AditiIDagliMD

PubMed

• 2 citations
  The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
  Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B A de Vries, Richard H van Jaarsveld, Saskia M J Hopman, Ellen van Bins...> ;American Journal of Human Genetics. 2023 Jun 1
• 246 citations
  Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
  Priya S. Kishnani, Stephanie Austin, Jose E. Abdenur, Pamela Arn, Deeksha Bali, Anne Boney, Wendy K. Chung, Aditi I Dagli, David C. Dale, Dwight D. Koeberl, Michael J....> ;Genetics in Medicine. 2014 Nov 1
• Facial dysmorphism and digit anomalies in three siblings with severe developmental delay.
  Jennifer Mueller, Aditi I Dagli, Heather J. Stalker, Nazneen Rahman, Roberto T. Zori, Charles A. Williams> ;Clinical Dysmorphology. 2011 Apr 1
• 97 citations
  Molecular and Clinical Aspects of Angelman Syndrome.
  Aditi I Dagli, Karin Buiting, Charles A. Williams> ;Molecular Syndromology. 2011 Jan 1
• 195 citations
  Clinical and genetic aspects of Angelman syndrome
  Charles A. Williams, Daniel J. Driscoll, Aditi I Dagli> ;Genetics in Medicine. 2010 Jul 1
• 11 citations
  Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries.
  Aditi I Dagli, Philip J. Lee, Catherine E. Correia, Christina Rodriguez, Kaustav Bhattacharya, Linda Steinkrauss, Charles A. Stanley, David A. Weinstein> ;Journal of Inherited Metabolic Disease. 2010 Apr 13
• 68 citations
  Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures
  Stephen R. Williams, Sureni V. Mullegama, Jill A. Rosenfeld, Aditi I Dagli, Eli Hatchwell, William P Allen, Charles A. Williams, Sarah H. Elsea> ;European Journal of Human Genetics. 2010 Apr 1
• 128 citations
  Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia
  Margaret J. Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi I Dagli, Carlos A. Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Sc...> ;American Journal of Medical Genetics. Part A. 2009 Aug 1
• 39 citations
  Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet
  Aditi I Dagli, Roberto T. Zori, Helen McCune, T. Ivsic, Melissa K. Maisenbacher, David A. Weinstein> ;Journal of Inherited Metabolic Disease. 2009 Mar 30
• 13 citations
  A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development.
  Aditi I Dagli, Heather J. Stalker, Charles A. Williams> ;American Journal of Medical Genetics. Part A. 2008 Jan 15
• 84 citations
  Genetic disorders associated with macrocephaly
  Charles A. Williams, Aditi I Dagli, Agatino Battaglia> ;American Journal of Medical Genetics. Part A. 2008 Aug 1
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