Publications by authors named "Sandhya Parkash"

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Association of De Novo Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.
Amélie Pinard, Maximillian D J Fiander, Alana C Cecchi, Andrea L Rideout, Mohamed Azouz, Sandhya Parkash

Neurology· March 2021

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A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
June Duong, Andrea Rideout, Sara MacKay, Jill Beis, Sandhya Parkash

Eur J Med Genet· February 2020

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Grange syndrome due to homozygous YY1AP1 missense rare variants.
Isabella V Ciuffetelli Alamo, Callie S Kwartler, Ellen R Regalado, Rana O Afifi, Sandhya Parkash

Am J Med Genet A· December 2019

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LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Przemyslaw Szafranski, Ewelina Kośmider, Qian Liu, Justyna A Karolak, Lauren Currie, Sandhya Parkash

Hum Mutat· December 2018

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A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Dorien Schepers, Giada Tortora, Hiroko Morisaki, Gretchen MacCarrick, Mark Lindsay, Sandhya Parkash

Hum Mutat· May 2018

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Sandhya Parkash

Nat Genet· January 2017

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Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Johane M Robitaille, Roxanne M Gillett, Marissa A LeBlanc, Daniel Gaston, Mathew Nightingale, Sandhya Parkash

JAMA Ophthalmol· December 2014

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Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.
Shimul Chowdhury, Anne M Bandholz, Sandhya Parkash, Sarah Dyack, Andrea L Rideout

Am J Med Genet A· January 2014

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Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Duane L Guernsey, Makoto Matsuoka, Haiyan Jiang, Susan Evans, Christine Macgillivray, Sandhya Parkash

Nat Genet· February 2011

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Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Jeff M Milunsky, Tom M Maher, Geping Zhao, Zhenyuan Wang, John B Mulliken, Sandhya Parkash

Am J Med Genet A· January 2011

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