Sameena A. Khan

Hospital Medicine
2720 Sunset Blvd
West Columbia, SC 29169

Last Updated: 09/26/2026

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Found 26 publications

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025

Arab founder variants: Contributions to clinical genomics and precision medicine.

Arab founder variants: Contributions to clinical genomics and precision medicine.

Journal: Med (New York, N.Y.)
Published: June 17, 2024

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Journal: Human mutation
Published: July 27, 2021

Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.

Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.

Journal: American journal of human genetics
Published: January 15, 2021

Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.

Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.

Journal: Clinical genetics
Published: November 08, 2020

Author Correction: Arginyltransferase knockdown attenuates cardiac hypertrophy and fibrosis through TAK1-JNK1/2 pathway.

Author Correction: Arginyltransferase knockdown attenuates cardiac hypertrophy and fibrosis through TAK1-JNK1/2 pathway.

Journal: Scientific reports
Published: June 26, 2020

The recognition of proteasomal receptors by Plasmodium falciparum DSK2.

The recognition of proteasomal receptors by Plasmodium falciparum DSK2.

Journal: Molecular and biochemical parasitology
Published: December 14, 2019

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Journal: American journal of human genetics
Published: October 05, 2019

Biochemical characterization of TRIM72 E3 ligase and its interaction with the insulin receptor substrate 1.

Biochemical characterization of TRIM72 E3 ligase and its interaction with the insulin receptor substrate 1.

Journal: Biochemistry and biophysics reports
Published: July 08, 2019

Arginyltransferase knockdown attenuates cardiac hypertrophy and fibrosis through TAK1-JNK1/2 pathway.

Arginyltransferase knockdown attenuates cardiac hypertrophy and fibrosis through TAK1-JNK1/2 pathway.

Journal: Scientific reports
Published: March 12, 2019

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Journal: American journal of human genetics
Published: December 19, 2018
Showing 1-12 of 26

Last Updated: 09/26/2026