Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: FMR1: R138R

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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EpiMOGA: An Epistasis Detection Method Based on a Multi-Objective Genetic Algorithm.

Genes

Chen, Yuanyuan Y; Xu, Fengjiao F; Pian, Cong C; Xu, Mingmin M; Kong, Lingpeng L; Fang, Jingya J; Li, Zutan Z; Zhang, Liangyun L

Publication Date: 2021-01-28

Variant appearance in text: rs25707

PubMed Link: 33525573

Variant Present in the following documents:

• Main text
• genes-12-00191.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: FMR1: R138R; rs25707

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine

Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA

Publication Date: 2018-09

Variant appearance in text: FMR1: R138R; rs25707

PubMed Link: 30008175

Variant Present in the following documents:

• MGG3-6-749-s004.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: FMR1: Arg138=

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: FMR1: R138R; rs25707

PubMed Link: 27456059

Variant Present in the following documents:

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

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: FMR1: R138R; rs25707

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

Neuromuscular Disorders : Nmd

Pierson, Tyler Mark TM; Markello, Thomas T; Accardi, John J; Wolfe, Lynne L; Adams, David D; Sincan, Murat M; Tarazi, Noor M NM; Fajardo, Karin Fuentes KF; Cherukuri, Praveen F PF; Bajraktari, Ilda I; Meilleur, Katy G KG; Donkervoort, Sandra S; Jain, Mina M; Hu, Ying Y; Lehky, Tanya J TJ; Cruz, Pedro P; Mullikin, James C JC; Bonnemann, Carsten C; Gahl, William A WA; Boerkoel, Cornelius F CF; Tifft, Cynthia J CJ

Publication Date: 2013-06

Variant appearance in text: rs25707

PubMed Link: 23453856

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One

Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D

Publication Date: 2012

Variant appearance in text: FMR1: 414G>A

PubMed Link: 22558107

Variant Present in the following documents:

• pone.0035003.s004.pdf

View BVdb publication page

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Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

Plos One

Collins, Stephen C SC; Coffee, Brad B; Benke, Paul J PJ; Berry-Kravis, Elizabeth E; Gilbert, Fred F; Oostra, Ben B; Halley, Dicky D; Zwick, Michael E ME; Cutler, David J DJ; Warren, Stephen T ST

Publication Date: 2010-03-05

Variant appearance in text: rs25707

PubMed Link: 20221430

Variant Present in the following documents:

• Main text
• pone.0009476.pdf

View BVdb publication page

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