IlseJAndersonMD

PubMed

• 1 citations
  De novo loss-of-function variant in PTDSS1 is associated with developmental delay.
  Sara Gracie, Nivedita Sengupta, Carlos Ferreira, Joshua Pemberton, Ilse Anderson, Xin Wang, Lindsay Rhodes, Kathleen Brown, Tamas Balla, Austin Larson> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
• 5 citations
  Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.
  Faith Lindsay, Ilse J. Anderson, Ingrid M. Wentzensen, David Suhrbier, Cathy A. Stevens> ;American Journal of Medical Genetics. Part A. 2020 Jan 31
• 1 citations
  Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
  Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H Rodan, Catherine B Nowak, Jessica Douglas, Kathryn J Swobo...> ;Nature Communications. 2019 May 2
• 19 citations
  Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
  Erin Torti, Boris Keren, Elizabeth E. Palmer, Zehua Zhu, Alexandra Afenjar, Ilse J. Anderson, Marisa V. Andrews, Celia Atkinson, Margaret G. Au, Susan A. Berry, Kevin ...> ;Genetics in Medicine. 2019 Feb 11
• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
  Blok, L. S.,Rousseau, J.,Twist, J.,Ehresmann, S.,Takaku, M.,Venselaar, H.,Rodan, L. H.,Nowak, C. B.,Douglas, J.,Swoboda, K. J.,Steeves, M. A.,Sahai, I.,Stumpel, CTRM.,...> ;Nat Commun. 2019 Feb 17
• 20 citations
  De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
  Sandra Jansen, Ilse M. van der Werf, A. Micheil Innes, Alexandra Afenjar, Pankaj B. Agrawal, Ilse J. Anderson, Paldeep S. Atwal, Ellen van Binsbergen, Marie José H. Va...> ;European Journal of Human Genetics. 2019 Jan 24
• 60 citations
  CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
  Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine Nowak, Jessica Douglas, Kathryn J. Swobo...> ;Nature Communications. 2018 Nov 5
• 22 citations
  De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
  Akemi J. Tanaka, Megan T. Cho, Rebecca Willaert, Kyle Retterer, Yuri A. Zarate, Katie Bosanko, Vikki Stefans, Kimihiko Oishi, Amy Williamson, Golder N. Wilson, Alice B...> ;Cold Spring Harbor Molecular Case Studies. 2017 Nov 21
• 8 citations
  The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call.
  O. Will Towler, Eileen M. Shore, Meiqi Xu, Abbey Bamford, Ilse J. Anderson, Robert J. Pignolo, Frederick S. Kaplan> ;European Journal of Medical Genetics. 2017 Jul 1
• New directions in cytogenetic and molecular testing of the neonate.
  Ilse J. Anderson, Karla J. Matteson> ;Seminars in Perinatology. 2005 Jun 1
• 5 citations
  Mutation detection in an equivocal case of Friedreich's ataxia.
  Nicholas T. Potter, Christopher A Miller, Ilse J. Anderson> ;Pediatric Neurology. 2000 May 1
• 39 citations
  Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy.
  Nicholas T. Potter, Michael A. Meyer, Andrew W. Zimmerman, Michael L. Eisenstadt, Ilse J. Anderson> ;Annals of Neurology. 1995 Feb 1
• 2 citations
  Use of a molecular genetic approach to diagnosing the fragile X genotype.
  Nicholas T. Potter, Carmen B. Lozzio, Ilse J. Anderson, Enid S. Bowlin, Karla J. Matteson> ;The Journal of Pediatrics. 1992 Sep 1
• 32 citations
  Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.
  Ilse J. Anderson, Petros Tsipouras, Carron Scher, Raj Ramesar, R Martell, Peter Beighton> ;American Journal of Medical Genetics. 1990 Oct 1
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