Publications:

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Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Journal Of Nephrology

Zacchia, Miriam M; Blanco, Francesca Del Vecchio FDV; Trepiccione, Francesco F; Blasio, Giancarlo G; Torella, Annalaura A; Melluso, Andrea A; Capolongo, Giovanna G; Pollastro, Rosa Maria RM; Piluso, Giulio G; Di Iorio, Valentina V; Simonelli, Francesca F; Viggiano, Davide D; Perna, Alessandra A; Nigro, Vincenzo V; Capasso, Giovambattista G

Publication Date: 2021-12

Variant appearance in text: BBS: A504V

PubMed Link: 33964006

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.

Obesity (Silver Spring, Md.)

Day, Samantha E SE; Muller, Yunhua L YL; Koroglu, Cigdem C; Kobes, Sayuko S; Wiedrich, Kim K; Mahkee, Darin D; Kim, Hye In HI; Van Hout, Cris C; Gosalia, Nehal N; Ye, Bin B; , ; Shuldiner, Alan R AR; Knowler, William C WC; Hanson, Robert L RL; Bogardus, Clifton C; Baier, Leslie J LJ

Publication Date: 2021-04

Variant appearance in text: BBS: A504V; rs16957538

PubMed Link: 33616283

Variant Present in the following documents:

• OBY-29-748-s001.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: BBS2: 1511C>T; Ala504Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: BBS2: 1511C>T; Ala504Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: BBS2: A504V; rs16957538

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1
• srep30457-s2.xls, sheet 4
• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 3

View BVdb publication page

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De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Plos Genetics

Priest, James R JR; Osoegawa, Kazutoyo K; Mohammed, Nebil N; Nanda, Vivek V; Kundu, Ramendra R; Schultz, Kathleen K; Lammer, Edward J EJ; Girirajan, Santhosh S; Scheetz, Todd T; Waggott, Daryl D; Haddad, Francois F; Reddy, Sushma S; Bernstein, Daniel D; Burns, Trudy T; Steimle, Jeffrey D JD; Yang, Xinan H XH; Moskowitz, Ivan P IP; Hurles, Matthew M; Lifton, Richard P RP; Nickerson, Debbie D; Bamshad, Michael M; Eichler, Evan E EE; Mital, Seema S; Sheffield, Val V; Quertermous, Thomas T; Gelb, Bruce D BD; Portman, Michael M; Ashley, Euan A EA

Publication Date: 2016-04

Variant appearance in text: BBS2: A504V

PubMed Link: 27058611

Variant Present in the following documents:

• Main text
• pgen.1005963.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: BBS2: A504V; rs16957538

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: A504V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: BBS2: A504V; rs16957538

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

American Journal Of Human Genetics

Mykytyn, Kirk K; Nishimura, Darryl Y DY; Searby, Charles C CC; Beck, Gretel G; Bugge, Kevin K; Haines, Heidi L HL; Cornier, Alberto S AS; Cox, Gerald F GF; Fulton, Anne B AB; Carmi, Rivka R; Iannaccone, Alessandro A; Jacobson, Samuel G SG; Weleber, Richard G RG; Wright, Alan F AF; Riise, Ruth R; Hennekam, Raoul C M RC; Lüleci, Güven G; Berker-Karauzum, Sibel S; Biesecker, Leslie G LG; Stone, Edwin M EM; Sheffield, Val C VC

Publication Date: 2003-02

Variant appearance in text: BBS: A504V

PubMed Link: 12524598

Variant Present in the following documents:

• Main text

View BVdb publication page

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