Journal

medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986

Informations de publication

Date de publication:
09 Apr 2024
Historique:
medline: 22 4 2024
pubmed: 22 4 2024
entrez: 22 4 2024
Statut: epublish

Résumé

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes

Identifiants

DOI: 10.1101/2024.04.07.24305438 PMID: 38645094 PMC: PMC11030480
pubmed: 38645094
doi: 10.1101/2024.04.07.24305438
pmc: PMC11030480
pii:
doi:

Types de publication

Preprint

Langues

eng

Auteurs

Yuyang Chen (Y)

Ruebena Dawes (R)

Hyung Chul Kim (HC)

Sarah L Stenton (SL)

Susan Walker (S)

Alicia Ljungdahl (A)

Jenny Lord (J)

Vijay S Ganesh (VS)

ORCID: 0000-0002-8709-9351

Jialan Ma (J)

Alexandra C Martin-Geary (AC)

Gabrielle Lemire (G)

Elston N D'Souza (EN)

Shan Dong (S)

Jamie M Ellingford (JM)

David R Adams (DR)

ORCID: 0000-0002-6660-1242

Kirsten Allan (K)

Madhura Bakshi (M)

Erin E Baldwin (EE)

Seth I Berger (SI)

ORCID: 0000-0001-7517-4302

Jonathan A Bernstein (JA)

ORCID: 0000-0001-5369-346X

Natasha J Brown (NJ)

Lindsay C Burrage (LC)

ORCID: 0000-0002-5108-8861

Kimberly Chapman (K)

Alison G Compton (AG)

ORCID: 0000-0002-2725-7055

Chloe A Cunningham (CA)

ORCID: 0000-0002-2525-1936

Precilla D'Souza (P)

ORCID: 0009-0007-0395-1011

Emmanuèle C Délot (EC)

Kerith-Rae Dias (KR)

ORCID: 0000-0002-4707-8089

Ellen R Elias (ER)

Carey-Anne Evans (CA)

Lisa Ewans (L)

Kimberly Ezell (K)

ORCID: 0009-0005-7200-7644

Jamie L Fraser (JL)

ORCID: 0000-0002-7794-8903

Lyndon Gallacher (L)

ORCID: 0000-0003-2245-9034

Casie A Genetti (CA)

Christina L Grant (CL)

ORCID: 0000-0002-0627-4614

Tobias Haack (T)

Alma Kuechler (A)

Seema R Lalani (SR)

ORCID: 0000-0003-0707-657X

Elsa Leitão (E)

ORCID: 0000-0001-5051-9714

Anna Le Fevre (AL)

ORCID: 0000-0001-5843-9516

Richard J Leventer (RJ)

ORCID: 0000-0003-0362-5607

Jan E Liebelt (JE)

Paul J Lockhart (PJ)

ORCID: 0000-0003-2531-8413

Alan S Ma (AS)

ORCID: 0000-0002-9293-4753

Ellen F Macnamara (EF)

ORCID: 0000-0002-9418-3287

Taylor M Maurer (TM)

ORCID: 0009-0002-2330-7980

Hector R Mendez (HR)

ORCID: 0000-0001-6465-452X

Stephen B Montgomery (SB)

ORCID: 0000-0002-5200-3903

Marie-Cécile Nassogne (MC)

Serena Neumann (S)

Melanie O'Leary (M)

Elizabeth E Palmer (EE)

ORCID: 0000-0003-1844-215X

John Phillips (J)

Georgia Pitsava (G)

Ryan Pysar (R)

Heidi L Rehm (HL)

ORCID: 0000-0002-6025-0015

Chloe M Reuter (CM)

ORCID: 0000-0002-0429-9922

Nicole Revencu (N)

Angelika Riess (A)

Rocio Rius (R)

ORCID: 0000-0002-9871-3126

Lance Rodan (L)

Tony Roscioli (T)

Jill A Rosenfeld (JA)

ORCID: 0000-0001-5664-7987

Rani Sachdev (R)

Cas Simons (C)

ORCID: 0000-0003-3147-8042

Sanjay M Sisodiya (SM)

Penny Snell (P)

Laura St Clair (LS)

Zornitza Stark (Z)

ORCID: 0000-0001-8640-1371

Tiong Yang Tan (TY)

ORCID: 0000-0001-8455-7778

Natalie B Tan (NB)

ORCID: 0000-0003-3339-7342

Suzanna El Temple (SE)

David R Thorburn (DR)

ORCID: 0000-0002-7725-9470

Cynthia J Tifft (CJ)

ORCID: 0000-0002-3931-1207

Eloise Uebergang (E)

ORCID: 0000-0003-0305-7822

Grace E VanNoy (GE)

ORCID: 0000-0003-1257-9702

Eric Vilain (E)

ORCID: 0000-0002-5557-3709

David H Viskochil (DH)

Laura Wedd (L)

Matthew T Wheeler (MT)

ORCID: 0000-0001-8721-3022

Susan M White (SM)

ORCID: 0000-0001-7611-634X

Monica Wojcik (M)

ORCID: 0000-0002-8162-5031

Lynne A Wolfe (LA)

Zoe Wolfenson (Z)

Changrui Xiao (C)

ORCID: 0000-0001-9536-3389

David Zocche (D)

ORCID: 0000-0003-1390-0334

John L Rubenstein (JL)

Eirene Markenscoff-Papadimitriou (E)

Sebastian M Fica (SM)

Diana Baralle (D)

Christel Depienne (C)

ORCID: 0000-0002-7212-9554

Daniel G MacArthur (DG)

Joanna Mm Howson (JM)

ORCID: 0000-0001-7618-0050

Stephan J Sanders (SJ)

ORCID: 0000-0001-9112-5148

Anne O'Donnell-Luria (A)

ORCID: 0000-0001-6418-9592

Nicola Whiffin (N)

ORCID: 0000-0003-1554-6594

Classifications MeSH