ZacharyWhittMD

PubMed

• 2 citations
  Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome
  Alberto Varon, Zachary Whitt, Paige M. Kalika, Lorraine Potocki, Deborah Barbouth, Katherina Walz> ;American Journal of Medical Genetics. Part A. 2019 Jul 1
• 109 citations
  Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
  Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, Alice K. Tanner, Arunkanth Ankala, Thomas Schneider, Cristina da Silva, Randall Beadling, John J. Ale...> ;Annals of Clinical and Translational Neurology. 2018 Dec 1
• 4 citations
  Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.
  Zunyan Dai, Zachary Whitt, Lindsey Mighion, Alessandro Pontoglio, Lora J. H. Bean, Roberto Colombo, Madhuri Hegde> ;European Journal of Medical Genetics. 2017 Jun 1

Abstracts/Posters

• Clinical utility of targeted Nextgen sequencing and array CGH panels along with mitochondrial genome analysis for inherited eye diseases
  S. P. Shankar, J. Yan, Z. Whitt, B. Bunke, C. d. Silva, S. Richards, M. Hegde, J. J. Alexander, European Society of Human Genetics Annual Conference
• Examining Gene: Disease causality; Do heterozygous loss-of-function variants in the MYH8 gene cause phenotypes? A study of 18 cases.
  Z. Dai, J. J. Alexander, L. Mighion, Z. Whitt, L. J. H. Bean, M. Hegde, American College of Medical Genetics and Genomics Annual Conference