Linda M. Randolph, MD

Associate Professor of Clinical Pediatrics

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Publications

  • A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis Genes Dis. 2024 May; 11(3):101025. . View in PubMed
  • Infant with Asymmetric Crying Facies Neoreviews. 2023 01 01; 24(1):47-50. . View in PubMed
  • Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care Genet Med. 2021 10; 23(10):1854-1863. . View in PubMed
  • When moments matter: Finding answers with rapid exome sequencing Mol Genet Genomic Med. 2020 02; 8(2):e1027. . View in PubMed
  • Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning JAMA Netw Open. 2020 11 02; 3(11):e2022199. . View in PubMed
  • PEDIA: prioritization of exome data by image analysis Genet Med. 2019 12; 21(12):2807-2814. . View in PubMed
  • Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management Genet Med. 2019 11; 21(11):2644-2649. . View in PubMed
  • Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 04; 21(4):867-876. . View in PubMed
  • Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 03; 21(3):764-765. . View in PubMed
  • Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation Osteoporos Int. 2018 Nov; 29(11):2575-2579. . View in PubMed
  • 8-Month-Old Boy with Ataxia after Ingestion of Cow’s Milk Clin Chem. 2018 03; 64(3):611-613. . View in PubMed
  • Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA Prenat Diagn. 2017 03; 37(3):296-298. . View in PubMed
  • Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation Fetal Diagn Ther. 2017; 41(3):234-236. . View in PubMed
  • Phenotype of 7q1123 duplication: A family clinical series. Am J Med Genet A. 2017 Jan; 173(1):114-119. . View in PubMed
  • High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting pArg1809: Genotype-Phenotype Correlation. Hum Mutat. 2015 Nov; 36(11):1052-63. . View in PubMed
  • Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility Eur J Hum Genet. 2015 May; 23(5):663-71. . View in PubMed
  • Treatment of alpha(0)-thalassemia (–(SEA)/–(SEA)) via serial fetal and post-natal transfusions: Can early fetal intervention improve outcomes? Hematology. 2015 May; 20(4):217-22.. View in PubMed
  • Absent aortic valve associated with double outlet right ventricle and aortopulmonary window: physiologic implications of a rare malformation in both the fetus and neonate Congenit Heart Dis. 2014 May-Jun; 9(3):E98-E104. . View in PubMed
  • The childless man Am J Med Genet A. 2014 Feb; 164A(2):561. . View in PubMed
  • Hepatoblastoma in a 15-month-old female with trisomy 13 Am J Med Genet A. 2014 Feb; 164A(2):472-5. . View in PubMed
  • Chimerism in monochorionic dizygotic twins: case study and review Am J Med Genet A. 2013 Jul; 161A(7):1817-24. . View in PubMed
  • Investigation of NRXN1 deletions: clinical and molecular characterization Am J Med Genet A. 2013 Apr; 161A(4):717-31. . View in PubMed
  • In utero detection of retinoblastoma with fetal magnetic resonance and ultrasound: initial experience AJP Rep. 2012 Nov; 2(1):55-62. . View in PubMed
  • Prevalence of noncardiac structural anomalies in twin-twin transfusion syndrome J Ultrasound Med. 2012 Apr; 31(4):555-60. . View in PubMed
  • Microdeletion del(22)(q122) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. BMC Med Genet. 2012 Mar 22; 13:19. . View in PubMed
  • Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder Mol Genet Metab. 2011 Feb; 102(2):149-52. . View in PubMed
  • Discordant blood chimerism in dizygotic monochorionic laser-treated twin-twin transfusion syndrome Obstet Gynecol. 2010 Aug; 116 Suppl 2:483-485. . View in PubMed
  • Hypoplastic left heart syndrome in patients with Kabuki syndrome Pediatr Cardiol. 2010 Jan; 31(1):138-41. . View in PubMed
  • Agenesis of the ductus venosus in a fetus with nonmosaic trisomy 22 Prenat Diagn. 2009 Sep; 29(9):901-2. . View in PubMed
  • L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung’s disease Pediatr Surg Int. 2009 Sep; 25(9):823-5. . View in PubMed
  • Intrauterine exposure to mycophenolate mofetil and multiple congenital anomalies in a newborn: possible teratogenic effect Am J Med Genet A. 2009 Jun; 149A(6):1231-6. . View in PubMed
  • Fetal microphthalmia diagnosed by magnetic resonance imaging Fetal Diagn Ther. 2008; 24(3):182-5. . View in PubMed