American Journal of Human Genetics, volume 112, issue 3, pages 537-553

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

Gazelle Zerafati-Jahromi

Elias Oxman

Hieu D. Hoang

Wu-Lin Charng

Tanvitha Kotla

Weimin Yuan

Keito Ishibashi

Sonia Sebaoui

Kathryn Luedtke

Bryce Winrow

Rebecca D. Ganetzky

Anna Ruiz

Carmen Manso-Basúz

Nino Spataro

Peter Kannu

Taryn Athey

Christina Peroutka

Caitlin Barnes

Richard Sidlow

George Anadiotis

Kari Magnussen

Irene Valenzuela

Alejandro Moles-Fernandez

Seth Berger

Christina L Grant

Eric Vilain

Gudny A. Arnadottir

Patrick Sulem

Telma S. Sulem

Kari Stefansson

Shavonne Massey

Natalie Ginn

Annapurna Poduri

Alissa M. D’Gama

Rozalia Valentine

Sara K Trowbridge

Chaya N. Murali

Rachel Franciskovich

Yen Tran

Bryn D Webb

Kim M. Keppler-Noreuil

April L Hall

Bobbi McGivern

Kristin G Monaghan

Maria J Guillen Sacoto

Dustin Baldridge

Gary A. Silverman

Sonika Dahiya

Tychele N. Turner

Tim Schedl

Joshua G. Corbin

Stephen C Pak

Irene E. Zohn

Christina A. Gurnett

Show full list: 54 authors

Publication type: Journal Article

Publication date: 2025-03-01

Elsevier

Journal: American Journal of Human Genetics

scimago Q1

SJR: 4.516

CiteScore: 14.7

Impact factor: 8.1

ISSN: 00029297, 15376605

DOI: 10.1016/j.ajhg.2025.01.001

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TY - JOUR

DO - 10.1016/j.ajhg.2025.01.001

UR - https://linkinghub.elsevier.com/retrieve/pii/S0002929725000011

TI - Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

T2 - American Journal of Human Genetics

AU - Zerafati-Jahromi, Gazelle

AU - Oxman, Elias

AU - Hoang, Hieu D.

AU - Charng, Wu-Lin

AU - Kotla, Tanvitha

AU - Yuan, Weimin

AU - Ishibashi, Keito

AU - Sebaoui, Sonia

AU - Luedtke, Kathryn

AU - Winrow, Bryce

AU - Ganetzky, Rebecca D.

AU - Ruiz, Anna

AU - Manso-Basúz, Carmen

AU - Spataro, Nino

AU - Kannu, Peter

AU - Athey, Taryn

AU - Peroutka, Christina

AU - Barnes, Caitlin

AU - Sidlow, Richard

AU - Anadiotis, George

AU - Magnussen, Kari

AU - Valenzuela, Irene

AU - Moles-Fernandez, Alejandro

AU - Berger, Seth

AU - Grant, Christina L

AU - Vilain, Eric

AU - Arnadottir, Gudny A.

AU - Sulem, Patrick

AU - Sulem, Telma S.

AU - Stefansson, Kari

AU - Massey, Shavonne

AU - Ginn, Natalie

AU - Poduri, Annapurna

AU - D’Gama, Alissa M.

AU - Valentine, Rozalia

AU - Trowbridge, Sara K

AU - Murali, Chaya N.

AU - Franciskovich, Rachel

AU - Tran, Yen

AU - Webb, Bryn D

AU - Keppler-Noreuil, Kim M.

AU - Hall, April L

AU - McGivern, Bobbi

AU - Monaghan, Kristin G

AU - Guillen Sacoto, Maria J

AU - Baldridge, Dustin

AU - Silverman, Gary A.

AU - Dahiya, Sonika

AU - Turner, Tychele N.

AU - Schedl, Tim

AU - Corbin, Joshua G.

AU - Pak, Stephen C

AU - Zohn, Irene E.

AU - Gurnett, Christina A.

PY - 2025

DA - 2025/03/01

PB - Elsevier

SP - 537-553

IS - 3

VL - 112

SN - 0002-9297

SN - 1537-6605

ER -

BibTex | MLA

Found error?

Publisher

Elsevier

Journal

American Journal of Human Genetics

scimago Q1

SJR

4.516

CiteScore

14.7

Impact factor

8.1

ISSN

00029297 (Print)

15376605 (Electronic)