ElaineHZackaiMD

PubMed

• 535 citations
  Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syn...
  Maude Schneider, Martin Debbané, Anne S. Bassett, Eva W.C. Chow, Wai Lun Alan Fung
  The American Journal of Psychiatry. 2014-06-01
• 25 citations
  The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
  Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna
  Genetics in Medicine. 2020-02-01
• 14 citations
  Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
  Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark
  American Journal of Medical Genetics. Part A. 2023-08-01

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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