Shagun Kaur

Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Dena R. Matalon, Cinthya Zepeda‐Mendoza, Mahmoud Aarabi et al. · Genetics in Medicine · 2023 · 43 citations · Full text

Family Medicine, Genetic Testing, American College +10

Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Theresa A. Grebe, George Khushf, John M. Greally et al. · Genetics in Medicine · 2024 · 24 citations · Full text

Expanding Phenotypic Spectrum of Cerebral Aspartate–Glutamate Carrier Isoform 1 (AGC1) Deficiency

Brian K. Pfeiffer, Kuntal Sen, Shagun Kaur et al. · Neuropediatrics · 2019 · 23 citations

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

Kuntal Sen, Shagun Kaur, David W. Stockton et al. · American Journal of Perinatology Reports · 2021 · 13 citations · Full text

Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report

Hannah Henige, Shagun Kaur, Kara Pappas · European Journal of Medical Genetics · 2021 · 12 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +8