Publications by authors named "Meron Azage"

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KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.
Tehmeena Akhter, Zubair M Ahmed, Yaping Ji, Axel Schmidt, Meron Azage

Genet Med· October 2025

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Patient-reported outcomes for remote and in-person visits for genetic counseling in adult neurology.
Rachel A Paul, Nareen Babaian, Morgan Brzozowski, Aaron Baldwin, Kelsey Johnson, Meron Azage

J Genet Couns· June 2025

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Disparities in Genetic Testing for Neurologic Disorders.
Aaron Baldwin, Juliette Copeland, Meron Azage, Laynie Dratch, Kelsey Johnson

Neurology· March 2024

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Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.
Laynie Dratch, Meron Azage, Aaron Baldwin, Kelsey Johnson, Rachel A Paul

J Neurol· February 2024

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Preimplantation Genetic Testing for Adult-Onset Neurodegenerative Disease: Considerations for Access, Utilization, and Counseling.
Rachel A Paul, Aaron Baldwin, Kelsey Johnson, Sara Manning Peskin, Thomas F Tropea, Meron Azage

Neurology· November 2023

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De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Meron Azage

Am J Med Genet A· May 2020

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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Diana Le Duc, Cecilia Giulivi, Susan M Hiatt, Eleonora Napoli, Alexios Panoutsopoulos, Meron Azage

Brain· September 2019

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Missense variants in the chromatin remodeler are associated with neurodevelopmental disability.
Genay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, Leandros Boukas, Megan T Cho, Meron Azage

J Med Genet· August 2018

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De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Volkan Okur, Megan T Cho, Lindsay Henderson, Kyle Retterer, Michael Schneider, Meron Azage

Hum Genet· July 2016

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Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.
Anke Van Dijck, Ilse M van der Werf, Edwin Reyniers, Stefaan Scheers, Meron Azage

Eur J Med Genet· October 2015

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A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.
Jie Hu, Malini Sathanoori, Sally Kochmar, Meron Azage, Susan Mann

Am J Med Genet A· August 2015

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Mutations in ZBTB20 cause Primrose syndrome.
Viviana Cordeddu, Bert Redeker, Emilia Stellacci, Aldo Jongejan, Alessandra Fragale, Meron Azage

Nat Genet· August 2014

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