EvaMorava-KoziczMDPhD

Clinical Biochemical Genetics, Clinical Genetics

Professor, genetics and genomic sciences, Icahn School of Medicine at Mount Sinai

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Dr. Eva Morava-Kozicz is a medical geneticist in New York, NY and is affiliated with multiple hospitals in the area, including Mayo Clinic Hospital - Rochester and Mayo Clinic Hospital - Rochester. She received her medical degree from Tulane University School of Medicine and has been in practice 25 years. She also speaks multiple languages, including Hungarian and Dutch. She specializes in clinical biochemical genetics and clinical genetics and is experienced in clinical genetics, connective tissue disorders, and next generation sequencing. She has more than 30 publications and over 200 citings.

Acetazolamide Efficacy in Ataxia in PMM2-CDG Start of enrollment: 2021 Mar 17
Terminated
Phase 2, Phase 3
Oral Epalrestat Therapy in Pediatric Subjects With PMM2-CDG Start of enrollment: 2022 Nov 10
Active, not recruiting
Phase 3
Roles: Contact, Principal Investigator
Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation Start of enrollment: 2018 Dec 06
Recruiting
Roles: Contact, Principal Investigator
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation Start of enrollment: 2019 Oct 08
Recruiting
Roles: Principal Investigator, Contact
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PubMed

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam
Genetics in Medicine. 2024-11-01
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Matthew J Moulton, Kristhen Atala, Yiming Zheng, Debdeep Dutta, Dorothy K Grange
Genetics in Medicine. 2024-09-01
2 citations
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Jennefer N Kohler, Nicole R Legro, Dustin Baldridge, Jimann Shin, Angela Bowman
Genetics in Medicine. 2024-09-01

Mayo Clinic Discovery Leads to Life-Changing Treatment for Young Girl with Ultra-Rare DiseaseFebruary 28th, 2023
Lucy Has a Rare Genetic Disorder. Two Doctors Are Leading the Desperate Hunt for a Cure: Her ParentsNovember 3rd, 2022
Minnesota Partnership Awards Five Collaborative Research Grants for 2022January 13th, 2022
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