Publications:

---

Kidney failure in Bardet-Biedl syndrome.

Clinical Genetics

Meyer, Jennifer R JR; Krentz, Anthony D AD; Berg, Richard L RL; Richardson, Jesse G JG; Pomeroy, Jeremy J; Hebbring, Scott J SJ; Haws, Robert M RM

Publication Date: 2022-04

Variant appearance in text: BBS: 1895G>C

PubMed Link: 35112343

Variant Present in the following documents:

• Main text
• CGE-101-429.pdf

View BVdb publication page

---

Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet-Biedl Syndrome.

Journal Of Ophthalmology

Huang, Li L; Sun, Limei L; Wang, Zhirong Z; Li, Songshan S; Chen, Chonglin C; Luo, Xiaoling X; Ding, Xiaoyan X

Publication Date: 2021

Variant appearance in text: BBS2: R632P

PubMed Link: 33520300

Variant Present in the following documents:

• Main text
• joph2021-6751857.pdf

View BVdb publication page

---

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: BBS2: R632P

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

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

Zampaglione, Erin E; Kinde, Benyam B; Place, Emily M EM; Navarro-Gomez, Daniel D; Maher, Matthew M; Jamshidi, Farzad F; Nassiri, Sherwin S; Mazzone, J Alex JA; Finn, Caitlin C; Schlegel, Dana D; Comander, Jason J; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-06

Variant appearance in text: BBS2: 1895G>C; Arg632Pro

PubMed Link: 32037395

Variant Present in the following documents:

• 41436_2020_759_MOESM2_ESM.xlsx, sheet 2

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: BBS2: 1895G>C; Arg632Pro

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

---

Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.

The Journal Of Biological Chemistry

Ludlam, W Grant WG; Aoba, Takuma T; Cuéllar, Jorge J; Bueno-Carrasco, M Teresa MT; Makaju, Aman A; Moody, James D JD; Franklin, Sarah S; Valpuesta, José M JM; Willardson, Barry M BM

Publication Date: 2019-11-01

Variant appearance in text: BBS: R632P

PubMed Link: 31530639

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Plos Genetics

Rivas, Manuel A MA; Avila, Brandon E BE; Koskela, Jukka J; Huang, Hailiang H; Stevens, Christine C; Pirinen, Matti M; Haritunians, Talin T; Neale, Benjamin M BM; Kurki, Mitja M; Ganna, Andrea A; Graham, Daniel D; Glaser, Benjamin B; Peter, Inga I; Atzmon, Gil G; Barzilai, Nir N; Levine, Adam P AP; Schiff, Elena E; Pontikos, Nikolas N; Weisburd, Ben B; Lek, Monkol M; Karczewski, Konrad J KJ; Bloom, Jonathan J; Minikel, Eric V EV; Petersen, Britt-Sabina BS; Beaugerie, Laurent L; Seksik, Philippe P; Cosnes, Jacques J; Schreiber, Stefan S; Bokemeyer, Bernd B; Bethge, Johannes J; , ; , ; , ; Heap, Graham G; Ahmad, Tariq T; Plagnol, Vincent V; Segal, Anthony W AW; Targan, Stephan S; Turner, Dan D; Saavalainen, Paivi P; Farkkila, Martti M; Kontula, Kimmo K; Palotie, Aarno A; Brant, Steven R SR; Duerr, Richard H RH; Silverberg, Mark S MS; Rioux, John D JD; Weersma, Rinse K RK; Franke, Andre A; Jostins, Luke L; Anderson, Carl A CA; Barrett, Jeffrey C JC; MacArthur, Daniel G DG; Jalas, Chaim C; Sokol, Harry H; Xavier, Ramnik J RJ; Pulver, Ann A; Cho, Judy H JH; McGovern, Dermot P B DPB; Daly, Mark J MJ

Publication Date: 2018-05

Variant appearance in text: BBS2: Arg632Pro

PubMed Link: 29795570

Variant Present in the following documents:

• Main text
• pgen.1007329.pdf

View BVdb publication page

---

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Clinical Genetics

Shi, L L; Webb, B D BD; Birch, A H AH; Elkhoury, L L; McCarthy, J J; Cai, X X; Oishi, K K; Mehta, L L; Diaz, G A GA; Edelmann, L L; Kornreich, R R

Publication Date: 2017-04

Variant appearance in text: BBS2: R632P

PubMed Link: 27415407

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: BBS2: 1895G>C; R632P

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

Bardet-Biedl Syndrome.

