Publications:

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: N/A

PubMed Link: 36413997

Variant Present in the following documents:

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Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.

Frontiers In Immunology

Tabansky, Inna I; Tanaka, Akemi J AJ; Wang, Jiayao J; Zhang, Guanglan G; Dujmovic, Irena I; Mader, Simone S; Jeganathan, Venkatesh V; DeAngelis, Tracey T; Funaro, Michael M; Harel, Asaff A; Messina, Mark M; Shabbir, Maya M; Nursey, Vishaan V; DeGouvia, William W; Laurent, Micheline M; Blitz, Karen K; Jindra, Peter P; Gudesblatt, Mark M; , ; King, Alejandra A; Drulovic, Jelena J; Yunis, Edmond E; Brusic, Vladimir V; Shen, Yufeng Y; Keskin, Derin B DB; Najjar, Souhel S; Stern, Joel N H JNH

Publication Date: 2022

Variant appearance in text: POC1B: R106Q

PubMed Link: 36268024

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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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: POC1B: R106Q; rs76216585

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

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The Genomic and Immune Landscapes of Lethal Metastatic Breast Cancer.

Cell Reports

De Mattos-Arruda, Leticia L; Sammut, Stephen-John SJ; Ross, Edith M EM; Bashford-Rogers, Rachael R; Greenstein, Erez E; Markus, Havell H; Morganella, Sandro S; Teng, Yvonne Y; Maruvka, Yosef Y; Pereira, Bernard B; Rueda, Oscar M OM; Chin, Suet-Feung SF; Contente-Cuomo, Tania T; Mayor, Regina R; Arias, Alexandra A; Ali, H Raza HR; Cope, Wei W; Tiezzi, Daniel D; Dariush, Aliakbar A; Dias Amarante, Tauanne T; Reshef, Dan D; Ciriaco, Nikaoly N; Martinez-Saez, Elena E; Peg, Vicente V; Ramon Y Cajal, Santiago S; Cortes, Javier J; Vassiliou, George G; Getz, Gad G; Nik-Zainal, Serena S; Murtaza, Muhammed M; Friedman, Nir N; Markowetz, Florian F; Seoane, Joan J; Caldas, Carlos C

Publication Date: 2019-05-28

Variant appearance in text: POC1B: R106Q; rs76216585

PubMed Link: 31141692

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Mutation of POC1B in a severe syndromic retinal ciliopathy.

Human Mutation

Beck, Bodo B BB; Phillips, Jennifer B JB; Bartram, Malte P MP; Wegner, Jeremy J; Thoenes, Michaela M; Pannes, Andrea A; Sampson, Josephina J; Heller, Raoul R; Göbel, Heike H; Koerber, Friederike F; Neugebauer, Antje A; Hedergott, Andrea A; Nürnberg, Gudrun G; Nürnberg, Peter P; Thiele, Holger H; Altmüller, Janine J; Toliat, Mohammad R MR; Staubach, Simon S; Boycott, Kym M KM; Valente, Enza Maria EM; Janecke, Andreas R AR; Eisenberger, Tobias T; Bergmann, Carsten C; Tebbe, Lars L; Wang, Yang Y; Wu, Yundong Y; Fry, Andrew M AM; Westerfield, Monte M; Wolfrum, Uwe U; Bolz, Hanno J HJ

Publication Date: 2014-10

Variant appearance in text: POC1B: 317G>A; rs76216585

PubMed Link: 25044745

Variant Present in the following documents:

• Main text

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