Aya Abu-El-Haija, MD
Attending Physician, Division of Genetics and Genomics
Assistant Professor of Pediatrics, Harvard Medical School
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Aya Abu-El-Haija, MD
Attending Physician, Division of Genetics and Genomics
Assistant Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
Arabic
English
Education
Residency
Pediatrics
University of Medicine and Dentistry of NJ (UMDNJ)
2013
Newark
NJ
Fellowship
University of California San Francisco (UCSF)
2018
San Francisco
CA
Certifications
American Board of Pediatrics (General)
American Board of Medical Genetics and Genomics
Professional History
Dr. Abu-El-Haija is trained and certified with American Board of Pediatrics, and American Board of Medical Genetics and Genomics. Dr. Abu-El-Haija has main interests to see overgrowth conditions, macrocephaly conditions, hemihypertrophy, conditions with vascular anomalies, Kabuki syndrome, and other conditions of congenital anomalies, developmental delays and autism spectrum diagnoses.
Publications
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. View Abstract
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS. View Abstract
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder. View Abstract
Craving Answers. View Abstract
Delayed diagnosis and racial bias in children with genetic conditions. View Abstract
Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms. View Abstract
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. View Abstract
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. View Abstract
Cobalamin D Deficiency Identified Through Newborn Screening. View Abstract