Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (vol 110, pg 120, 2023)

Maimuna S. Paul; Anna R. Duncan; Casie A. Genetti; Hongling Pan; Adam Jackson; Patricia E. Grant; Jiahai Shi; Michele Pinelli; Nicola Brunetti-Pierri; Alexandra Garza-Flores; Dave Shahani; Russell P. Saneto; Giuseppe Zampino; Chiara Leoni; Emanuele Agolini; Antonio Novelli; B. Ulrike Blumlein Tobias B. Haack; Wolfram Heinritz; Eva Matzker; Bader Alhaddad; Rami Abou Jamra; Tobias Bartolomaeus; Saber AlHamdan; Raphael Carapito; Bertrand Isidor; Seiamak Bahram; Alyssa Ritter; Kosuke Izumi; Ben Pode Shakked; Ortal Barel; Bruria Ben Zeev; Amber Begtrup; Deanna Alexis Carere; Sureni V. Mullegama; Timothy Blake Palculict; Daniel G. Calame; Katharina Schwan; Alicia R. P. Aycinena; Rasa Traberg; Sofia Douzgou; Harrison Pirt; Naila Ismayilova; Siddharth Banka; Hsiao-Tuan Chao; Pankaj B. Agrawal; Genomics England Research Consortium

doi:10.1016/j.ajhg.2023.02.010

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (vol 110, pg 120, 2023)

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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (vol 110, pg 120, 2023)

Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, Patricia E. Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, …

American journal of human genetics, Vol.110(3), pp.548-548

2023-03-02

DOI: https://doi.org/10.1016/j.ajhg.2023.02.010

PMID: 36868207

Appears in Miller School of Medicine - Latest Publications

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Genetics & Heredity

Life Sciences & Biomedicine

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Title: Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (vol 110, pg 120, 2023)
Creators: Maimuna S. Paul
Anna R. Duncan
Casie A. Genetti
Hongling Pan
Adam Jackson
Patricia E. Grant
Jiahai Shi
Michele Pinelli
Nicola Brunetti-Pierri
Alexandra Garza-Flores
Dave Shahani
Russell P. Saneto
Giuseppe Zampino
Chiara Leoni
Emanuele Agolini
Antonio Novelli
B. Ulrike Blumlein Tobias B. Haack
Wolfram Heinritz
Eva Matzker
Bader Alhaddad
Rami Abou Jamra
Tobias Bartolomaeus
Saber AlHamdan
Raphael Carapito
Bertrand Isidor
Seiamak Bahram
Alyssa Ritter
Kosuke Izumi
Ben Pode Shakked
Ortal Barel
Bruria Ben Zeev
Amber Begtrup
Deanna Alexis Carere
Sureni V. Mullegama
Timothy Blake Palculict
Daniel G. Calame
Katharina Schwan
Alicia R. P. Aycinena
Rasa Traberg
Sofia Douzgou
Harrison Pirt
Naila Ismayilova
Siddharth Banka
Hsiao-Tuan Chao
Pankaj B. Agrawal
Genomics England Research Consortium
Publication Details: American journal of human genetics, Vol.110(3), pp.548-548
Publisher: Elsevier
Number of pages: 1
Academic Unit: Miller School of Medicine; UMMG Dept of Pediatrics - Neonatology; UMMG Department of Pediatrics
Language: English
Resource Type: Journal article
PMID: 36868207
Record Identifier: 991032796062802976