Lisa Emrick

None None 14 collaborations

Jill A Rosenfeld 13 collaborations

Lindsay C Burrage 8 collaborations

Brendan Lee 5 collaborations

Hongzheng Dai 4 collaborations

Christine M Eng 3 collaborations

Carlos A Bacino 3 collaborations

Fan Xia 3 collaborations

Seema R Lalani 3 collaborations

Jamie L Fraser 3 collaborations

Stephanie Keller 3 collaborations

Adeline Vanderver 3 collaborations

Pengfei Liu 3 collaborations

Lorraine Potocki 3 collaborations

Seema Lalani 3 collaborations

Xiaohui Li 2 collaborations

Weimin Bi 2 collaborations

Jason D Heaney 2 collaborations

Philippe M Campeau 2 collaborations

Daniel G Calame 2 collaborations

Timothy Lotze 2 collaborations

Mered Parnes 2 collaborations

Roa Sadat 2 collaborations

Mariasavina Severino 2 collaborations

Paul C Marcogliese 2 collaborations

Hugo J Bellen 2 collaborations

Keren Machol 2 collaborations

Joshua L Bonkowsky 2 collaborations

Florian Eichler 2 collaborations

Ali Fatemi 2 collaborations

Paul Orchard 2 collaborations

Keith Van Haren 2 collaborations

Francesca Fumagalli 2 collaborations

William J Craigen 2 collaborations

Marjolein H Willemsen 2 collaborations

Tjitske Kleefstra 2 collaborations

Shweta U Dhar 2 collaborations

Boris Keren 2 collaborations

Saadet Mercimek-Andrews 2 collaborations

Heather C Mefford 2 collaborations

David R Murdock 2 collaborations

Shamika Ketkar 2 collaborations

Ruben Attali 2 collaborations

Theresa Brunet 2 collaborations

Wendy K Chung 2 collaborations

Omar Sherbini 2 collaborations

Marjo S van der Knaap 2 collaborations

Amy Pizzino 2 collaborations

Justine Shults 2 collaborations

Paul J Benke 2 collaborations

Maria J Guillen Sacoto 2 collaborations

Sureni V Mullegama 2 collaborations

Rikke S Møller 2 collaborations

Konrad Platzer 2 collaborations

Genevieve Bernard 2 collaborations

Gaetan Lesca 2 collaborations

Yaping Yang 2 collaborations

John J Reynolds 1 collaboration

Nissan Vida Baratang 1 collaboration

Jennifer B Phillips 1 collaboration

Jeremy Wegner 1 collaboration

Ashley McFarquhar 1 collaboration

Martin R Higgs 1 collaboration

Audrey E Christiansen 1 collaboration

Denise G Lanza 1 collaboration

John R Seavitt 1 collaboration

Mahim Jain 1 collaboration

David A Parry 1 collaboration

Vandana Raman 1 collaboration

David Chitayat 1 collaboration

Ivan K Chinn 1 collaboration

Alison A Bertuch 1 collaboration

Lefkothea Karaviti 1 collaboration

Alan E Schlesinger 1 collaboration

Dawn Earl 1 collaboration

Michael Bamshad 1 collaboration

Ravi Savarirayan 1 collaboration

Harsha Doddapaneni 1 collaboration

Donna Muzny 1 collaboration

Shalini N Jhangiani 1 collaboration

Richard A Gibbs 1 collaboration

John Postlethwait 1 collaboration

Monte Westerfield 1 collaboration

Mary E Dickinson 1 collaboration

Arthur L Beaudet 1 collaboration

Emmanuelle Ranza 1 collaboration

Celine Huber 1 collaboration

Valérie Cormier-Daire 1 collaboration

Wei Shen 1 collaboration

Rong Mao 1 collaboration

Jordan S Orange 1 collaboration

Débora Bertola 1 collaboration

Guilherme L Yamamoto 1 collaboration

Wagner A R Baratela 1 collaboration

Merlin G Butler 1 collaboration

Asim Ali 1 collaboration

Mehdi Adeli 1 collaboration

Daniel H Cohn 1 collaboration

Deborah Krakow 1 collaboration

Andrew P Jackson 1 collaboration

Melissa Lees 1 collaboration

Amaka C Offiah 1 collaboration

Colleen M Carlston 1 collaboration

John C Carey 1 collaboration

Grant S Stewart 1 collaboration

Kimberly Houck 1 collaboration

Mariam Hull 1 collaboration

Andrea Accogli 1 collaboration

Shenzhao Lu 1 collaboration

Ilaria Musante 1 collaboration

