ElaineHZackaiMD

PubMed

• 29 citations
  Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
  Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard
  American Journal of Human Genetics. 2019-03-07
• 52 citations
  De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
  Fan Xia, Matthew N. Bainbridge, Tiong Yang Tan, Michael F. Wangler, Angela E. Scheuerle
  American Journal of Human Genetics. 2014-05-01
• 125 citations
  Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development
  Peter M. Van Laarhoven, Leif R. Neitzel, Anita M. Quintana, Elizabeth A. Geiger, Elaine H. Zackai
  Human Molecular Genetics. 2015-05-13

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
• 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
• 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
• 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
• 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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