Publications:

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.

Frontiers In Genetics

Park, Soojin S; Jang, Se Song SS; Lee, Seungbok S; Kim, Minsoo M; Sim, Hyungtai H; Jeon, Hyeongseok H; Hong, Sung Eun SE; Lee, Jean J; Lee, Jeongeun J; Jeon, Eun Young EY; Lee, Jeongha J; Lee, Cho-Rong CR; Kim, Soo Yeon SY; Kim, Man Jin MJ; Yoon, Jihoon G JG; Lim, Byung Chan BC; Kim, Woo Joong WJ; Kim, Ki Joong KJ; Ko, Jung Min JM; Cho, Anna A; Lee, Jin Sook JS; Choi, Murim M; Chae, Jong-Hee JH

Publication Date: 2022

Variant appearance in text: SPTBN2: 944C>T; S315L

PubMed Link: 36212160

Variant Present in the following documents:

• DataSheet2.xlsx, sheet 2

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Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.

Frontiers In Genetics

Tripolszki, Kornélia K; Gampawar, Piyush P; Schmidt, Helena H; Nagy, Zsófia F ZF; Nagy, Dóra D; Klivényi, Péter P; Engelhardt, József I JI; Széll, Márta M

Publication Date: 2019

Variant appearance in text: SPTBN2: S315L; rs1373892107

PubMed Link: 31475037

Variant Present in the following documents:

• DataSheet_1.pdf

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Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.

Plos Medicine

Lefebvre, Celine C; Bachelot, Thomas T; Filleron, Thomas T; Pedrero, Marion M; Campone, Mario M; Soria, Jean-Charles JC; Massard, Christophe C; Lévy, Christelle C; Arnedos, Monica M; Lacroix-Triki, Magali M; Garrabey, Julie J; Boursin, Yannick Y; Deloger, Marc M; Fu, Yu Y; Commo, Frédéric F; Scott, Véronique V; Lacroix, Ludovic L; Dieci, Maria Vittoria MV; Kamal, Maud M; Diéras, Véronique V; Gonçalves, Anthony A; Ferrerro, Jean-Marc JM; Romieu, Gilles G; Vanlemmens, Laurence L; Mouret Reynier, Marie-Ange MA; Théry, Jean-Christophe JC; Le Du, Fanny F; Guiu, Séverine S; Dalenc, Florence F; Clapisson, Gilles G; Bonnefoi, Hervé H; Jimenez, Marta M; Le Tourneau, Christophe C; André, Fabrice F

Publication Date: 2016-12

Variant appearance in text: SPTBN2: Ser315Leu

PubMed Link: 28027327

Variant Present in the following documents:

• pmed.1002201.s012.xlsx, sheet 1

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