Paolo Scudieri 1 collaboration

Simona Baldassari 1 collaboration

Michele Iacomino 1 collaboration

Antonella Riva 1 collaboration

Ganna Balagura 1 collaboration

Gianluca Piccolo 1 collaboration

Carlo Minetti 1 collaboration

Denis Roberto 1 collaboration

Razaali Razak 1 collaboration

Emily Lawrence 1 collaboration

Mohamed Hussein 1 collaboration

Emmanuel Yih-Herng Chang 1 collaboration

Michelle Holick 1 collaboration

Elisa Calì 1 collaboration

Emanuela Aliberto 1 collaboration

Rosalba De-Sarro 1 collaboration

Antonio Gambardella 1 collaboration

Undiagnosed Diseases Network 1 collaboration

SYNaPS Study Group 1 collaboration

Peter J A McCaffery 1 collaboration

Margaret Clagett-Dame 1 collaboration

Federico Zara 1 collaboration

Pasquale Striano 1 collaboration

Vincenzo Salpietro 1 collaboration

Matthew T Snyder 1 collaboration

Joshua Manor 1 collaboration

Charul Gijavanekar 1 collaboration

Elizabeth Mizerik 1 collaboration

Stephen F Kralik 1 collaboration

Sarah H Elsea 1 collaboration

Fernando Scaglia 1 collaboration

Laura A Adang 1 collaboration

Jaap Jan Boelens 1 collaboration

Eric Mallack 1 collaboration

Rebecca Ahrens-Nicklas 1 collaboration

John A Bernat 1 collaboration

Annette Bley 1 collaboration

Barbara Burton 1 collaboration

Alejandra Darling 1 collaboration

Erik Eklund 1 collaboration

Maria Escolar 1 collaboration

Amy Gaviglio 1 collaboration

Marc C Patterson 1 collaboration

Jennifer Orthmann-Murphy 1 collaboration

Jonathan D Santoro 1 collaboration

Ludger Schöls 1 collaboration

Caroline Sevin 1 collaboration

Isha N Srivastava 1 collaboration

Deepa Rajan 1 collaboration

Jennifer P Rubin 1 collaboration

Melissa Wasserstein 1 collaboration

Ayelet Zerem 1 collaboration

Lucia Laugwitz 1 collaboration

Laura Keehan 1 collaboration

Ming-Ming Jiang 1 collaboration

Ronit Marom 1 collaboration

David Murdock 1 collaboration

Jill V Hunter 1 collaboration

Laurie Robak 1 collaboration

Lauren S Blieden 1 collaboration

Richard Alan Lewis 1 collaboration

Alex V Levin 1 collaboration

Jenina Capasso 1 collaboration

Hui Guo 1 collaboration

Elisa Bettella 1 collaboration

Rongjuan Zhao 1 collaboration

Jonathan C Andrews 1 collaboration

Tomasz J Nowakowski 1 collaboration

Madelyn A Gillentine 1 collaboration

Kendra Hoekzema 1 collaboration

Tianyun Wang 1 collaboration

Huidan Wu 1 collaboration

Sharayu Jangam 1 collaboration

Cenying Liu 1 collaboration

Hailun Ni 1 collaboration

Bregje W van Bon 1 collaboration

Tuula Rinne 1 collaboration

Servi J C Stevens 1 collaboration

Han G Brunner 1 collaboration

Helger G Yntema 1 collaboration

Min Long 1 collaboration

Wenjing Zhao 1 collaboration

Zhengmao Hu 1 collaboration

Cindy Colson 1 collaboration

Nicolas Richard 1 collaboration

Charles E Schwartz 1 collaboration

Corrado Romano 1 collaboration

Lucia Castiglia 1 collaboration

Maria Bottitta 1 collaboration

Deanna J Erwin 1 collaboration

Alexandra Afenjar 1 collaboration

Baosheng Zhu 1 collaboration

Bing Bai 1 collaboration

Pawel Stankiewicz 1 collaboration

Kristin Herman 1 collaboration

Jane Juusola 1 collaboration

Amy B Wilfert 1 collaboration

Rami Abou Jamra 1 collaboration

Benjamin Büttner 1 collaboration

Alison M Muir 1 collaboration

Ingrid E Scheffer 1 collaboration

Brigid M Regan 1 collaboration

Stephen Malone 1 collaboration

Jozef Gecz 1 collaboration

Jan Cobben 1 collaboration

Marjan M Weiss 1 collaboration

Quinten Waisfisz 1 collaboration

Emilia K Bijlsma 1 collaboration

Mariëtte J V Hoffer 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Stefano Sartori 1 collaboration

