Publications:

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal Of Medical Genetics

Laquerriere, Annie A; Jaber, Dana D; Abiusi, Emanuela E; Maluenda, Jérome J; Mejlachowicz, Dan D; Vivanti, Alexandre A; Dieterich, Klaus K; Stoeva, Radka R; Quevarec, Loic L; Nolent, Flora F; Biancalana, Valerie V; Latour, Philippe P; Sternberg, Damien D; Capri, Yline Y; Verloes, Alain A; Bessieres, Bettina B; Loeuillet, Laurence L; Attie-Bitach, Tania T; Martinovic, Jelena J; Blesson, Sophie S; Petit, Florence F; Beneteau, Claire C; Whalen, Sandra S; Marguet, Florent F; Bouligand, Jerome J; Héron, Delphine D; Viot, Géraldine G; Amiel, Jeanne J; Amram, Daniel D; Bellesme, Céline C; Bucourt, Martine M; Faivre, Laurence L; Jouk, Pierre-Simon PS; Khung, Suonavy S; Sigaudy, Sabine S; Delezoide, Anne-Lise AL; Goldenberg, Alice A; Jacquemont, Marie-Line ML; Lambert, Laetitia L; Layet, Valérie V; Lyonnet, Stanislas S; Munnich, Arnold A; Van Maldergem, Lionel L; Piard, Juliette J; Guimiot, Fabien F; Landrieu, Pierre P; Letard, Pascaline P; Pelluard, Fanny F; Perrin, Laurence L; Saint-Frison, Marie-Hélène MH; Topaloglu, Haluk H; Trestard, Laetitia L; Vincent-Delorme, Catherine C; Amthor, Helge H; Barnerias, Christine C; Benachi, Alexandra A; Bieth, Eric E; Boucher, Elise E; Cormier-Daire, Valerie V; Delahaye-Duriez, Andrée A; Desguerre, Isabelle I; Eymard, Bruno B; Francannet, Christine C; Grotto, Sarah S; Lacombe, Didier D; Laffargue, Fanny F; Legendre, Marine M; Martin-Coignard, Dominique D; Mégarbané, André A; Mercier, Sandra S; Nizon, Mathilde M; Rigonnot, Luc L; Prieur, Fabienne F; Quélin, Chloé C; Ranjatoelina-Randrianaivo, Hanitra H; Resta, Nicoletta N; Toutain, Annick A; Verhelst, Helene H; Vincent, Marie M; Colin, Estelle E; Fallet-Bianco, Catherine C; Granier, Michèle M; Grigorescu, Romulus R; Saada, Julien J; Gonzales, Marie M; Guiochon-Mantel, Anne A; Bessereau, Jean-Louis JL; Tawk, Marcel M; Gut, Ivo I; Gitiaux, Cyril C; Melki, Judith J

Publication Date: 2022-06

Variant appearance in text: LGI4: 863G>A; Trp288*; rs775997446

PubMed Link: 33820833

Variant Present in the following documents:

• jmedgenet-2020-107595supp001.xlsx, sheet 1

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Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Genomics & Informatics

Yoon, Kyong-Ah KA; Woo, Sang Myung SM; Kim, Yun-Hee YH; Kong, Sun-Young SY; Han, Sung-Sik SS; Park, Sang-Jae SJ; Lee, Woo Jin WJ

Publication Date: 2018-12

Variant appearance in text: LGI4: 863G>A; W288*

PubMed Link: 30602096

Variant Present in the following documents:

• Main text
• gi-2018-16-4-e35.pdf

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Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

American Journal Of Human Genetics

Xue, Shifeng S; Maluenda, Jérôme J; Marguet, Florent F; Shboul, Mohammad M; Quevarec, Loïc L; Bonnard, Carine C; Ng, Alvin Yu Jin AY; Tohari, Sumanty S; Tan, Thong Teck TT; Kong, Mung Kei MK; Monaghan, Kristin G KG; Cho, Megan T MT; Siskind, Carly E CE; Sampson, Jacinda B JB; Rocha, Carolina Tesi CT; Alkazaleh, Fawaz F; Gonzales, Marie M; Rigonnot, Luc L; Whalen, Sandra S; Gut, Marta M; Gut, Ivo I; Bucourt, Martine M; Venkatesh, Byrappa B; Laquerrière, Annie A; Reversade, Bruno B; Melki, Judith J

Publication Date: 2017-04-06

Variant appearance in text: LGI4: 863G>A

PubMed Link: 28318499

Variant Present in the following documents:

• Main text

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