Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening

by Fady Hannah-Shmouni, Dominick Amato
Published 2019-03-01

Genetics of Hypertension in African Americans and Others of African Descent

by Mihail Zilbermint, Fady Hannah-Shmouni, Constantine A. Stratakis
Published 2019-03-01

Alterations of Phosphodiesterases in Adrenocortical Tumors

by Fady Hannah-Shmouni, Fabio Faucz, Constantine A. Stratakis
Published 2016-08-01

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy

by Fady Hannah-Shmouni, Fady Hannah-Shmouni, Lauren MacNeil, Lauren MacNeil, Lauren Brady, Mats I. Nilsson, Mark Tarnopolsky
Published 2019-10-01

Molecular Genetic and Genomic Alterations in Cushing’s Syndrome and Primary Aldosteronism

by Crystal D. C. Kamilaris, Constantine A. Stratakis, Fady Hannah-Shmouni
Published 2021-03-01

Curative resection of an aldosteronoma causing primary aldosteronism in the second trimester of pregnancy

by Skand Shekhar, Rasha Haykal, Crystal Kamilaris, Constantine A Stratakis, Fady Hannah-Shmouni
Published 2020-08-01

Adrenocortical carcinoma and pulmonary embolism from tumoral extension

by Skand Shekhar, Sriram Gubbi, Georgios Z Papadakis, Naris Nilubol, Fady Hannah-Shmouni
Published 2019-11-01

An unexpected diagnosis of Graves’ disease in an 81-year-old female with altered mental status

by Shaan Gupta, Michael Xie, Mustafa Mohamedali, David Youssef, Fady Hannah-Shmouni, Punginathn Dorasamy
Published 2020-07-01

Insights into the Immunopathophysiology of Severe COVID-19 in Metabolic Disorders

by Skand Shekhar, Caroline E. Copacino, Francisco J. Barrera, Janet E. Hall, Fady Hannah-Shmouni
Published 2020-04-01

Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma

by Fady Hannah-Shmouni, Lauren MacNeil, Irene Lara-Corrales, Elena Pope, Peter Kannu, Neal Sondheimer
Published 2019-12-01

Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B

by Fady Hannah-Shmouni, Lauren MacNeil, Murray Potter, Rebekah Jobling, Grace Yoon, Suzanne Laughlin, Susan Blaser, Michal Inbar-Feigenberg
Published 2019-03-01

Association of BRAF V600E with Hypothalamic-Pituitary-Adrenal Axis Involvement in Erdheim-Chester Disease

by Fady Hannah-Shmouni, Louisa Boyd, Georgios Z. Papadakis, Amit Tirosh, William A Gahl, Juvianee I. Estrada-Veras, Kevin O'Brien
Published 2020-07-01

Artificial Intelligence and Machine Learning in Endocrinology and Metabolism: The Dawn of a New Era

by Sriram Gubbi, Pavel Hamet, Pavel Hamet, Johanne Tremblay, Johanne Tremblay, Christian A. Koch, Christian A. Koch, Christian A. Koch, Fady Hannah-Shmouni
Published 2019-03-01

Inhibin A as a tumor marker for primary bilateral macronodular adrenal hyperplasia

by Rachel Wurth, Crystal Kamilaris, Naris Nilubol, Samira M Sadowski, Annabel Berthon, Martha M Quezado, Fabio R Faucz, Constantine A Stratakis, Fady Hannah-Shmouni
Published 2020-05-01

A case of Carney triad complicated by renal cell carcinoma and a germline SDHA pathogenic variant

by Rachel Wurth, Abhishek Jha, Crystal Kamilaris, Anthony J Gill, Nicola Poplawski, Paraskevi Xekouki, Martha M Quezado, Karel Pacak, Constantine A Stratakis, Fady Hannah-Shmouni
Published 2021-04-01

Neurological manifestations of Erdheim–Chester Disease

by Louisa C. Boyd, Kevin J. O’Brien, Neval Ozkaya, Tanya Lehky, Avner Meoded, Bernadette R. Gochuico, Fady Hannah‐Shmouni, Avindra Nath, Camilo Toro, William A. Gahl, Juvianee I. Estrada‐Veras, Rahul H. Dave
Published 2020-04-01

Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease

by Skand Shekhar, Jorge A. Irizarry-Caro, Ninet Sinaii, William A. Gahl, Juvianee I. Estrada-Veras, Rahul H. Dave, Bernadette R. Gochuico, Georgios Z. Papadakis, Nicholas Patronas, Constantine A. Stratakis, Kevin O’Brien, Fady Hannah-Shmouni
Published 2021-08-01