Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: CLPP: 661G>A; Glu221Lys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: CLPP: E221K; rs147589840

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Genome Medicine

Yépez, Vicente A VA; Gusic, Mirjana M; Kopajtich, Robert R; Mertes, Christian C; Smith, Nicholas H NH; Alston, Charlotte L CL; Ban, Rui R; Beblo, Skadi S; Berutti, Riccardo R; Blessing, Holger H; Ciara, Elżbieta E; Distelmaier, Felix F; Freisinger, Peter P; Häberle, Johannes J; Hayflick, Susan J SJ; Hempel, Maja M; Itkis, Yulia S YS; Kishita, Yoshihito Y; Klopstock, Thomas T; Krylova, Tatiana D TD; Lamperti, Costanza C; Lenz, Dominic D; Makowski, Christine C; Mosegaard, Signe S; Müller, Michaela F MF; Muñoz-Pujol, Gerard G; Nadel, Agnieszka A; Ohtake, Akira A; Okazaki, Yasushi Y; Procopio, Elena E; Schwarzmayr, Thomas T; Smet, Joél J; Staufner, Christian C; Stenton, Sarah L SL; Strom, Tim M TM; Terrile, Caterina C; Tort, Frederic F; Van Coster, Rudy R; Vanlander, Arnaud A; Wagner, Matias M; Xu, Manting M; Fang, Fang F; Ghezzi, Daniele D; Mayr, Johannes A JA; Piekutowska-Abramczuk, Dorota D; Ribes, Antonia A; Rötig, Agnès A; Taylor, Robert W RW; Wortmann, Saskia B SB; Murayama, Kei K; Meitinger, Thomas T; Gagneur, Julien J; Prokisch, Holger H

Publication Date: 2022-04-05

Variant appearance in text: CLPP: 661G>A; Glu221Lys

PubMed Link: 35379322

Variant Present in the following documents:

• 13073_2022_Article_1019.pdf
• 13073_2022_1019_MOESM1_ESM.xlsx, sheet 2
• 13073_2022_1019_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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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: CLPP: E221K; rs147589840

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

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: CLPP: E221K

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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Genetic diagnosis of Mendelian disorders via RNA sequencing.

Nature Communications

Kremer, Laura S LS; Bader, Daniel M DM; Mertes, Christian C; Kopajtich, Robert R; Pichler, Garwin G; Iuso, Arcangela A; Haack, Tobias B TB; Graf, Elisabeth E; Schwarzmayr, Thomas T; Terrile, Caterina C; Koňaříková, Eliška E; Repp, Birgit B; Kastenmüller, Gabi G; Adamski, Jerzy J; Lichtner, Peter P; Leonhardt, Christoph C; Funalot, Benoit B; Donati, Alice A; Tiranti, Valeria V; Lombes, Anne A; Jardel, Claude C; Gläser, Dieter D; Taylor, Robert W RW; Ghezzi, Daniele D; Mayr, Johannes A JA; Rötig, Agnes A; Freisinger, Peter P; Distelmaier, Felix F; Strom, Tim M TM; Meitinger, Thomas T; Gagneur, Julien J; Prokisch, Holger H

Publication Date: 2017-06-12

Variant appearance in text: CLPP: Glu221Lys

PubMed Link: 28604674

Variant Present in the following documents:

• Main text
• ncomms15824.pdf

View BVdb publication page

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