Publications:

Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity.

Frontiers In Immunology

Papadatou, Ioanna I; Marinakis, Nikolaos N; Botsa, Evanthia E; Tzanoudaki, Marianna M; Kanariou, Maria M; Orfanou, Irene I; Kanaka-Gantenbein, Christina C; Traeger-Synodinos, Joanne J; Spoulou, Vana V

Publication Date: 2021

Variant appearance in text: TMC8: 1168G>A; V390I; rs150546646

PubMed Link: 33679784

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: rs150546646

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: TMC8: V390I; rs150546646

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: TMC8: V390I

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 9

View BVdb publication page