Publications:

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: BBS7: 198T>G; Ile66Met

PubMed Link: 25412400

Variant Present in the following documents:

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

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Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

Journal Of Medical Genetics

Harville, H M HM; Held, S S; Diaz-Font, A A; Davis, E E EE; Diplas, B H BH; Lewis, R A RA; Borochowitz, Z U ZU; Zhou, W W; Chaki, M M; MacDonald, J J; Kayserili, H H; Beales, P L PL; Katsanis, N N; Otto, E E; Hildebrandt, F F

Publication Date: 2010-04

Variant appearance in text: BBS7: I66M

PubMed Link: 19797195

Variant Present in the following documents:

• Main text

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