Publications:

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: IGHMBP2: C496X; rs145226920

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: IGHMBP2: C496*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: IGHMBP2: C496X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Tolusso, Leandra K LK; Hazelton, Paige P; Wong, Beatrix B; Swarr, Daniel T DT

Publication Date: 2021-05

Variant appearance in text: IGHMBP2: 1488C>A; Cys496*

PubMed Link: 33442022

Variant Present in the following documents:

• Main text
• 41436_2020_Article_1067.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: IGHMBP2: 1488C>A; C496*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Crawford, Dana C DC; Lin, John J; Cooke Bailey, Jessica N JN; Kinzy, Tyler T; Sedor, John R JR; O'Toole, John F JF; Bush, William S WS

Publication Date: 2020

Variant appearance in text: rs145226920

PubMed Link: 31797629

Variant Present in the following documents:

• Main text
• nihms-1061500.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: IGHMBP2: 1488C>A; Cys496*; rs145226920

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.

Scientific Reports

Taskesen, E E; Mishra, A A; van der Sluis, S S; Ferrari, R R; , ; Veldink, J H JH; van Es, M A MA; Smit, A B AB; Posthuma, D D; Pijnenburg, Y Y

Publication Date: 2017-08-21

Variant appearance in text: rs145226920

PubMed Link: 28827549

Variant Present in the following documents:

• Main text

View BVdb publication page

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Infant Botulism in the Very Young Neonate: A Case Series.

Ajp Reports

Jackson, Laura L; Madan-Khetarpal, Suneeta S; Naik, Monica M; Michaels, Marian G MG; Riley, Melissa M

Publication Date: 2017-07

Variant appearance in text: IGHMBP2: Cys496X

PubMed Link: 28765793

Variant Present in the following documents:

• Main text
• 10-1055-s-0037-1604407.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: IGHMBP2: 1488C>A; Cys496Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.

Scientific Reports

Mantere, Tuomo T; Tervasmäki, Anna A; Nurmi, Anna A; Rapakko, Katrin K; Kauppila, Saila S; Tang, Jiangbo J; Schleutker, Johanna J; Kallioniemi, Anne A; Hartikainen, Jaana M JM; Mannermaa, Arto A; Nieminen, Pentti P; Hanhisalo, Riitta R; Lehto, Sini S; Suvanto, Maija M; Grip, Mervi M; Jukkola-Vuorinen, Arja A; Tengström, Maria M; Auvinen, Päivi P; Kvist, Anders A; Borg, Åke Å; Blomqvist, Carl C; Aittomäki, Kristiina K; Greenberg, Roger A RA; Winqvist, Robert R; Nevanlinna, Heli H; Pylkäs, Katri K

Publication Date: 2017-04-06

Variant appearance in text: IGHMBP2: 1488C>A; Cys496Ter; rs145226920

PubMed Link: 28386063

Variant Present in the following documents:

• 41598_2017_766_MOESM1_ESM.pdf

View BVdb publication page

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Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.

Plos Genetics

Mantere, Tuomo T; Winqvist, Robert R; Kauppila, Saila S; Grip, Mervi M; Jukkola-Vuorinen, Arja A; Tervasmäki, Anna A; Rapakko, Katrin K; Pylkäs, Katri K

Publication Date: 2016-01

Variant appearance in text: rs145226920

PubMed Link: 26820313

Variant Present in the following documents:

• pgen.1005816.s004.xlsx, sheet 1

View BVdb publication page

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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Cell Reports

Gonzaga-Jauregui, Claudia C; Harel, Tamar T; Gambin, Tomasz T; Kousi, Maria M; Griffin, Laurie B LB; Francescatto, Ludmila L; Ozes, Burcak B; Karaca, Ender E; Jhangiani, Shalini N SN; Bainbridge, Matthew N MN; Lawson, Kim S KS; Pehlivan, Davut D; Okamoto, Yuji Y; Withers, Marjorie M; Mancias, Pedro P; Slavotinek, Anne A; Reitnauer, Pamela J PJ; Goksungur, Meryem T MT; Shy, Michael M; Crawford, Thomas O TO; Koenig, Michel M; Willer, Jason J; Flores, Brittany N BN; Pediaditrakis, Igor I; Us, Onder O; Wiszniewski, Wojciech W; Parman, Yesim Y; Antonellis, Anthony A; Muzny, Donna M DM; , ; Katsanis, Nicholas N; Battaloglu, Esra E; Boerwinkle, Eric E; Gibbs, Richard A RA; Lupski, James R JR

Publication Date: 2015-08-18

Variant appearance in text: IGHMBP2: C496X

PubMed Link: 26257172

Variant Present in the following documents:

• Main text

View BVdb publication page

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Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

American Journal Of Human Genetics

Cottenie, Ellen E; Kochanski, Andrzej A; Jordanova, Albena A; Bansagi, Boglarka B; Zimon, Magdalena M; Horga, Alejandro A; Jaunmuktane, Zane Z; Saveri, Paola P; Rasic, Vedrana Milic VM; Baets, Jonathan J; Bartsakoulia, Marina M; Ploski, Rafal R; Teterycz, Pawel P; Nikolic, Milos M; Quinlivan, Ros R; Laura, Matilde M; Sweeney, Mary G MG; Taroni, Franco F; Lunn, Michael P MP; Moroni, Isabella I; Gonzalez, Michael M; Hanna, Michael G MG; Bettencourt, Conceicao C; Chabrol, Elodie E; Franke, Andre A; von Au, Katja K; Schilhabel, Markus M; Kabzińska, Dagmara D; Hausmanowa-Petrusewicz, Irena I; Brandner, Sebastian S; Lim, Siew Choo SC; Song, Haiwei H; Choi, Byung-Ok BO; Horvath, Rita R; Chung, Ki-Wha KW; Zuchner, Stephan S; Pareyson, Davide D; Harms, Matthew M; Reilly, Mary M MM; Houlden, Henry H

Publication Date: 2014-11-06

Variant appearance in text: IGHMBP2: 1488C>A

PubMed Link: 25439726

Variant Present in the following documents:

• Main text

View BVdb publication page

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