GarrettKennethGotwayMDPhD

PubMed

• Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.
  Lea Abou Haidar, Panayotis Pachnis, Garrett K Gotway, Min Ni, Ralph J DeBerardinis, Markey C McNutt> ;JIMD Reports. 2023 Nov 1
• 1 citations
  Novel pathogenicvariants in a female with normal neurodevelopment.
  Lea Abou Haidar, Panayotis Pachnis, Hongli Chen, Garrett K Gotway, Min Ni, Ralph J DeBerardinis, Harris, R.> ;Cold Spring Harbor Molecular Case Studies. 2023 Dec 1
• 1 citations
  Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.
  Markey C McNutt, Nathan Foreman, Garrett Gotway> ;Movement Disorders Clinical Practice. 2023 Jan 1
• Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice.
  Guanglu Shi, Jing Xu, Shirelle F Barnes, Midhat S Farooqi, Hung S Luu, Garrett Gotway, Jason Y Park> ;The Journal of Pediatrics. 2022 Apr 1
• 10 citations
  Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
  Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Sant...> ;Therapeutic Advances in Musculoskeletal Disease. 2022 Jan 1
• 4 citations
  The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
  William D. Wood, Ayah Elmaghrabi, Garrett Gotway, Matthias T.F. Wolf> ;Pediatric Nephrology. 2021 Dec 2
• 52 citations
  Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
  Laura M Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael E. March, Divya Nair, Elliott H. Sherr...> ;Science Advances. 2020 Dec 2
• 4 citations
  Reinterpretation of Chromosomal Microarrays with Detailed Medical History
  Midhat S. Farooqi, Shirelle Figueroa, Garrett Gotway, Jason Wang, Hung S. Luu, Jason Y. Park> ;The Journal of Pediatrics. 2020 Jul 1
• 5 citations
  Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy
  Jeffrey A. SoRelle, Juan M. Pascual, Garrett Gotway, Jason Y. Park> ;JAMA Network Open. 2020 Apr 1
• 8 citations
  Clinical Exome Studies Have Inconsistent Coverage.
  Garrett Gotway, Eric Crossley, Julia Kozlitina, Chao Xing, Judy Fan, Callie Hornbuckle, Jenny Thies, Donnice Michel, Christine Quinn, Angela E. Scheuerle, Luis A. Umañ...> ;Clinical Chemistry. 2020 Jan 1
• 49 citations
  Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans
  Min Ni, Ashley Solmonson, Chunxiao Pan, Chendong Yang, Dan Li, Ashley Notzon, Ling Cai, Gerardo Guevara, Lauren G. Zacharias, Brandon Faubert, Hieu Sy Vu, Lei Jiang, B...> ;Cell Reports. 2019 Apr 30
• 39 citations
  Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients
  Jeffrey A. SoRelle, Drew Michael Thodeson, Susan Arnold, Garrett Gotway, Jason Y. Park> ;JAMA Pediatrics. 2019 Jan 1
• 4 citations
  A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay.
  Prabakaran Paulraj, Michelle Bosworth, Maria Longhurst, Callie Hornbuckle, Garrett Gotway, Allen N. Lamb, Erica F. Andersen> ;Cytogenetic and Genome Research. 2019 Jan 1
• 81 citations
  De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
  Karin Weiss, Paulien A Terhal, Lior Cohen, Michael Bruccoleri, Melita Irving, Ariel F. Martinez, Jill A. Rosenfeld, Keren Machol, Yaping Yang, Pengfei Liu, Magdalena W...> ;American Journal of Human Genetics. 2016 Oct 6
• 2 citations
  IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy
  Deepali Eksambe, Nnenna G. Agim, Naseem Uddin, Garrett Gotway, Juan M. Pascual> ;JAMA Neurology. 2015 Dec 1
• 31 citations
  Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency
  Stefan Stender, Rima S Chakrabarti, Chao Xing, Garrett Gotway, Jonathan C. Cohen, Helen H. Hobbs> ;Molecular Genetics and Metabolism. 2015 Dec 1
• 31 citations
  Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
  Yin-Hsiu Chien, Jose E. Abdenur, Federico Baronio, Allison Anne Bannick, Fernando J. Corrales, María L. Couce, Markus G. Donner, Can Ficicioglu, Cynthia Freehauf, Debo...> ;Orphanet Journal of Rare Diseases. 2015 Aug 20
• Genomic analyses of patients with unexplained early onset scoliosis.
  Gao, X.,Gotway, G.,Rathjen, K.,Johnston, C.,Sparagana, S.,Wise, C. A.> ;Spine Deform. 2014 Nov 18
• Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis.
  Xiaochong Gao, Garrett Gotway, Karl Rathjen, Charles Johnston, Steven Sparagana, Carol A Wise> ;Spine Deformity. 2014 Sep 1
• 47 citations
  Diagnostic yield of clinical next-generation sequencing panels for epilepsy.
  Jason Wang, Garrett Gotway, Juan M. Pascual, Jason Y. Park> ;JAMA Neurology. 2014 May 1
• Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient
  Carlos A Tirado, Garrett Gotway, Emmanuel K. Torgbe, Santha Iyer, Stephanie Dallaire, Taylor Appleberry, Mohamed Suterwala, Rolando Garcia, Federico Valdez, Sangeeta P...> ;American Journal of Medical Genetics. Part A. 2012 Jan 1
• 156 citations
  Human and mouse homologs of Escherichia coli DinB (DNA polymerase IV), members of the UmuC/DinB superfamily
  Valerie L. Gerlach, L. Aravind, Garrett Gotway, Roger A. Schultz, Eugene V. Koonin, Errol C. Friedberg> ;Proceedings of the National Academy of Sciences of the United States of America. 1999 Oct 12
• 125 citations
  Chromosomal Localization of a Human Mucin Gene (MUC8) and Cloning of the cDNA Corresponding to the Carboxy Terminus
  Viswanathan Shankar, Prabhasankar Pichan, Roger L. Eddy, Vijay Tonk, Norma J. Nowak, Sheila N.J. Sait, Thomas B. Shows, Roger E. Schultz, Garrett Gotway, Ronald C. Elk...> ;American Journal of Respiratory Cell and Molecular Biology. 1997 Mar 1
• 8p11-12 FGFR1 rearrangements in hematological malignancies: review of the literature.
  Jose, S., Gotway, G., Garcia, R., Vaziri, A., Tirado, C. A.> ;J Assoc Genet Technol. 2010
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Journal Articles

• Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients  
  Susan Arnold, Garrett Gotway, Jason Y Park, Drew M Thodeson, Jeffrey A SoRelle, JAMA