 collaboration

Margarita Sifuentes Saenz 1 collaboration

Thomas Dorn 1 collaboration

Alistair T Pagnamenta 1 collaboration

Dimitris V Vavoulis 1 collaboration

Samantha J L Knight 1 collaboration

Jenny C Taylor 1 collaboration

Maria Paola Canevini 1 collaboration

Francesca Darra 1 collaboration

Ralitza H Gavrilova 1 collaboration

Shan Tang 1 collaboration

Justus Marquetand 1 collaboration

Martin Armstrong 1 collaboration

Duncan McHale 1 collaboration

Gerhard J Kluger 1 collaboration

Daniel H Lowenstein 1 collaboration

Sarah Weckhuysen 1 collaboration

Deb K Pal 1 collaboration

Ingo Helbig 1 collaboration

Rhys H Thomas 1 collaboration

Mark I Rees 1 collaboration

Sanjay M Sisodiya 1 collaboration

Yvonne G Weber 1 collaboration

Dennis Lal 1 collaboration

Carla Marini 1 collaboration

Holger Lerche 1 collaboration

Julian Schubert 1 collaboration

Dan Doherty 1 collaboration

Angela E Lin 1 collaboration

Nancy Vegas 1 collaboration

Géraldine Viot 1 collaboration

Clémantine Dimartino 1 collaboration

James D Weisfeld-Adams 1 collaboration

Davor Lessel 1 collaboration

Shelagh Joss 1 collaboration

Chumei Li 1 collaboration

Claudia Gonzaga-Jauregui 1 collaboration

Yuri A Zarate 1 collaboration

Nadja Ehmke 1 collaboration

Denise Horn 1 collaboration

Caitlin Troyer 1 collaboration

Sarina G Kant 1 collaboration

Youngha Lee 1 collaboration

Gisele E Ishak 1 collaboration

Gordon Leung 1 collaboration

Amanda Barone Pritchard 1 collaboration

Sandra Yang 1 collaboration

Eric G Bend 1 collaboration

Francesca Filippini 1 collaboration

Chelsea Roadhouse 1 collaboration

Nicolas Lebrun 1 collaboration

Michele G Mehaffey 1 collaboration

Pierre-Marie Martin 1 collaboration

Benjamin Apple 1 collaboration

Francisca Millan 1 collaboration

Oliver Puk 1 collaboration

Mariette J V Hoffer 1 collaboration

Lindsay B Henderson 1 collaboration

Ruth McGowan 1 collaboration

Steven Pei 1 collaboration

Farah R Zahir 1 collaboration

Mullin Yu 1 collaboration

William T Gibson 1 collaboration

Ann Seman 1 collaboration

Marcie Steeves 1 collaboration

Jill R Murrell 1 collaboration

Sabine Luettgen 1 collaboration

Elizabeth Francisco 1 collaboration

Tim M Strom 1 collaboration

Angela M Kaindl 1 collaboration

William G Wilson 1 collaboration

Sara Halbach 1 collaboration

Lina Basel-Salmon 1 collaboration

Noa Lev-El 1 collaboration

Lisenka E L M Vissers 1 collaboration

Jamel Chelly 1 collaboration

Elaine Zackai 1 collaboration

Jan M Friedman 1 collaboration

Michael J Bamshad 1 collaboration

Deborah A Nickerson 1 collaboration

Russell R Reid 1 collaboration

Koenraad Devriendt 1 collaboration

Jong-Hee Chae 1 collaboration

Elliot Stolerman 1 collaboration

Carey McDougall 1 collaboration

Thierry Bienvenu 1 collaboration

Tiong Y Tan 1 collaboration

Naama Orenstein 1 collaboration

Murim Choi 1 collaboration

Darrel Waggoner 1 collaboration

Michael J Parker 1 collaboration

Stanislas Lyonnet 1 collaboration

Valérie Cormier-Daire 1 collaboration

David Viskochil 1 collaboration

Trevor L Hoffman 1 collaboration

Jeanne Amiel 1 collaboration

Brian H Y Chung 1 collaboration

Christopher T Gordon 1 collaboration

Theodore G Drivas 1 collaboration

Divya Nair 1 collaboration

Joseph T Alaimo 1 collaboration

Mariëlle Alders 1 collaboration

Janine Altmüller 1 collaboration

Tahsin Stefan Barakat 1 collaboration

E Martina Bebin 1 collaboration

Nicole L Bertsch 1 collaboration

Patrick R Blackburn 1 collaboration

Alyssa Blesson 1 collaboration

Arjan M Bouman 1 collaboration

Knut Brockmann 1 collaboration

Perrine Brunelle 1 collaboration

Margit Burmeister 1 collaboration

Anne Dieux-Coëslier 1 collaboration

Alejandro Ferrer 1 collaboration

Danna Gal 1 collaboration

Lauren E Bartik 1 collaboration

Lauren B Gunderson 1 collaboration

Linda Hasadsri 1 collaboration

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Katja Kloth 1 collaboration

Baiba Lace 1 collaboration

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Julien L Marcadier 1 collaboration

Jeff M Milunsky 1 collaboration

Melanie P Napier 1 collaboration

Xilma R Ortiz-Gonzalez 1 collaboration

Jason Pinner 1 collaboration

Chitra Prasad 1 collaboration

Francesca Clementina Radio 1 collaboration

Kristen J Rasmussen 1 collaboration

Deborah L Renaud 1 collaboration

Eric T Rush 1 collaboration

Carol Saunders 1 collaboration

Duygu Selcen 1 collaboration

Ann R Seman 1 collaboration

Erica D Smith 1 collaboration

Lot Snijders Blok 1 collaboration

Joan M Stoler 1 collaboration

Michelle L Thompson 1 collaboration

Jingmin Wang 1 collaboration

Dagmar Weise 1 collaboration

Karin Weiss 1 collaboration

Rixa Woitschach 1 collaboration

Bernd Wollnik 1 collaboration

Huifang Yan 1 collaboration

Giuseppe Zampino 1 collaboration

Philippe Campeau 1 collaboration

Meghan C Towne 1 collaboration

Kelly D F Hagman 1 collaboration

Andrew Castro 1 collaboration

Timothy J Feyma 1 collaboration

Kali Juliette 1 collaboration

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Jaya Ganesh 1 collaboration

Maria I Scarano 1 collaboration

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Affiliations

Publications (14)

When moments matter: Finding answers with rapid exome sequencing.

MAGEL2-related disorders: A study and case series.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.

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

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

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

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

Clinical spectrum of

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.

Biallelic disruption of

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