Elaine H Zackai MD

PubMed

• Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome.
  Dong Li, Leticia S Matsuoka, Sarah Donoghue, Cuiping Hou, Alanna Strong
  European Journal of Human Genetics. 2025-06-09
• ZNF280A links DNA double-strand break repair to human 22q11.2 distal deletion syndrome.
  Thomas L Clarke, Hyo Min Cho, Ilaria Ceppi, Boya Gao, Tribhuwan Yadav
  Nature Cell Biology. 2025-06-01
• Presence, severity, and functional associations of incomplete hippocampal inversion in 22q11.2 deletion syndrome.
  David Roalf, Ally Atkins, Adam Czernuszenko, Margaret K Pecsok, Donna M McDonald-McGinn
  Biological Psychiatry. Cognitive Neuroscience and Neuroimaging. 2025-04-25

Journal Articles

• The Impact of Hypocalcemia on Full Scale IQ in Patients with 22q11.2 Deletion Syndrome  
  Kathleen Valverde, Vaneeta Bamba, Katheryn Grand, Megan Lessig, Katherine Lord, Elaine H Zackai, American Journal of Medical Genetics Part A
• Neurologic Challenges in 22q11.2 Deletion Syndrome  
  Elaine H Zackai, Larissa T Bilaniuk, Sarah E Hopkins, Madeline Chadehumbe, American Journal of Medical Genetics Part A
• Variance of IQ Is Partially Dependent on Deletion Type Among 1,427 22q11.2 Deletion Syndrome Subjects  
  Raquel E Gur, Carrie E Bearden, Elaine Zackai, American Journal of Medical Genetics Part A
• 22q and Two: 22q11.2 Deletion Syndrome and Coexisting Conditions  
  Elaine H Zackai, Jennifer L Cohen, Carey McDougall, Michele P Lambert, American Journal of Medical Genetics Part A
• Expanding the Clinical Phenotype of Individuals with a 3-Bp in-Frame Deletion of the NF1 Gene (c.2970_2972del): An Update of Genotype–Phenotype Correlation  
  Rachel K Hachen, Elizabeth K Schorry, Arthur S Aylsworth, Katherine A Rauen, Ashraf Syed, Daryl A Scott, Lois J Starr, Donald G Basel, Lynne M Bird, Leah W Burke, Mari..., Nature
• Variable Clinical Manifestations of Xia‐Gibbs Syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital  
  Carey McDougall, Elaine H Zackai, Paige Kaplan, Kosuke Izumi, Emma C Bedoukian, Stephanie B Asher, Livija Medne, Ian D Krantz, American Journal of Medical Genetics Part A
• De Novo Missense Variants in MEIS2 Recapitulate the Microdeletion Phenotype of Cardiac and Palate Abnormalities, Developmental Delay, Intellectual Disability and Dysmo...  
  Theresa Grebe, Susan Winter, Elaine H Zackai, Angelika L Erwin, Matthew A Deardorff, Margaret Harr, American Journal of Medical Genetics Part A
• Nonreentrant Atrial Tachycardia Occurs Independently of Hypertrophic Cardiomyopathy in RASopathy Patients  
  Karen W Gripp, Rosemarie Smith, Stephanie M Ware, Paula Goldenberg, Kathryn C Chatfield, Mark D Levin, Richard J Czosek, Elaine H Zackai, Angela E Lin, Tara L Wenger, ..., American Journal of Medical Genetics Part A
• Expanding the Fetal Phenotype: Prenatal Sonographic Findings and Perinatal Outcomes in a Cohort of Patients with a Confirmed 22q11.2 Deletion Syndrome  
  Elaine H Zackai, Nahla Khalek, Mark P Johnson, Julie S Moldenhauer, Beverly Coleman, American Journal of Medical Genetics Part A
• Correction: Novel Findings with Reassessment of Exome Data: Implications for Validation Testing and Interpretation of Genomic Data  
  Elizabeth Bhoj, Emma Bedoukian, Elaine Zackai, Alisha Wilkens, Livija Medne, Ian Krantz, Holly Dubbs, Eric Marsh, Nature
• Management of Velopharyngeal Dysfunction in Patients with 22q11.2 Deletion Syndrome: A Survey of Practice Patterns☆  
  Elaine Zackai, Meg Ann Maguire, Leanne Magee, Oksana A Jackson, ScienceDirect
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