Publications:

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular Genetics & Genomic Medicine

Tran Mau-Them, Frederic F; Duffourd, Yannis Y; Vitobello, Antonio A; Bruel, Ange-Line AL; Denommé-Pichon, Anne-Sophie AS; Nambot, Sophie S; Delanne, Julian J; Moutton, Sebastien S; Sorlin, Arthur A; , ; Couturier, Victor V; Bourgeois, Valentin V; Chevarin, Martin M; Poe, Charlotte C; Mosca-Boidron, Anne-Laure AL; Callier, Patrick P; Safraou, Hana H; Faivre, Laurence L; Philippe, Christophe C; Thauvin-Robinet, Christel C

Publication Date: 2021-12

Variant appearance in text: RET: 1879+1G>A

PubMed Link: 34716697

Variant Present in the following documents:

• MGG3-9-e1836-s002.xlsx, sheet 1

View BVdb publication page

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Molecular Genetics & Genomic Medicine

Tran Mau-Them, Frederic F; Duffourd, Yannis Y; Vitobello, Antonio A; Bruel, Ange-Line AL; Denommé-Pichon, Anne-Sophie AS; Nambot, Sophie S; Delanne, Julian J; Moutton, Sebastien S; Sorlin, Arthur A; , ; Couturier, Victor V; Bourgeois, Valentin V; Chevarin, Martin M; Poe, Charlotte C; Mosca-Boidron, Anne-Laure AL; Callier, Patrick P; Safraou, Hana H; Faivre, Laurence L; Philippe, Christophe C; Thauvin-Robinet, Christel C

Publication Date: 2021-10-30

Variant appearance in text: RET: 1879+1G>A

PubMed Link: 34716697

Variant Present in the following documents:

• MGG3-9-e1836-s002.xlsx, sheet 1

View BVdb publication page

Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.

Journal Of Human Genetics

Carter, Tonia C TC; Kay, Denise M DM; Browne, Marilyn L ML; Liu, Aiyi A; Romitti, Paul A PA; Kuehn, Devon D; Conley, Mary R MR; Caggana, Michele M; Druschel, Charlotte M CM; Brody, Lawrence C LC; Mills, James L JL

Publication Date: 2012-08

Variant appearance in text: RET: 1879+1G>A

PubMed Link: 22648184

Variant Present in the following documents:

• Main text

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