CatherineBKarimovMD

PubMed

• 2 citations
  Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
  Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania ...> ;Genetics in Medicine. 2023 Nov 1
• 22 citations
  A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
  Theodore G. Drivas, Dong Li, Divya Nair, Joseph T. Alaimo, Marielle Alders, Janine Altmüller, Tahsin Stefan Barakat, E. Martina Bebin, Nicole L. Bertsch, Patrick R. Bl...> ;European Journal of Human Genetics. 2020 Jun 1
• 17 citations
  Widening of the Genetic and Clinical Spectrum of Lamb-Shaffer Syndrome, a Neurodevelopmental Disorder Due to SOX5 Haploinsufficiency
  Ash Zawerton, Cyril Mignot, Ashley N. Sigafoos, Patrick R. Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabe...> ;Genetics in Medicine. 2020 Mar 1
• 34 citations
  PEDIA: prioritization of exome data by image analysis
  Tzung-Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg V. Borisov, ...> ;Genetics in Medicine. 2019 Jun 5
• 6 citations
  Transmission of a TP53 germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female...
  Jennifer A. Cotter, Linda J Szymanski, Catherine Karimov, Lara Boghossian, Ashley Margol, Girish Dhall, Benita Tamrazi, G Isaac Varaprasathan, David M. Parham, Alexand...> ;Cold Spring Harbor Molecular Case Studies. 2018 Apr 2
• 8-Month-Old Boy with Ataxia after Ingestion of Cow's Milk.
  Xiaowei Fu, Catherine Karimov, Linda M. Randolph, Alvaro H Serrano Russi> ;Clinical Chemistry. 2018 Mar 1
• Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function.
  Karimov, C. B., Moragianni, V. A., Cronister, A., Srouji, S., Petrozza, J., Racowsky, C., Ginsburg, E., Thornton, K. L., Welt, C. K.> ;Hum Reprod. 2011 Aug
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