Publications:

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.

Bmc Ophthalmology

Shurygina, Maria F MF; Parker, Maria A MA; Schlechter, Catie L CL; Chen, Rui R; Li, Yumei Y; Weleber, Richard G RG; Yang, Paul P; Pennesi, Mark E ME

Publication Date: 2019-12-07

Variant appearance in text: HMCN1: V707F

PubMed Link: 31810438

Variant Present in the following documents:

• Main text
• 12886_2019_Article_1259.pdf

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: HMCN1: 2119G>T; V707F; rs137903471

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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