Raphael A Bernier 1 collaboration

Michael F Wangler 1 collaboration

Shinya Yamamoto 1 collaboration

Kun Xia 1 collaboration

Alexander P A Stegmann 1 collaboration

Alessandra Murgia 1 collaboration

Evan E Eichler 1 collaboration

Ashanta Merriweather 1 collaboration

Sarah Nicholas 1 collaboration

Richard A Lewis 1 collaboration

Daryl A Scott 1 collaboration

Vernon Reid Sutton 1 collaboration

Sara M Fielder 1 collaboration

Joshua N Bembenek 1 collaboration

Hieu Hoang 1 collaboration

Dustin Baldridge 1 collaboration

Gary A Silverman 1 collaboration

Tim Schedl 1 collaboration

Stephen C Pak 1 collaboration

Daniel Brooks 1 collaboration

Elizabeth Burke 1 collaboration

Sukyeong Lee 1 collaboration

Tanya N Eble 1 collaboration

Melanie O'Leary 1 collaboration

Ikeoluwa Osei-Owusu 1 collaboration

Heidi L Rehm 1 collaboration

David Bick 1 collaboration

Michelle Nehrebecky 1 collaboration

Ellen Macnamara 1 collaboration

Dídac Casas-Alba 1 collaboration

Judith Armstrong 1 collaboration

Carolina Prat 1 collaboration

Antonio F Martínez-Monseny 1 collaboration

Francesc Palau 1 collaboration

David Adams 1 collaboration

Tomo Tarui 1 collaboration

Charu Venkatesan 1 collaboration

Dawn Gano 1 collaboration

Monica E Lemmon 1 collaboration

Sarah B Mulkey 1 collaboration

Andrea C Pardo 1 collaboration

Mark Scher 1 collaboration

Sonika Agarwal 1 collaboration

Shenglan Li 1 collaboration

Sen Zhao 1 collaboration

Jefferson C Sinson 1 collaboration

Aleksandar Bajic 1 collaboration

Matthew B Neeley 1 collaboration

Mezthly Pena 1 collaboration

Kim C Worley 1 collaboration

Monika Weisz-Hubshman 1 collaboration

Gary D Clark 1 collaboration

Hsiao-Tuan Chao 1 collaboration

Jennifer Sheppard 1 collaboration

My T T Nguyen 1 collaboration

Anahita Khoramnia 1 collaboration

Paula Patricia Hernandez 1 collaboration

Sandesh Cs Nagamani 1 collaboration

Zhandong Liu 1 collaboration

Reza Maroofian 1 collaboration

Mina Zamani 1 collaboration

Rauan Kaiyrzhanov 1 collaboration

Lutz Liebmann 1 collaboration

Ehsan Ghayoor Karimiani 1 collaboration

Barbara Vona 1 collaboration

Antje K Huebner 1 collaboration

Vinod K Misra 1 collaboration

Saeid Sadeghian 1 collaboration

Reza Azizimalamiri 1 collaboration

Mohammad Hasan Mohammadi 1 collaboration

Jawaher Zeighami 1 collaboration

Sogand Heydaran 1 collaboration

Mehran Beiraghi Toosi 1 collaboration

Javad Akhondian 1 collaboration

Meisam Babaei 1 collaboration

Narges Hashemi 1 collaboration

Rhonda E Schnur 1 collaboration

Mohnish Suri 1 collaboration

Jonas Setzke 1 collaboration

Matias Wagner 1 collaboration

Christopher M Grochowski 1 collaboration

Ute A Hellmich 1 collaboration

Miriam Schmidts 1 collaboration

James R Lupski 1 collaboration

Hamid Galehdari 1 collaboration

Henry Houlden 1 collaboration

Christian A Hübner 1 collaboration

Geneviève Bernard 1 collaboration

Guy Helman 1 collaboration

Ryan Boeck 1 collaboration

Jeffrey Cohn 1 collaboration

Abigail Collins 1 collaboration

Scott Demarest 1 collaboration

Katherine Dobbins 1 collaboration

Diane Masser-Frye 1 collaboration

Jean Hayward 1 collaboration

Swati Karmarkar 1 collaboration

Samuel Mirrop 1 collaboration

Wendy Mitchell 1 collaboration

Sheel Pathak 1 collaboration

Elliott Sherr 1 collaboration

Keith van Haren 1 collaboration

Erica Waters 1 collaboration

Jenny L Wilson 1 collaboration

Leah Zhorne 1 collaboration

Raphael Schiffmann 1 collaboration

Holly Dubbs 1 collaboration

Cas Simons 1 collaboration

Ryan J Taft 1 collaboration

Ariel Maia Lyons-Warren 1 collaboration

Robert C Stowe 1 collaboration

Jill Ann Jarrell 1 collaboration

Smitha Kumble 1 collaboration

Amanda M Levy 1 collaboration

Jaya Punetha 1 collaboration

Hua Gao 1 collaboration

Nicholas Ah Mew 1 collaboration

Kwame Anyane-Yeboa 1 collaboration

Sara M Berger 1 collaboration

Lise Bjerglund 1 collaboration

Belinda Campos-Xavier 1 collaboration

Michael Ciliberto 1 collaboration

Julie S Cohen 1 collaboration

Anne M Comi 1 collaboration

Cynthia Curry 1 collaboration

Lena Damaj 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Laurence Faivre 1 collaboration

