Publications:

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: EPHB2: 2531G>A; R844Q

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nature Communications

Wang, Tianyun T; Hoekzema, Kendra K; Vecchio, Davide D; Wu, Huidan H; Sulovari, Arvis A; Coe, Bradley P BP; Gillentine, Madelyn A MA; Wilfert, Amy B AB; Perez-Jurado, Luis A LA; Kvarnung, Malin M; Sleyp, Yoeri Y; Earl, Rachel K RK; Rosenfeld, Jill A JA; Geisheker, Madeleine R MR; Han, Lin L; Du, Bing B; Barnett, Chris C; Thompson, Elizabeth E; Shaw, Marie M; Carroll, Renee R; Friend, Kathryn K; Catford, Rachael R; Palmer, Elizabeth E EE; Zou, Xiaobing X; Ou, Jianjun J; Li, Honghui H; Guo, Hui H; Gerdts, Jennifer J; Avola, Emanuela E; Calabrese, Giuseppe G; Elia, Maurizio M; Greco, Donatella D; Lindstrand, Anna A; Nordgren, Ann A; Anderlid, Britt-Marie BM; Vandeweyer, Geert G; Van Dijck, Anke A; Van der Aa, Nathalie N; McKenna, Brooke B; Hancarova, Miroslava M; Bendova, Sarka S; Havlovicova, Marketa M; Malerba, Giovanni G; Bernardina, Bernardo Dalla BD; Muglia, Pierandrea P; van Haeringen, Arie A; Hoffer, Mariette J V MJV; Franke, Barbara B; Cappuccio, Gerarda G; Delatycki, Martin M; Lockhart, Paul J PJ; Manning, Melanie A MA; Liu, Pengfei P; Scheffer, Ingrid E IE; Brunetti-Pierri, Nicola N; Rommelse, Nanda N; Amaral, David G DG; Santen, Gijs W E GWE; Trabetti, Elisabetta E; Sedláček, Zdeněk Z; Michaelson, Jacob J JJ; Pierce, Karen K; Courchesne, Eric E; Kooy, R Frank RF; , ; Nordenskjöld, Magnus M; Romano, Corrado C; Peeters, Hilde H; Bernier, Raphael A RA; Gecz, Jozef J; Xia, Kun K; Eichler, Evan E EE

Publication Date: 2020-10-01

Variant appearance in text: EPHB2: 2531G>A; Arg844Gln

PubMed Link: 33004838

Variant Present in the following documents:

• 41467_2020_18723_MOESM5_ESM.xlsx, sheet 1
• 41467_2020_18723_MOESM8_ESM.xlsx, sheet 1
• 41467_2020_18723_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: EPHB2: 2531G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Developing Organoids from Ovarian Cancer as Experimental and Preclinical Models.

Stem Cell Reports

Maenhoudt, Nina N; Defraye, Charlotte C; Boretto, Matteo M; Jan, Ziga Z; Heremans, Ruben R; Boeckx, Bram B; Hermans, Florian F; Arijs, Ingrid I; Cox, Benoit B; Van Nieuwenhuysen, Els E; Vergote, Ignace I; Van Rompuy, Anne-Sophie AS; Lambrechts, Diether D; Timmerman, Dirk D; Vankelecom, Hugo H

Publication Date: 2020-04-14

Variant appearance in text: EPHB2: R844Q

PubMed Link: 32243841

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Molecular Autism

Guo, Hui H; Wang, Tianyun T; Wu, Huidan H; Long, Min M; Coe, Bradley P BP; Li, Honghui H; Xun, Guanglei G; Ou, Jianjun J; Chen, Biyuan B; Duan, Guiqin G; Bai, Ting T; Zhao, Ningxia N; Shen, Yidong Y; Li, Yun Y; Wang, Yazhe Y; Zhang, Yu Y; Baker, Carl C; Liu, Yanling Y; Pang, Nan N; Huang, Lian L; Han, Lin L; Jia, Xiangbin X; Liu, Cenying C; Ni, Hailun H; Yang, Xinyi X; Xia, Lu L; Chen, Jingjing J; Shen, Lu L; Li, Ying Y; Zhao, Rongjuan R; Zhao, Wenjing W; Peng, Jing J; Pan, Qian Q; Long, Zhigao Z; Su, Wei W; Tan, Jieqiong J; Du, Xiaogang X; Ke, Xiaoyan X; Yao, Meiling M; Hu, Zhengmao Z; Zou, Xiaobing X; Zhao, Jingping J; Bernier, Raphael A RA; Eichler, Evan E EE; Xia, Kun K

Publication Date: 2018

Variant appearance in text: EPHB2: R844Q

PubMed Link: 30564305

Variant Present in the following documents:

• 13229_2018_247_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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De novo genic mutations among a Chinese autism spectrum disorder cohort.

Nature Communications

Wang, Tianyun T; Guo, Hui H; Xiong, Bo B; Stessman, Holly A F HA; Wu, Huidan H; Coe, Bradley P BP; Turner, Tychele N TN; Liu, Yanling Y; Zhao, Wenjing W; Hoekzema, Kendra K; Vives, Laura L; Xia, Lu L; Tang, Meina M; Ou, Jianjun J; Chen, Biyuan B; Shen, Yidong Y; Xun, Guanglei G; Long, Min M; Lin, Janice J; Kronenberg, Zev N ZN; Peng, Yu Y; Bai, Ting T; Li, Honghui H; Ke, Xiaoyan X; Hu, Zhengmao Z; Zhao, Jingping J; Zou, Xiaobing X; Xia, Kun K; Eichler, Evan E EE

Publication Date: 2016-11-08

Variant appearance in text: EPHB2: 2531G>A; Arg844Gln

PubMed Link: 27824329

Variant Present in the following documents:

• ncomms13316-s5.xlsx, sheet 1

View BVdb publication page

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