Publications by authors named "Karol Rubin"

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An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.
Leslie E W LaConte, Vrushali Chavan, Stephanie DeLuca, Karol Rubin, Jessica Malc

Am J Med Genet A· January 2019

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Managing Couple Conflict During Prenatal Counseling Sessions: An Investigation of Genetic Counselor Experiences and Perceptions.
Kara Schoeffel, Patricia McCarthy Veach, Karol Rubin, Bonnie LeRoy

J Genet Couns· September 2018

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Karol Rubin

Am J Hum Genet· January 2018

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mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Daphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, Odile Boute-Benejean, Perrine Charles, Karol Rubin

J Med Genet· July 2017

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Karol Rubin

Hum Mutat· November 2015

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Deletion and duplication of 11p13-11p14: reciprocal aberrations derived from a paternal insertion.
Michelle Dolan, Susan A Berry, Karol R Rubin, Betsy Hirsch

Am J Med Genet A· November 2011

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