Emily Smith

Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome

L. Subrahmanyan, G. Go, A. Mani, 2013, Human mutation.

Identification of Homozygous Mutations for Hearing Loss.

A. Mani, M. Dianatpour, Navid Nezafat, 2021, Gene.

CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation

S. Mane, Shrikant Mane, R. Lifton, 2019, Nature Genetics.

A Case for Inclusion of Genetic Counselors in Cardiac Care

C. Caleshu, S. Ommen, M. Ackerman, 2016, Cardiology in review.

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

Hongyu Zhao, S. Mane, Murim Choi, 2016, American journal of human genetics.

At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease

S. Fitzgerald-Butt, H. Tandri, A. Morales, 2017, Journal of Genetic Counseling.

CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation

S. Mane, R. Lifton, R. Kibbey, 2019, Nature Genetics.

Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction

M. Schwartz, A. Mani, J. Akar, 2021, Human mutation.

Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients’ Outcome

P. Thompson, C. Burke-Martindale, A. Weissler-Snir, 2022, Journal of the American Heart Association.