FarrahRajabiMD

PubMed

• Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.
  Qifei Li, Rohan Agrawal, Klaus Schmitz-Abe, Casie A Genetti, Melissa A Fernandes, Noah L Fryou, Jill A Madden, Catherine A Brownstein, Edward C Smith, Farrah Rajabi, A...> ;European Journal of Human Genetics. 2023 Jan 23
• 2 citations
  Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
  Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M Robert, Sunday S Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin C...> ;Genetics in Medicine. 2022 Sep 1
• Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy.
  Sandra Hoyek, Lisa Y Lin, Lindsay Klofas Kozek, Efren Gonzalez, Farrah Rajabi, Nimesh A Patel> ;Proceedings. 2022 Jan 1
• 2 citations
  Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
  Jacqueline L. Steele, Michelle M. Morrow, Harvey B. Sarnat, Ebba Alkhunaizi, Tracy Brandt, David Chitayat, Colette P. DeFilippo, Ganka Douglas, Holly Dubbs, Houda Zgha...> ;Pediatric Neurology. 2022 Jan 1
• A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy.
  Abdelrahman M. Elhusseiny, Mireille Jabroun, Farrah Rajabi, Efren Gonzalez, Maan Alkharashi> ;European Journal of Ophthalmology. 2021 Jun 20
• 4 citations
  Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
  Ilaria Mannucci, Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J....> ;Genome Medicine. 2021 May 21
• Graves' disease in a five-month-old boy with an unusual treatment course.
  Svetlana Azova, Farrah Rajabi, Biren P. Modi, Laura Mansfield, Maureen M. Jonas, Anastasia Drobysheva, Theonia K. Boyd, Ari J. Wassner, Jessica Smith> ;Journal of Pediatric Endocrinology & Metabolism. 2021 Mar 1
• 10 citations
  Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
  Bart Appelhof, Matias Wagner, Julia Hoefele, Anja Heinze, Timo Roser, Margarete Koch-Hogrebe, Stefan D. Roosendaal, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrja...> ;European Journal of Human Genetics. 2021 Mar 1
• 2 citations
  Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci.
  Elizabeth J. Bhoj, Farrah Rajabi, Samuel W. Baker, Avni Santani, Wen-Hann Tan> ;European Journal of Medical Genetics. 2020 Mar 10
• 4 citations
  Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
  Farrah Rajabi, Frances Rohr, Ann Wessel, Leslie Martell, Steven F. Dobrowolski, Per Guldberg, Flemming Güttler, Harvey L. Levy> ;Molecular Genetics and Metabolism. 2019 Sep 14
• 16 citations
  Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging ...
  Lance H. Rodan, Kwame Anyane-Yeboa, Karen Chong, Jolien S. Klein Wassink-Ruiter, Ashley Wilson, Lacey Smith, Sanjeev V. Kothare, Farrah Rajabi, Susan Blaser, Min Ni, R...> ;American Journal of Medical Genetics Part A. 2018 Dec 1
• Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox
  Nina B. Gold, Jennifer Blumenthal, Ann Wessel, Deborah R. Stein, Adam Scott, Victor L. Fox, Amy Turner, Amy Kritzer, Farrah Rajabi, Katherine R. Peeler, Wen-Hann Tan> ;The Journal of Pediatrics. 2018 Jul 1
• 14 citations
  Updates in Newborn Screening.
  Farrah Rajabi> ;Pediatric Annals. 2018 May 1
• 4 citations
  Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female
  Farrah Rajabi, Lance H. Rodan, Maureen M. Jonas, Janet S. Soul, Nicole J. Ullrich, Ann Wessel, Susan E. Waisbren, Wen-Hann Tan, Gerard T. Berry> ;JIMD reports. 2017 Sep 9
• Confounding factors in identification of disease-resilient individuals
  David S. Rosenblatt, David Watkins, Farrah Rajabi, Harvey L. Levy> ;Nature Biotechnology. 2016 Nov 1
• 1 citations
  Hyperphenylalaninemia and the genomic revolution.
  Farrah Rajabi, Harvey L. Levy> ;Molecular Genetics and Metabolism. 2015 Mar 1
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Journal Articles

• Gain‐of‐Function Variants in the ODC1 Gene Cause a Syndromic Neurodevelopmental Disorder Associated with Macrocephaly, Alopecia, Dysmorphic Features, and Neuroimaging ...  
  Sanjeev V Kothare, Farrah Rajabi, Annapurna Poduri, Lance H Rodan, Ralph J DeBerardinis, American Journal of Medical Genetics Part A