K. Rubin

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Golder N Wilson, I. Simonic, Soo-Mi Park, 2017, Journal of Medical Genetics.

An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

K. Rubin, S. Deluca, L. LaConte, 2018, American journal of medical genetics. Part A.

Managing Couple Conflict During Prenatal Counseling Sessions: An Investigation of Genetic Counselor Experiences and Perceptions

K. Rubin, B. LeRoy, P. McCarthy Veach, 2018, Journal of Genetic Counseling.

Suppressors of SNF2 mutations restore invertase derepression and cause temperature-sensitive lethality in yeast.

M. Carlson, K. Rubin, L. Neigeborn, 1986, Genetics.

Deletion and duplication of 11p13‐11p14: Reciprocal aberrations derived from a paternal insertion

K. Rubin, B. Hirsch, S. Berry, 2011, American journal of medical genetics. Part A.