Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly-Reference-Cited by-同舟云学术

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

Published:2022-10 Issue:10 Volume:109 Page:1909-1922
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Thomas Quentin,Motta Marialetizia,Gautier Thierry,Zaki Maha S.,Ciolfi Andrea,Paccaud Julien,Girodon François,Boespflug-Tanguy Odile,Besnard Thomas,Kerkhof Jennifer,McConkey Haley,Masson Aymeric,Denommé-Pichon Anne-Sophie,Cogné Benjamin,Trochu Eva,Vignard Virginie,El It Fatima,Rodan Lance H.,Alkhateeb Mohammad Ayman,Jamra Rami Abou,Duplomb Laurence,Tisserant Emilie,Duffourd Yannis,Bruel Ange-Line,Jackson Adam,Banka Siddharth,McEntagart Meriel,Saggar Anand,Gleeson Joseph G.,Sievert David,Bae Hyunwoo,Lee Beom Hee,Kwon Kisang,Seo Go Hun,Lee Hane,Saeed Anjum,Anjum Nadeem,Cheema Huma,Alawbathani Salem,Khan Imran,Pinto-Basto Jorge,Teoh Joyce,Wong Jasmine,Sahari Umar Bin Mohamad,Houlden Henry,Zhelcheska Kristina,Pannetier Melanie,Awad Mona A.,Lesieur-Sebellin Marion,Barcia Giulia,Amiel Jeanne,Delanne Julian,Philippe Christophe,Faivre Laurence,Odent Sylvie,Bertoli-Avella Aida,Thauvin Christel,Sadikovic Bekim,Reversade Bruno,Maroofian Reza,Govin Jérôme,Tartaglia Marco,Vitobello Antonio

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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1. Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5;Frontiers of Medicine;2023-10-14

2. A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity;neurogenetics;2023-09-05

3. Transmembrane protein 147, as a potential Sorafenib target, could expedite cell cycle process and confer adverse prognosis in hepatocellular carcinoma;Molecular Carcinogenesis;2023-05-22

4. OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants;Frontiers in Cell and Developmental Biology;2022-10-28