AyaHaijaMD

PubMed

• 3 citations
  Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomic...
  Honey V Reddi, Hannah Wand, Birgit Funke, Michael T Zimmermann, Matthew S Lebo, Emily Qian, Brian H Shirts, Ying S Zou, Nancy C Rose, Aya Abu-El-Haija, , Bing M Zhang> ;Genetics in Medicine. 2023 May 1
• 9 citations
  The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
  Aya Abu-El-Haija, Honey V Reddi, Hannah Wand, Nancy C Rose, Mari Mori, Emily Qian, Michael F Murray> ;Genetics in Medicine. 2023 May 1
• 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.
  Abdulrahman A Aldeeri, Aya Abu-El-Haija> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 9 citations
  Delayed diagnosis and racial bias in children with genetic conditions.
  Jacklyn Omorodion, Leah Dowsett, Robin D Clark, Jamie Fraser, Aya Abu-El-Haija, Alanna Strong, Monica H Wojcik, Allison S Bryant, Nina B Gold> ;American Journal of Medical Genetics. Part A. 2022 Apr 1
• Craving Answers.
  Daniel O'Meara, Lea Sheward, Sydney Hartman-Munick, Jessica Addison, Aya Abu-El-Haija> ;The New England Journal of Medicine. 2022 Mar 3
• 7 citations
  Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.
  Aya Abu-El-Haija, Caroline McGowan, Deborah K. VanderVeen, Olaf Bodamer> ;American Journal of Medical Genetics. Part A. 2020 Nov 11
• 10 citations
  A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy
  Bryce A. Mendelsohn, Daniah Beleford, Aya Abu-El-Haija, Norah Alsaleh, Zuhair Rahbeeni, Pierre-Marie Martin, Shannon Rego, Alyssa Huang, Gina Capodanno, Joseph T. Shie...> ;American Journal of Medical Genetics. Part A. 2020 Mar 1
• 8 citations
  Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes
  Aya Abu-El-Haija, Jeffrey R. Fineman, Andrew J. Connolly, Priyanka Murali, Luke M. Judge, Anne Slavotinek> ;American Journal of Medical Genetics. Part A. 2018 Dec 1
• 4 citations
  Cobalamin D Deficiency Identified Through Newborn Screening.
  Aya Abu-El-Haija, Bryce A. Mendelsohn, Jacque L. Duncan, Anthony T. Moore, Orit A. Glenn, Kara Weisiger, Renata C. Gallagher> ;JIMD Reports. 2018 Aug 11
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