Publications:

---

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: CYP1B1: 1064_1076del; Arg355fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: CYP1B1: 1064_1076del; rs72549380

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

---

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.

Translational Vision Science & Technology

Lang, Elena E; Koller, Samuel S; Bähr, Luzy L; Töteberg-Harms, Marc M; Atac, David D; Roulez, Françoise F; Bahr, Angela A; Steindl, Katharina K; Feil, Silke S; Berger, Wolfgang W; Gerth-Kahlert, Christina C

Publication Date: 2020-06

Variant appearance in text: CYP1B1: 1064_1076del

PubMed Link: 32832252

Variant Present in the following documents:

• tvst-9-7-47_s002.pdf

View BVdb publication page

---

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: CYP1B1: 1064_1076delGAGTGCAGGCAGA; Arg355fs

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

---

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: CYP1B1: 1064_1076delGAGTGCAGGCAGA; Arg355fs; rs72549380

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

Novel candidates in early-onset familial colorectal cancer.

Familial Cancer

Jansen, Anne M L AML; Ghosh, Pradipta P; Dakal, Tikam C TC; Slavin, Thomas P TP; Boland, C Richard CR; Goel, Ajay A

Publication Date: 2020-01

Variant appearance in text: CYP1B1: 1064_1076del; R355Hfs

PubMed Link: 31555933

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: CYP1B1: 1064_1076del; R355fs; rs72549380

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

European Journal Of Human Genetics : Ejhg

Yu-Wai-Man, Cynthia C; Arno, Gavin G; Brookes, John J; Garcia-Feijoo, Julian J; Khaw, Peng Tee PT; Moosajee, Mariya M

Publication Date: 2018-11

Variant appearance in text: CYP1B1: 1064_1076del; R355Hfs*69

PubMed Link: 30089822

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.

Journal Of Pediatric Genetics

Chouiter, Leila L; Nadifi, Sellama S

Publication Date: 2017-12

Variant appearance in text: CYP1B1: 1064_1076delGAGTGCAGGCAGA

PubMed Link: 29142762

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

Molecular Vision

Reis, Linda M LM; Tyler, Rebecca C RC; Weh, Eric E; Hendee, Kathryn E KE; Kariminejad, Ariana A; Abdul-Rahman, Omar O; Ben-Omran, Tawfeg T; Manning, Melanie A MA; Yesilyurt, Ahmet A; McCarty, Catherine A CA; Kitchner, Terrie E TE; Costakos, Deborah D; Semina, Elena V EV

Publication Date: 2016

Variant appearance in text: CYP1B1: 1064_1076del; Arg355Hisfs*69

PubMed Link: 27777502

Variant Present in the following documents:

• Main text
• mv-v22-1229.pdf

View BVdb publication page

---

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Molecular Vision

Millá, Elena E; Mañé, Begoña B; Duch, Susana S; Hernan, Imma I; Borràs, Emma E; Planas, Ester E; Dias, Miguel de Sousa Mde S; Carballo, Miguel M; Gamundi, María José MJ; ,

Publication Date: 2013

Variant appearance in text: CYP1B1: 1064_1076del

PubMed Link: 23922489

Variant Present in the following documents:

• mv-v19-1707.pdf

View BVdb publication page

---

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

American Journal Of Ophthalmology

Lim, Sing-Hui SH; Tran-Viet, Khanh-Nhat KN; Yanovitch, Tammy L TL; Freedman, Sharon F SF; Klemm, Thomas T; Call, Whitney W; Powell, Caldwell C; Ravichandran, Ajay A; Metlapally, Ravikanth R; Nading, Erica B EB; Rozen, Steve S; Young, Terri L TL

Publication Date: 2013-03

Variant appearance in text: CYP1B1: 1064_1076delGAGTGCAGGCAGA; rs72549380

PubMed Link: 23218701

Variant Present in the following documents:

• Main text

View BVdb publication page

---