Publications:

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: 2909_2910del

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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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: 2911_2912delAG; Arg971Glufs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Bmc Medical Genetics

Antoniadi, Thalia T; Buxton, Chris C; Dennis, Gemma G; Forrester, Natalie N; Smith, Debbie D; Lunt, Peter P; Burton-Jones, Sarah S

Publication Date: 2015-09-21

Variant appearance in text: IGHMBP2: 2911_2912delAG; Arg971Glufs*4

PubMed Link: 26392352

Variant Present in the following documents:

• 12881_2015_224_MOESM3_ESM.xlsx, sheet 1

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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: 2911_2912delAG

PubMed Link: 25439726

Variant Present in the following documents:

• Main text

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