Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly | Zendy

Quentin Thomas | Zendy; Marialetizia Motta | Zendy; Thierry Gautier | Zendy; Maha S. Zaki | Zendy; Andrea Ciolfi | Zendy; Julien Paccaud | Zendy; François Girodon | Zendy; Odile BoespflugTanguy | Zendy; Thomas Besnard | Zendy; Jennifer Kerkhof | Zendy; Haley McConkey | Zendy; Aymeric Masson | Zendy; AnneSophie DenomméPichon | Zendy; Benjamin Cogné | Zendy; Eva Trochu | Zendy; Virginie Vignard | Zendy; Fatima El It | Zendy; Lance H. Rodan | Zendy; Mohammad Ayman Alkhateeb | Zendy; Rami Abou Jamra | Zendy; Laurence Duplomb | Zendy; Émilie Tisserant | Zendy; Yannis Duffourd | Zendy; AngeLine Bruel | Zendy; Adam Jackson | Zendy; Siddharth Banka | Zendy; Meriel McEntagart | Zendy; Anand Saggar | Zendy; Joseph G. Gleeson | Zendy; David Sievert | Zendy; Hyunwoo Bae | Zendy; Beom Hee Lee | Zendy; Kisang Kwon | Zendy; Go Hun Seo | Zendy; Hane Lee | Zendy; Anjum Saeed | Zendy; Nadeem Anjum | Zendy; Huma Arshad Cheema | Zendy; Salem Alawbathani | Zendy; Imran Ali Khan | Zendy; Jorge PintoBasto | Zendy; Joyce Teoh | Zendy; Jasmine C. Wong | Zendy; Umar Bin Mohamad Sahari | Zendy; Henry Houlden | Zendy; Kristina Zhelcheska | Zendy; Mélanie Pannetier | Zendy; Mona A.M. Awad | Zendy; Marion LesieurSebellin | Zendy; Giulia Barcia | Zendy; Jeanne Amiel | Zendy; Julian Delanne | Zendy; Christophe Philippe | Zendy; Laurence Faivre | Zendy; Sylvie Odent | Zendy; Aida M. BertoliAvella | Zendy; Christel Thauvin | Zendy; Bekim Sadiković | Zendy; Bruno Reversade | Zendy; Reza Maroofian | Zendy; Jérôme Govin | Zendy; Marco Tartaglia | Zendy; Antonio Vitobello | Zendy

Open Access

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

Author(s) -

Quentin Thomas,

Marialetizia Motta,

Thierry Gautier,

Maha S. Zaki,

Andrea Ciolfi,

Julien Paccaud,

François Girodon,

Odile BoespflugTanguy,

Thomas Besnard,

Jennifer Kerkhof,

Haley McConkey,

Aymeric Masson,

AnneSophie DenomméPichon,

Benjamin Cogné,

Eva Trochu,

Virginie Vignard,

Fatima El It,

Lance H. Rodan,

Mohammad Ayman Alkhateeb,

Rami Abou Jamra,

Laurence Duplomb,

Émilie Tisserant,

Yannis Duffourd,

AngeLine Bruel,

Adam Jackson,

Siddharth Banka,

Meriel McEntagart,

Anand Saggar,

Joseph G. Gleeson,

David Sievert,

Hyunwoo Bae,

Beom Hee Lee,

Kisang Kwon,

Go Hun Seo,

Hane Lee,

Anjum Saeed,

Nadeem Anjum,

Huma Arshad Cheema,

Salem Alawbathani,

Imran Ali Khan,

Jorge PintoBasto,

Joyce Teoh,

Jasmine C. Wong,

Umar Bin Mohamad Sahari,

Henry Houlden,

Kristina Zhelcheska,

Mélanie Pannetier,

Mona A.M. Awad,

Marion LesieurSebellin,

Giulia Barcia,

Jeanne Amiel,

Julian Delanne,

Christophe Philippe,

Laurence Faivre,

Sylvie Odent,

Aida M. BertoliAvella,

Christel Thauvin,

Bekim Sadiković,

Bruno Reversade,

Reza Maroofian,

Jérôme Govin,

Marco Tartaglia,

Antonio Vitobello

Publication year - 2022

Publication title -

the american journal of human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.661

H-Index - 302

eISSN - 1537-6605

pISSN - 0002-9297

DOI - 10.1016/j.ajhg.2022.08.008

Subject(s) - biology , genetics , intellectual disability , frameshift mutation , loss function , translocon , microbiology and biotechnology , missense mutation , mutation , phenotype , gene , chromosomal translocation

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