Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: AHI1: 2174G>A; Trp725Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_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: AHI1: W725X; rs587783013

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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Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Genes

Moon, Dabin D; Park, Hye Won HW; Surl, Dongheon D; Won, Dongju D; Lee, Seung-Tae ST; Shin, Saeam S; Choi, Jong Rak JR; Han, Jinu J

Publication Date: 2021-12-23

Variant appearance in text: AHI1: 2174G>A; Trp725*

PubMed Link: 35052368

Variant Present in the following documents:

• Main text
• genes-13-00027.pdf

View BVdb publication page

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Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Genes

Moon, Dabin D; Park, Hye Won HW; Surl, Dongheon D; Won, Dongju D; Lee, Seung-Tae ST; Shin, Saeam S; Choi, Jong Rak JR; Han, Jinu J

Publication Date: 2021-12-23

Variant appearance in text: AHI1: 2174G>A; Trp725*

PubMed Link: 35052368

Variant Present in the following documents:

• Main text
• genes-13-00027.pdf

View BVdb publication page

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Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Bmc Medical Genomics

Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG

Publication Date: 2021-03-10

Variant appearance in text: AHI1: W725X

PubMed Link: 33691693

Variant Present in the following documents:

• 12920_2021_874_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.

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

Phelps, Ian G IG; Dempsey, Jennifer C JC; Grout, Megan E ME; Isabella, Christine R CR; Tully, Hannah M HM; Doherty, Dan D; Bachmann-Gagescu, Ruxandra R

Publication Date: 2018-02

Variant appearance in text: N/A

PubMed Link: 28771248

Variant Present in the following documents:

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: AHI1: 2174G>A; Trp725Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics

Nguyen, Thanh-Minh T TT; Hull, Sarah S; Roepman, Ronald R; van den Born, L Ingeborgh LI; Oud, Machteld M MM; de Vrieze, Erik E; Hetterschijt, Lisette L; Letteboer, Stef J F SJF; van Beersum, Sylvia E C SEC; Blokland, Ellen A EA; Yntema, Helger G HG; Cremers, Frans P M FPM; van der Zwaag, Paul A PA; Arno, Gavin G; van Wijk, Erwin E; Webster, Andrew R AR; Haer-Wigman, Lonneke L

Publication Date: 2017-09

Variant appearance in text: AHI1: 2174G>A; Trp725*

PubMed Link: 28442542

Variant Present in the following documents:

• Main text
• jmedgenet-2016-104200.pdf

View BVdb publication page

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

European Journal Of Human Genetics : Ejhg

Haer-Wigman, Lonneke L; van Zelst-Stams, Wendy Ag WA; Pfundt, Rolph R; van den Born, L Ingeborgh LI; Klaver, Caroline Cw CC; Verheij, Joke Bgm JB; Hoyng, Carel B CB; Breuning, Martijn H MH; Boon, Camiel Jf CJ; Kievit, Anneke J AJ; Verhoeven, Virginie Jm VJ; Pott, Jan Wr JW; Sallevelt, Suzanne Ceh SC; van Hagen, Johanna M JM; Plomp, Astrid S AS; Kroes, Hester Y HY; Lelieveld, Stefan H SH; Hehir-Kwa, Jayne Y JY; Castelein, Steven S; Nelen, Marcel M; Scheffer, Hans H; Lugtenberg, Dorien D; Cremers, Frans Pm FP; Hoefsloot, Lies L; Yntema, Helger G HG

Publication Date: 2017-05

Variant appearance in text: AHI1: 2174G>A; Trp725*

PubMed Link: 28224992

Variant Present in the following documents:

• ejhg20179x6.xlsx, sheet 1

View BVdb publication page

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