Shiri Soudry
University of California, San Francisco
5 Papers
15 Citations
Shiri Soudry is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Exome & Exome sequencing. The author has an hindex of 2, co-authored 2 publications.
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Papers
Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration
Jacque L. Duncan,Pooja Biswas,Igor Kozak,Mili Navani,Reema Syed,Shiri Soudry,Moreno Menghini,Rafael C. Caruso,Brett G. Jeffrey,John R. Heckenlively,G. Bhanuprakash Reddy,Pauline Lee,Austin Roorda,Radha Ayyagari +13 more
TL;DR: Loss of outer retinal structures demonstrated with high-resolution retinal imaging suggests FAM161A is important for normal photoreceptor structure and survival, and exome sequencing may identify causative genetic variants in autosomal recessive RD families when other genetic test strategies fail to identify a mutation.
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Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Alina Kurolap,Florian Kreuder,Claudia Gonzaga-Jauregui,Morasha Plesser Duvdevani,Tamar Harel,Luna Tammer,Baozhong Xin,Somayeh Bakhtiari,James Rice,Clare L. van Eyk,Jozef Gecz,Jean K. Mah,Derek Atkinson,Heidi Cope,Jennifer A. Sullivan,Alon M. Douek,Daniel Colquhoun,Jason Henry,Donald Wlodkowic,Yesim Parman,Ayse Candayan,Elif Kocasoy-Orhan,Anat Ilivitzki,Shiri Soudry,Rina Leibu,Fabian Glaser,Valerie Sency,Gil Ast,Vandana Shashi,Michael C Fahey,Esra Battaloglu,Albena Jordanova,Vardiella Meiner,A. Micheil Innes,Heng Wang,Orly Elpeleg,Michael C. Kruer,Jan Kaslin,Hagit Baris Feldman +38 more
TL;DR: In this paper , the authors describe ten affected individuals with bi-allelic variants in the neuronal cell adhesion molecule NRCAM that lead to a neurodevelopmental syndrome of varying severity; the individuals are from eight families.
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Examination of inattentive gender bias in medicine: Patients’ form of addressing male and female physicians
Efrat Naaman,Luda Gelfand Saar,Liron Naftali Ben-Haim,Yoreh Barak,Nitai Bar,Cecilia P. Labardini,Shiri Soudry +6 more
TL;DR: In this article , the authors found that patients tended to address their physician formally using "doctor" or the doctors full name rather than using first name or nicknames (83/106) and no correlation was found between the form of address and physician's gender.
Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.
Jacque L. Duncan,Austin Roorda,Mili Navani,Sangeetha Vishweswaraiah,Reema Syed,Shiri Soudry,Kavitha Ratnam,Harini V. Gudiseva,Pauline Lee,Terry Gaasterland,Radha Ayyagari +10 more
TL;DR: Exome analysis revealed a novel CDHR1 nonsense mutation segregating with progressive retinal degeneration causing severe central vision loss by the fourth decade of life, and high-resolution retinal imaging revealed outer retinal changes suggesting thatCDHR1 is important for normal photoreceptor structure and survival.
Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.
Sapir Shalom,Tamar Ben-Yosef,Ifat Sher,Amir Zag,Ygal Rotenstreich,Tomer Poleg,Ohad S. Birk,Libe Gradstein,Miriam Ehrenberg,Iris Deitch,Eedy Mezer,Idan Hecht,Eran Pras,Dan Ramon,Samer Khateb,Dinah Zur,Hadas Newman,Rawan Kharouba,Nitza Goldenberg-Cohen,Rina Leibu,Shiri Soudry,Ido Perlman,Eyal Banin,Dror Sharon +23 more
TL;DR: Nationwide prevalence of inherited retinal diseases in the Israeli population is high, with retinitis pigmentosa being the most common phenotype.