Mary Beth Fasano 1 collaboration

Alice Fiévet 1 collaboration

Richard S Finkel 1 collaboration

Sixto García-Miñaúr 1 collaboration

Amanda Gerard 1 collaboration

Paulino Gomez-Puertas 1 collaboration

Trevor L Hoffman 1 collaboration

Lillian Howard 1 collaboration

Alejandro D Iglesias 1 collaboration

Kosuke Izumi 1 collaboration

Austin Larson 1 collaboration

Anja Leiber 1 collaboration

Reymundo Lozano 1 collaboration

Iñigo Marcos-Alcalde 1 collaboration

Cassie S Mintz 1 collaboration

Sylvie Odent 1 collaboration

Henry Oppermann 1 collaboration

Elsebet Ostergaard 1 collaboration

Marta Pacio-Míguez 1 collaboration

Maria Palomares-Bralo 1 collaboration

Sumit Parikh 1 collaboration

Anna M Paulson 1 collaboration

Jennifer E Posey 1 collaboration

Anya Revah-Politi 1 collaboration

Marlene Rio 1 collaboration

Alyssa L Ritter 1 collaboration

Scott Robinson 1 collaboration

Fernando Santos-Simarro 1 collaboration

Sérgio B Sousa 1 collaboration

Mathys Wéber 1 collaboration

Yili Xie 1 collaboration

Natasha J Brown 1 collaboration

Zeynep Tümer 1 collaboration

Marisa I Mendes 1 collaboration

Lydia M C Green 1 collaboration

Enrico Bertini 1 collaboration

Davide Tonduti 1 collaboration

Chiara Aiello 1 collaboration

Desiree Smith 1 collaboration

Ettore Salsano 1 collaboration

Shanice Beerepoot 1 collaboration

Jozef Hertecant 1 collaboration

Sarah von Spiczak 1 collaboration

John H Livingston 1 collaboration

Jamie Fraser 1 collaboration

Laura Russell 1 collaboration

Stefania Magri 1 collaboration

Daniela Di Bella 1 collaboration

Franco Taroni 1 collaboration

Mary K Koenig 1 collaboration

Isabella Moroni 1 collaboration

Gerarda Cappuccio 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Jullie Rhee 1 collaboration

