Publications:

---

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: CSMD1: 1915G>A; Ala639Thr

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

---

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics

Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M

Publication Date: 2021-11-21

Variant appearance in text: CSMD1: A639T; rs779494957

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

Nature Communications

George, Julie J; Walter, Vonn V; Peifer, Martin M; Alexandrov, Ludmil B LB; Seidel, Danila D; Leenders, Frauke F; Maas, Lukas L; Müller, Christian C; Dahmen, Ilona I; Delhomme, Tiffany M TM; Ardin, Maude M; Leblay, Noemie N; Byrnes, Graham G; Sun, Ruping R; De Reynies, Aurélien A; McLeer-Florin, Anne A; Bosco, Graziella G; Malchers, Florian F; Menon, Roopika R; Altmüller, Janine J; Becker, Christian C; Nürnberg, Peter P; Achter, Viktor V; Lang, Ulrich U; Schneider, Peter M PM; Bogus, Magdalena M; Soloway, Matthew G MG; Wilkerson, Matthew D MD; Cun, Yupeng Y; McKay, James D JD; Moro-Sibilot, Denis D; Brambilla, Christian G CG; Lantuejoul, Sylvie S; Lemaitre, Nicolas N; Soltermann, Alex A; Weder, Walter W; Tischler, Verena V; Brustugun, Odd Terje OT; Lund-Iversen, Marius M; Helland, Åslaug Å; Solberg, Steinar S; Ansén, Sascha S; Wright, Gavin G; Solomon, Benjamin B; Roz, Luca L; Pastorino, Ugo U; Petersen, Iver I; Clement, Joachim H JH; Sänger, Jörg J; Wolf, Jürgen J; Vingron, Martin M; Zander, Thomas T; Perner, Sven S; Travis, William D WD; Haas, Stefan A SA; Olivier, Magali M; Foll, Matthieu M; Büttner, Reinhard R; Hayes, David Neil DN; Brambilla, Elisabeth E; Fernandez-Cuesta, Lynnette L; Thomas, Roman K RK

Publication Date: 2018-03-13

Variant appearance in text: CSMD1: 1915G>A; A639T

PubMed Link: 29535388

Variant Present in the following documents:

• 41467_2018_3099_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: CSMD1: 1915G>A; Ala639Thr

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-3.xlsx, sheet 1

View BVdb publication page

---

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: CSMD1: A639T

PubMed Link: 27824329

Variant Present in the following documents:

• ncomms13316-s7.xlsx, sheet 1

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CSMD1: 1915G>A; A639T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

---

Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: CSMD1: A639T

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

---

Somatic mutations, allele loss, and DNA methylation of the Cub and Sushi Multiple Domains 1 (CSMD1) gene reveals association with early age of diagnosis in colorectal cancer patients.

Plos One

Shull, Austin Y AY; Clendenning, Megan L ML; Ghoshal-Gupta, Sampa S; Farrell, Christopher L CL; Vangapandu, Hima V HV; Dudas, Larry L; Wilkerson, Brent J BJ; Buckhaults, Phillip J PJ

Publication Date: 2013

Variant appearance in text: CSMD1: Ala639Thr

PubMed Link: 23505554

Variant Present in the following documents:

• Main text
• pone.0058731.pdf

View BVdb publication page

---