Publications:

The ABCs of the atypical Fam20 secretory pathway kinases.

The Journal Of Biological Chemistry

Worby, Carolyn A CA; Mayfield, Joshua E JE; Pollak, Adam J AJ; Dixon, Jack E JE; Banerjee, Sourav S

Publication Date: 2021

Variant appearance in text: FAM20A: A432T

PubMed Link: 33759783

Variant Present in the following documents:

• Main text

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: FAM20A: A432T

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.

Molecular Genetics & Genomic Medicine

Poulter, James A JA; Smith, Claire E L CE; Murrillo, Gina G; Silva, Sandra S; Feather, Sally S; Howell, Marianella M; Crinnion, Laura L; Bonthron, David T DT; Carr, Ian M IM; Watson, Christopher M CM; Inglehearn, Chris F CF; Mighell, Alan J AJ

Publication Date: 2015-11

Variant appearance in text: FAM20A: A432T

PubMed Link: 26740946

Variant Present in the following documents:

• Main text
• MGG3-3-543.pdf

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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Journal Of Medical Genetics

Prasad, Megana K MK; Geoffroy, Véronique V; Vicaire, Serge S; Jost, Bernard B; Dumas, Michael M; Le Gras, Stéphanie S; Switala, Marzena M; Gasse, Barbara B; Laugel-Haushalter, Virginie V; Paschaki, Marie M; Leheup, Bruno B; Droz, Dominique D; Dalstein, Amelie A; Loing, Adeline A; Grollemund, Bruno B; Muller-Bolla, Michèle M; Lopez-Cazaux, Séréna S; Minoux, Maryline M; Jung, Sophie S; Obry, Frédéric F; Vogt, Vincent V; Davideau, Jean-Luc JL; Davit-Beal, Tiphaine T; Kaiser, Anne-Sophie AS; Moog, Ute U; Richard, Béatrice B; Morrier, Jean-Jacques JJ; Duprez, Jean-Pierre JP; Odent, Sylvie S; Bailleul-Forestier, Isabelle I; Rousset, Monique Marie MM; Merametdijan, Laure L; Toutain, Annick A; Joseph, Clara C; Giuliano, Fabienne F; Dahlet, Jean-Christophe JC; Courval, Aymeric A; El Alloussi, Mustapha M; Laouina, Samir S; Soskin, Sylvie S; Guffon, Nathalie N; Dieux, Anne A; Doray, Bérénice B; Feierabend, Stephanie S; Ginglinger, Emmanuelle E; Fournier, Benjamin B; de la Dure Molla, Muriel M; Alembik, Yves Y; Tardieu, Corinne C; Clauss, François F; Berdal, Ariane A; Stoetzel, Corinne C; Manière, Marie Cécile MC; Dollfus, Hélène H; Bloch-Zupan, Agnès A

Publication Date: 2016-02

Variant appearance in text: FAM20A: A432T

PubMed Link: 26502894

Variant Present in the following documents:

• Main text
• jmedgenet-2015-103302.pdf

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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: FAM20A: A432T

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 22

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