Bryce A Mendelsohn 1 collaboration

Ingo Helbig 1 collaboration

Katherine Helbig 1 collaboration

Hiltrud Muhle 1 collaboration

Omar Ismayl 1 collaboration

Adeline L Vanderver 1 collaboration

Gajja S Salomons 1 collaboration

Nicole I Wolf 1 collaboration

Nisha Gadgil 1 collaboration

Samuel G McClugage 1 collaboration

Guillermo Aldave 1 collaboration

David F Bauer 1 collaboration

Howard L Weiner 1 collaboration

Thierry A G M Huisman 1 collaboration

Magdalena Sanz-Cortes 1 collaboration

Michael A Belfort 1 collaboration

Gary Clark 1 collaboration

Luc Joyeux 1 collaboration

William E Whitehead 1 collaboration

Francesco Miceli 1 collaboration

Charissa Millevert 1 collaboration

Maria Virginia Soldovieri 1 collaboration

Ilaria Mosca 1 collaboration

Paolo Ambrosino 1 collaboration

Lidia Carotenuto 1 collaboration

Dewi Schrader 1 collaboration

Hyun Kyung Lee 1 collaboration

James Riviello 1 collaboration

William Hong 1 collaboration

Sarah Risen 1 collaboration

Hitha Amin 1 collaboration

Dorothée Ville 1 collaboration

Patrick Edery 1 collaboration

Julitta de Bellescize 1 collaboration

Vincent Michaud 1 collaboration

Julien Van-Gils 1 collaboration

Cyril Goizet 1 collaboration

Allan Bayat 1 collaboration

Orrin Devinsky 1 collaboration

Tristan Sands 1 collaboration

G Christoph Korenke 1 collaboration

Gerhard Kluger 1 collaboration

Eva Brilstra 1 collaboration

Mathieu Milh 1 collaboration

Edward C Cooper 1 collaboration

Maurizio Taglialatela 1 collaboration

Sarah Weckhuysen 1 collaboration

Maria Carla Borroto 1 collaboration

Heena Patel 1 collaboration

Siddharth Srivastava 1 collaboration

Lindsay C Swanson 1 collaboration

Sandra Whalen 1 collaboration

Cyril Mignot 1 collaboration

Xiaodong Wang 1 collaboration

Qian Chen 1 collaboration

Scott McLean 1 collaboration

Rebecca O Littlejohn 1 collaboration

Cecile Acquaviva-Bourdain 1 collaboration

Catherine Sarret 1 collaboration

Laurie H Seaver 1 collaboration

Tobias Bartolomaeus 1 collaboration

Cornelia Wünsch 1 collaboration

Susann Fischer 1 collaboration

Ana Maria Rodriguez Barreto 1 collaboration

Jorge L Granadillo 1 collaboration

Elisabeth Schreiner 1 collaboration

Ulrich A Schatz 1 collaboration

Isabelle Thiffault 1 collaboration

Jacques L Michaud 1 collaboration

Fadi F Hamdan 1 collaboration

Elsa Rossignol 1 collaboration

Chong Sun 1 collaboration

Jie Song 1 collaboration

Yanjun Jiang 1 collaboration

Chongbo Zhao 1 collaboration

Jiahong Lu 1 collaboration

Yuxin Li 1 collaboration

Yin Wang 1 collaboration

Mingshi Gao 1 collaboration

Jianying Xi 1 collaboration

Sushan Luo 1 collaboration

Meixia Li 1 collaboration

Kevin Donaldson 1 collaboration

Stephanie N Oprescu 1 collaboration

Thomas P Slavin 1 collaboration

Sansan Lee 1 collaboration

Pilar L Magoulas 1 collaboration

Andrea M Lewis 1 collaboration

Zhiyv Niu 1 collaboration

Megan L Landsverk 1 collaboration

Magdalena Walkiewicz 1 collaboration

Richard E Person 1 collaboration

Hui Mei 1 collaboration

Anthony Antonellis 1 collaboration

