Aya Abu-El-Haija | Medical Services
Specialties
- 22q11.2 Deletion Syndrome
- Alagille Syndrome
- Autism Spectrum Disorders
- Beckwith-Wiedemann Syndrome
- Childhood Obesity
- Congenital Limb Differences
- Craniofacial Anomalies
- Dyslexia
- Hemifacial Microsomia
- Hemihyperplasia
- Klippel-Trenaunay Syndrome
- Laryngeal Cleft
- Loeys-Dietz Syndrome
- Macrodactyly
- Marfan Syndrome
- Microcephaly
- Microtia
- PTEN Hamartoma Tumor Syndrome
- Parkes Weber Syndrome
- Pectus Carinatum
- Pectus Excavatum
- Phelan-McDermid Syndrome
- Rett Syndrome
- Trisomies and Monosomies
- Trisomy 18 and 13
- Turner Syndrome
Programs & Services
Languages
- Arabic
- English
Aya Abu-El-Haija | 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
Aya Abu-El-Haija | Certifications
- American Board of Medical Genetics and Genomics
- American Board of Pediatrics (General)
Aya Abu-El-Haija | 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.
Aya Abu-El-Haija | Publications
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Am J Hum Genet. 2024 07 11; 111(7):1330-1351. View MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Abstract
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS. Am J Med Genet A. 2024 Oct; 194(10):e63709. View Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS. 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). Genet Med. 2023 05; 25(5):100804. View 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). Abstract
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 05; 25(5):100803. View The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). 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. Am J Med Genet A. 2023 04; 191(4):1070-1076. View 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. Abstract
Craving Answers. N Engl J Med. 2022 Mar 03; 386(9):880-886. View Craving Answers. Abstract
Delayed diagnosis and racial bias in children with genetic conditions. Am J Med Genet A. 2022 04; 188(4):1118-1123. View Delayed diagnosis and racial bias in children with genetic conditions. Abstract
Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms. Am J Med Genet A. 2021 02; 185(2):528-533. View Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms. Abstract
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. Am J Med Genet A. 2020 03; 182(3):513-520. View A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. Abstract
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. Am J Med Genet A. 2018 12; 176(12):2877-2881. View Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. Abstract
Cobalamin D Deficiency Identified Through Newborn Screening. JIMD Rep. 2019; 44:73-77. View Cobalamin D Deficiency Identified Through Newborn Screening. Abstract