Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: N/A

PubMed Link: 36755093

Variant Present in the following documents:

View BVdb publication page

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Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: rs33964119

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

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Identification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only.

Frontiers In Cell And Developmental Biology

Machado, Renato Assis RA; Martelli-Junior, Hercílio H; Reis, Silvia Regina de Almeida SRA; Küchler, Erika Calvano EC; Scariot, Rafaela R; das Neves, Lucimara Teixeira LT; Coletta, Ricardo D RD

Publication Date: 2021

Variant appearance in text: rs33964119

PubMed Link: 34307341

Variant Present in the following documents:

• Main text
• fcell-09-638522.pdf

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High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype.

Cancers

Machlowska, Julita J; Kapusta, Przemysław P; Baj, Jacek J; Morsink, Folkert H M FHM; Wołkow, Paweł P; Maciejewski, Ryszard R; Offerhaus, G Johan A GJA; Sitarz, Robert R

Publication Date: 2020-07-21

Variant appearance in text: rs33964119

PubMed Link: 32708070

Variant Present in the following documents:

• cancers-12-01981-s001.pdf

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CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer.

Bmc Cancer

Bustos-Carpinteyro, Andrea Rebeca AR; Oliveira, Carla C; Sousa, Abel A; Oliveira, Patricia P; Pinheiro, Hugo H; Carvalho, Joana J; Magaña-Torres, María Teresa MT; Flores-Miramontes, María Guadalupe MG; Aguilar-Lemarroy, Adriana A; Jave-Suárez, Luis Felipe LF; Peregrina-Sandoval, Jorge J; Cruz-Ramos, José Alfonso JA; Sánchez-López, Josefina Yoaly JY

Publication Date: 2019-01-14

Variant appearance in text: CDH1: 2253C>A; rs33964119

PubMed Link: 30642281

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5294.pdf

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Characterizing Metastatic HER2-Positive Gastric Cancer at the CDH1 Haplotype.

International Journal Of Molecular Sciences

Caggiari, Laura L; Miolo, Gianmaria G; Buonadonna, Angela A; Basile, Debora D; Santeufemia, Davide A DA; Cossu, Antonio A; Palmieri, Giuseppe G; De Zorzi, Mariangela M; Fornasarig, Mara M; Alessandrini, Lara L; Canzonieri, Vincenzo V; Lo Re, Giovanni G; Puglisi, Fabio F; Steffan, Agostino A; Cannizzaro, Renato R; De Re, Valli V

Publication Date: 2017-12-23

Variant appearance in text: rs33964119

PubMed Link: 29295527

Variant Present in the following documents:

• Main text

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Association of genetic variants in and promoter hypermethylation of CDH1 with gastric cancer: a meta-analysis.

Medicine

Jing, Huiquan H; Dai, Fei F; Zhao, Chuntao C; Yang, Juan J; Li, Lizhuo L; Kota, Pravina P; Mao, Lijuan L; Xiang, Kaimin K; Zheng, Changqing C; Yang, Jingyun J

Publication Date: 2014-10

Variant appearance in text: rs33964119

PubMed Link: 25340495

Variant Present in the following documents:

• Main text
• medi-93-e107.pdf

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CDH1 polymorphisms and haplotypes in sporadic diffuse and intestinal gastric cancer: a case-control study based on direct sequencing analysis.

World Journal Of Surgical Oncology

Chu, Chi-Ming CM; Chen, Cheng-Jueng CJ; Chan, De-Chuan DC; Wu, Hurng-Sheng HS; Liu, Yao-Chi YC; Shen, Chen-Yang CY; Chang, Tzu-Ming TM; Yu, Jyh-Cherng JC; Harn, Horng-Jyh HJ; Yu, Cheng-Ping CP; Yang, Ming-Hsin MH

Publication Date: 2014-03-31

Variant appearance in text: rs33964119

PubMed Link: 24684952

Variant Present in the following documents:

• Main text

View BVdb publication page

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TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One

Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y

Publication Date: 2014

Variant appearance in text: rs33964119

PubMed Link: 24637876

Variant Present in the following documents:

• pone.0091598.s007.pdf

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Molecular and survival differences between familial and sporadic gastric cancers.

Biomed Research International

Fang, Wen-Liang WL; Chang, Shih-Ching SC; Lan, Yuan-Tzu YT; Huang, Kuo-Hung KH; Lo, Su-Shun SS; Li, Anna Fen-Yau AF; Chi, Chin-Wen CW; Wu, Chew-Wun CW; Chiou, Shih-Hwa SH

Publication Date: 2013

Variant appearance in text: rs33964119

PubMed Link: 23555086

Variant Present in the following documents:

• Main text
• BMRI2013-396272.pdf

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Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer.

Human Molecular Genetics

Pinheiro, Hugo H; Bordeira-Carriço, Renata R; Seixas, Susana S; Carvalho, Joana J; Senz, Janine J; Oliveira, Patrícia P; Inácio, Patrícia P; Gusmão, Leonor L; Rocha, Jorge J; Huntsman, David D; Seruca, Raquel R; Oliveira, Carla C

Publication Date: 2010-03-01

Variant appearance in text: rs33964119

PubMed Link: 19965908

Variant Present in the following documents:

• Main text

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