LouisaRechamaKalsnerMD

PubMed

• 8 citations
  Fetal anomaly diagnosis and termination of pregnancy.
  William D Graf, Bruce H Cohen, Louisa Kalsner, Phillip L Pearl, Harvey B Sarnat, Leon G Epstein> ;Developmental Medicine and Child Neurology. 2023 Jul 1
• 1 citations
  Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
  Felix Marbach, Beata S Lipska-Ziętkiewicz, Agata Knurowska, Vincent Michaud, Henri Margot, James Lespinasse, Frédéric Tran Mau Them, Christine Coubes, Joohyun Park, Sa...> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• 44 citations
  SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
  Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andres Hernandez-Garcia, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam...> ;American Journal of Human Genetics. 2021 Mar 4
• 25 citations
  TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
  Geeske M. van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha Shur, Kristin W. Barañano, Sonal Mahida, Anna Chassevent, Allis...> ;Human Mutation. 2021 Feb 10
• 3 citations
  Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
  Qandeel Zahra, Çağla Çakmak, Mine Koprulu, Muhammad Shuaib, Nara Sobreira, Louisa Kalsner, Joselito Sobreira, Maria J. Guillen Sacoto, Sajid Malik, Aslıhan Tolun> ;Journal of Human Genetics. 2020 Jul 31
• 3 citations
  Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.
  Anne Slavotinek, Johanna M. van Hagen, Louisa Kalsner, Shashidhar Pai, Laura Davis-Keppen, Lisa Ohden, Yvonne G. Weber, Erica L. Macke, Eric W. Klee, Eva Morava, Laure...> ;European Journal of Medical Genetics. 2020 Jan 16
• 13 citations
  Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
  Susan M. Hiatt, Michelle L. Thompson, Jeremy W. Prokop, James M.J. Lawlor, David E. Gray, E. Martina Bebin, Tuula Rinne, Marlies Kempers, Rolph Pfundt, Bregje W.M. van...> ;American Journal of Human Genetics. 2019 Apr 4
• 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
• 48 citations
  Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
  Yuri A. Zarate, Constance Smith-Hicks, Carol L. Greene, Mary-Alice Abbott, Victoria Mok Siu, Amy R. U. L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie ...> ;American Journal of Medical Genetics. Part A. 2018 Apr 1
• 23 citations
  Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
  Louisa Kalsner, Jennifer Twachtman-Bassett, Kristin Tokarski, Christine Stanley, Thyde Dumont-Mathieu, Justin Cotney, Stormy J. Chamberlain> ;Molecular Genetics & Genomic Medicine. 2018 Mar 1
• 29 citations
  Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
  Yuri A. Zarate, Louisa Kalsner, Alice Basinger, Julie R. Jones, Chumei Li, Marta Szybowska, Zhou Luan Xu, Samantha A. Schrier Vergano, Aisling R. Caffrey, Cruz Velasco...> ;Clinical Genetics. 2017 Oct 1
• 83 citations
  Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.
  Louisa Kalsner, Stormy J. Chamberlain> ;Pediatric Clinics of North America. 2015 Jun 1
• 15 citations
  Tyrosine supplementation in phenylketonuria: diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids.
  Louisa R. Kalsner, Frances Rohr, Kevin A. Strauss, Mark S. Korson, Harvey L. Levy> ;The Journal of Pediatrics. 2001 Sep 1
• Join now to see all