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  • Kristen Wigby, Cheryl D'Epagnier, +4 authors Nicole Tartaglia
  • Medicine, Biology
  • American journal of medical genetics. Part A
  • 2016 (First Publication: 1 November 2016)
  • Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing dueContinue Reading
  • Kristen Wigby, Stephen R F Twigg, +4 authors Marilyn C Jones
  • Biology, Medicine
  • American journal of medical genetics. Part A
  • 2017 (First Publication: 1 June 2017)
  • Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. AContinue Reading
  • Michelle M Clark, Amber Hildreth, +58 authors Stephen F Kingsmore
  • Biology, Medicine
  • Science Translational Medicine
  • 2019 (First Publication: 24 April 2019)
  • By informing timely targeted treatments, rapid whole-genome sequencing can improve the outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and pediatricContinue Reading
  • Karin Weiss, Kristen Wigby, +11 authors Paul S Kruszka
  • Medicine, Biology
  • European Journal of Human Genetics
  • 2017 (First Publication: 1 August 2017)
  • The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies.Continue Reading
  • Amber Hildreth, Kristen Wigby, +6 authors Stephen F Kingsmore
  • Medicine
  • Cold Spring Harbor molecular case studies
  • 2017 (First Publication: 1 September 2017)
  • Niemann-Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1 AlthoughContinue Reading
  • Jennifer R. Friedman, Desirée E. C. Smith, +26 authors Joseph G. Gleeson
  • Biology, Medicine
  • Nature Communications
  • 2019 (First Publication: 12 February 2019)
  • Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known toContinue Reading
  • Thi Tuyet Mai Nguyen, Yoshiko Murakami, +16 authors Philippe M. Campeau
  • Biology, Medicine
  • American journal of human genetics
  • 2018 (First Publication: 1 October 2018)
  • Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result of advances in whole-exome sequencing (WES) and whole-genomeContinue Reading
  • Stephen F Kingsmore, Julie A Cakici, +30 authors David Dimmock
  • Biology, Medicine
  • American journal of human genetics
  • 2019 (First Publication: 1 October 2019)
  • The second Newborn Sequencing in Genomic Medicine and Public Health study was a randomized, controlled trial of the effectiveness of rapid whole-genome or -exome sequencing (rWGS or rWES,Continue Reading
  • Kristen Wigby, Samuel Nicolas, Matthew Carpinello, Michael T Ricciardi, Mary J H Willis
  • Psychology, Medicine
  • Journal of the American Academy of Child and…
  • 2019 (First Publication: 1 March 2019)
  • Genomic testing, including whole exome sequencing (WES), can result in specific changes to medical management. To illustrate the clinical utility of WES for complex neuropsychiatric disease, weContinue Reading