Molecular Syndromology

Suspitsin, Evgeny N EN; Imyanitov, Evgeny N EN

Publication Date: 2016-05

Variant appearance in text: BBS: 1895G>C

PubMed Link: 27385962

Variant Present in the following documents:

• Main text

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BBS2: R632P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

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

Consugar, Mark B MB; Navarro-Gomez, Daniel D; Place, Emily M EM; Bujakowska, Kinga M KM; Sousa, Maria E ME; Fonseca-Kelly, Zoë D ZD; Taub, Daniel G DG; Janessian, Maria M; Wang, Dan Yi DY; Au, Elizabeth D ED; Sims, Katherine B KB; Sweetser, David A DA; Fulton, Anne B AB; Liu, Qin Q; Wiggs, Janey L JL; Gai, Xiaowu X; Pierce, Eric A EA

Publication Date: 2015-04

Variant appearance in text: BBS2: 1895G>C; Arg632Pro

PubMed Link: 25412400

Variant Present in the following documents:

• NIHMS639026-supplement-Supplementary_Material_-_Table_S7_Excel.xls, sheet 1

View BVdb publication page

---

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Plos One

Watson, Christopher M CM; El-Asrag, Mohammed M; Parry, David A DA; Morgan, Joanne E JE; Logan, Clare V CV; Carr, Ian M IM; Sheridan, Eamonn E; Charlton, Ruth R; Johnson, Colin A CA; Taylor, Graham G; Toomes, Carmel C; McKibbin, Martin M; Inglehearn, Chris F CF; Ali, Manir M

Publication Date: 2014

Variant appearance in text: BBS2: R632P

PubMed Link: 25133751

Variant Present in the following documents:

• Main text
• pone.0104281.pdf
• pone.0104281.s001.pdf

View BVdb publication page

---

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Investigative Ophthalmology & Visual Science

Chen, Jianjun J; Smaoui, Nizar N; Hammer, Monia Ben Hamed MB; Jiao, Xiaodong X; Riazuddin, S Amer SA; Harper, Shyana S; Katsanis, Nicholas N; Riazuddin, Sheikh S; Chaabouni, Habiba H; Berson, Eliot L EL; Hejtmancik, J Fielding JF

Publication Date: 2011-07-18

Variant appearance in text: BBS: 1895G>C

PubMed Link: 21642631

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

European Journal Of Human Genetics : Ejhg

Pereiro, Ines I; Hoskins, Bethan E BE; Marshall, Jan D JD; Collin, Gayle B GB; Naggert, Jürgen K JK; Piñeiro-Gallego, Teresa T; Oitmaa, Eneli E; Katsanis, Nicholas N; Valverde, Diana D; Beales, Philip L PL

Publication Date: 2011-04

Variant appearance in text: BBS: 1895G>C

PubMed Link: 21157496

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Human Genetics

Janssen, Sabine S; Ramaswami, Gokul G; Davis, Erica E EE; Hurd, Toby T; Airik, Rannar R; Kasanuki, Jennifer M JM; Van Der Kraak, Lauren L; Allen, Susan J SJ; Beales, Philip L PL; Katsanis, Nicholas N; Otto, Edgar A EA; Hildebrandt, Friedhelm F

Publication Date: 2011-01

Variant appearance in text: BBS: 1895G>C

PubMed Link: 21052717

Variant Present in the following documents:

• Main text

View BVdb publication page

---