SusanCloverWinterMD

PubMed

• 11 citations
  Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.
  Samin A. Sajan, Jaya Ganesh, Deepali N. Shinde, Zöe Powis, Maria I. Scarano, Jennifer Stone, Susan Winter, Sha Tang> ;Journal of Medical Genetics. 2019 Dec 1
• 13 citations
  The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
  Benjamin M. Helm, Zöe Powis, Carlos E. Prada, Olga L. Casasbuenas‐Alarcon, Tonya Balmakund, G B Schaefer, Stephen G. Kahler, Julie Kaylor, Susan Winter, Yuri A. Zarate...> ;American Journal of Medical Genetics. Part A. 2017 Aug 17
• 15 citations
  Quantification of intraoral pressures during nutritive sucking: methods with normal infants.
  William Christopher Lang, Neil R. M. Buist, Annmarie Geary, Scott Buckley, Elizabeth L. Adams, Albyn Jones, Stephen Gorsek, Susan Winter, Hanh Tran, Brian R. Rogers> ;Dysphagia. 2011 Sep 1
• 25 citations
  Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine.
  Susan C Winter, Neil R. M. Buist> ;American Heart Journal. 2000 Feb 1
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Journal Articles

• 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