Ya-Ming Hou 1 collaboration

Jie Lin 1 collaboration

Victor W Zhang 1 collaboration

Sugi Panneerselvam 1 collaboration

Julia Wang 1 collaboration

Wenmiao Zhu 1 collaboration

John G Pappas 1 collaboration

Rachel Rabin 1 collaboration

Karen J Low 1 collaboration

Rui Xiao 1 collaboration

Anne Anderson 1 collaboration

Vann Chau 1 collaboration

Claudia Soler-Alfonso 1 collaboration

Haley Streff 1 collaboration

Scott K Ward 1 collaboration

Alexandrea Wadley 1 collaboration

Chun-Hui Anne Tsai 1 collaboration

Kristen Fisher 1 collaboration

Kimberly M Houck 1 collaboration

William Craigen 1 collaboration

Kimberly Glaser 1 collaboration

Luis Rohena 1 collaboration

Karin E M Diderich 1 collaboration

Hennie T Bruggenwirth 1 collaboration

Carlos Bacino 1 collaboration

Laura Ann Adang 1 collaboration

Samuel Groeschel 1 collaboration

Chloe Grzyb 1 collaboration

Russell D'Aiello 1 collaboration

Francesco Gavazzi 1 collaboration

Nowa Bronner 1 collaboration

Akshilkumar Patel 1 collaboration

Ariel Vincent 1 collaboration

Anjana Sevagamoorthy 1 collaboration

Sylvia Mutua 1 collaboration

Kayla Muirhead 1 collaboration

Johanna Schmidt 1 collaboration

Emily Yu 1 collaboration

Danielle Jin 1 collaboration

Jean-Martin Boulanger 1 collaboration

Maura Ruzhnikov 1 collaboration

Michel Sylvain 1 collaboration

Cam-Tu Émilie Nguyen 1 collaboration

Ana Potic 1 collaboration

Eloise Uebergang 1 collaboration

Michele Poe 1 collaboration

Pouneh Amir Yazdani 1 collaboration

John Bernat 1 collaboration

Kristen Lindstrom 1 collaboration

Chloe A Stutterd 1 collaboration

Ashish O Gupta 1 collaboration

Merete Ljungberg 1 collaboration

Sabine Groenborg 1 collaboration

Alberto Zambon 1 collaboration

Sara Locatelli 1 collaboration

Saskia Elguen 1 collaboration

Christiane Kehrer 1 collaboration

Ingeborg Krägeloh-Mann 1 collaboration

Maria L Escolar 1 collaboration

Affiliations

Publications (26)

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.

A case of treatable encephalopathy, developmental regression, and proximal tremor.

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.

Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Genetic Testing and Counseling and Child Neurology.

A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Fetal Neurology Practice Survey: Current Practice and the Future Directions.

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.

Biallelic variants in SLC4A10 encoding the sodium-dependent chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder.

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.

Early Identification of Pediatric Neurology Patients With Palliative Care Needs: A Pilot Study.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Natural history of posterior fetal cephaloceles and incidence of progressive cephalocele herniation.

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.

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

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Réseau de co-auteurs