ChristinaBottiMDMS, CGC

PubMed

• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
  Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortüm, Delph...> ;Genetics in Medicine. 2023 Aug 1
• 3 citations
  Congenital Sensorineural Hearing Loss.
  Samantha Shave, Christina Botti, Kelvin Kwong> ;Pediatric Clinics of North America. 2022 Apr 1
• 5 citations
  EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
  Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, S. A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Fa...> ;Orphanet Journal of Rare Diseases. 2021 Mar 18
• 8 citations
  Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia
  Marianne Jacob, Surabhi Menon, Christina Botti, Ian Marshall> ;Case Reports in Endocrinology. 2018 Nov 28
• 6 citations
  Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
  Rachel D. Burnside, Sharon Molinari, Christina Botti, Susan Sklower Brooks, Wendy K. Chung, Lakshmi Mehta, Stuart Schwartz, Peter Papenhausen> ;American Journal of Medical Genetics. Part A. 2018 Sep 1
• 4 citations
  Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.
  Susan Sklower Brooks, Sharon Anderson, Vikram Bhise, Christina Botti> ;Journal of Child Neurology. 2018 Aug 8
• 3 citations
  8p 11 Microduplication Is Associated with Neonatal Stridor.
  Surasak Puvabanditsin, Natalie Gengel, Christina Botti, Marianne Jacob, Maaz Jalil, Kenya Cabrera, Rajeev Mehta> ;Molecular Syndromology. 2018 Nov 20
• 72 citations
  A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans
  Susan S. Brooks, Alissa L. Wall, Christelle Golzio, David W. Reid, Amalia Kondyles, Jason R. Willer, Christina Botti, Christopher V. Nicchitta, Nicholas Katsanis, Eric...> ;Genetics. 2014 Oct 1
• 2 citations
  Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review.
  Surasak Puvabanditsin, Imteyaz Khan, Eugene Garrow, Christina Botti, George H. Lambert, Michelle Quan> ;American Journal of Medical Genetics. Part A. 2013 Dec 1
• 3 citations
  Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening†
  Sharon Anderson, Christina Botti, Bo I. Li, James H. Millonig, Elaine Lyon, Alison Millson, Suzanne S.M. Karabin, Susan Sklower Brooks> ;American Journal of Medical Genetics. Part A. 2012 Sep 1
• 45 citations
  New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
  Deborah J. Morris-Rosendahl, Reeval Segel, A. Peter Born, Christoph Conrad, Bart Loeys, Susan Sklower Brooks, Laura Müller, Christine Zeschnigk, Christina Botti, Ron R...> ;European Journal of Human Genetics. 2010 May 26
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Journal Articles

• Features of Feingold Syndrome 1 Dominate in Subjects with 2p Deletions Including MYCN  
  Susan Sklower Brooks, Lakshmi Mehta, Christina Botti, American Journal of Medical Genetics Part A