LauraSchochFarachMD

PubMed

• Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.
  Melissa A Richard, Philip J Lupo, Erik A Ehli, Mustafa Sahin, Darcy A Krueger, Joyce Y Wu, Elizabeth M Bebin, Kit Sing Au, Hope Northrup, Laura S Farach> ;American Journal of Medical Genetics. Part A. 2024 Jun 1
• Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American origin.
  Shelby L Mills, Paige Roberts, Myla Ashfaq, Kathryn Leal, Hope Northrup, Deborah L Brown, David Rodriguez-Buritica, Laura S Farach> ;JIMD Reports. 2023 Nov 1
• Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.
  Laura S Farach, Hope Northrup, Mark Nellist, Leontine van Unen, Paul Hillman, Katarzyna Klonowska, Rosemary Ekong, Peter B Crino, Kit Sing Au> ;Gene. 2023 Aug 15
• 2 citations
  Massive macroglossia, a rare side effect of COVID-19: clinical, histologic, and genomic findings in COVID-19-positive versus COVID-19-negative patients.
  Victoria A Mañón, David Chubb, Laura S Farach, Rachid Karam, Mary C Farach-Carson, Nadarajah Vigneswaran, Karan Saluja, Simon Young, Mark Wong, James C Melville> ;Oral and Maxillofacial Surgery. 2022 Dec 1
• 4 citations
  Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal period.
  Abigail Kacpura, Marta Frigeni, Kathryn Gunther, Laura Farach> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
• 1 citations
  NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
  Elizabeth Langley, Laura S Farach, Mary K Koenig, Hope Northrup, David F Rodriguez-Buritica, Kate Mowrey> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
• Case Report: Novel pathogenic variant inin two sisters with Malan syndrome due to germline mosaicism.
  Elizabeth Langley, Laura S Farach, Kate Mowrey> ;Frontiers in Genetics. 2022 Jan 1
• 5 citations
  A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration.
  Stuart Fraser, Mary Kay Koenig, Laura S. Farach, Pedro Mancias, Kate Mowrey> ;Molecular Genetics & Genomic Medicine. 2021 May 27
• 1 citations
  Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication synd...
  Kathryn Gunther, Kate Mowrey, Laura S. Farach> ;Clinical Case Reports. 2021 Jan 27
• 2 citations
  Exploring the predicted yield of prenatal testing by evaluating a postnatal population with structural abnormalities using a novel mathematical model.
  S. Shahrukh Hashmi, Anthony Johnson, Myla Ashfaq, Laura S. Farach, Claire N. Singletary, Blair K. Stevens> ;Prenatal Diagnosis. 2021 Feb 1
• 10 citations
  Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.
  Laura S. Farach, Melissa A. Richard, Philip J. Lupo, Darcy A. Krueger, Joyce Y. Wu, E. M. Bebin, Kit Sing Au, Hope Northrup> ;Pediatric Neurology. 2020 Jul 29
• 2 citations
  The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variants.
  Stephanie M Baskin, Shaine A. Morris, Autumn Vara, Jacqueline T. Hecht, Laura S. Farach> ;American Journal of Medical Genetics. Part A. 2020 Sep 15
• 2 citations
  Impacts of genesurance considerations on genetic counselors' practice and attitudes
  Emily Thoreson, Lauren Murphy, Jennifer Lemons, Laura S. Farach, Kate Wilson, Ashley H. Woodson, Chelsea Wagner> ;Journal of Genetic Counseling. 2020 May 20
• 18 citations
  De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Genetics in Medicine. 2020 Mar 1
• 21 citations
  Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Pediatric Neurology. 2019 Jul 1
• 11 citations
  A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.
  Victoria F. Wagner, Paul Hillman, Allison D. Britt, Joseph W. Ray, Laura S. Farach> ;American Journal of Medical Genetics. Part A. 2019 May 1
• 7 citations
  The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health Treatment.
  Kate Mowrey, Myla Ashfaq, Deborah A. Pearson, S. Shahrukh Hashmi, Steven L. Roberds, Laura S. Farach, Hope Northrup> ;Pediatric Neurology. 2019 Feb 1
• 4 citations
  Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions:
  Sara Wofford, Sarah Noblin, Jessica M. Davis, Laura S. Farach, S. Shahrukh Hashmi, Pedro Mancias, Victoria F. Wagner> ;Journal of Child Neurology. 2019 Jan 4
• 32 citations
  The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
  Laura S. Farach, Mary Ellen Little, Angela L. Duker, Clare V. Logan, Andrew P. Jackson, Jaqueline T. Hecht, Michael B. Bober> ;American Journal of Medical Genetics. Part A. 2018 Feb 1
• 95 citations
  YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
  Michele Gabriele, Anneke T. Vulto-van Silfhout, Pierre-Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, An...> ;American Journal of Human Genetics. 2017 Jun 1
• 12 citations
  TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
  Laura S. Farach, William T. Gibson, Steven Sparagana, Mark Nellist, Connie T.R.M. Stumpel, Marja Hietala, Elliott R. Friedman, Deborah A. Pearson, Susan P. Creighton, ...> ;American Journal of Medical Genetics. Part A. 2017 Mar 1
• 20 citations
  KIAA2022 nonsense mutation in a symptomatic female.
  Laura S. Farach, Hope Northrup> ;American Journal of Medical Genetics. Part A. 2016 Mar 1
• 81 citations
  Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
  Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, Levi B. Watkin, Theodore Chiang, Magalie S. Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y....> ;American Journal of Human Genetics. 2016 Feb 4
• 5 citations
  Therapeutic challenges in treating patients with fragile X syndrome and neoplasia.
  Andrew M. Farach, Laura S. Farach, Arnold C. Paulino> ;Pediatric Blood & Cancer. 2013 Dec 1
• Radiological case of the month. Obstructing annular pancreas.
  Marsh Td, Farach L, Wood Bp> ;American Journal of Diseases of Children. 1990 Apr 1
• Join now to see all