• Anna C.E. Hurst, MD, MS, is an associate professor of medical genetics in the department of genetics at the University of Alabama at Birmingham and an adjunct faculty member at the HudsonAlpha Institute for Biotechnology. She trained as a genetic counselor at the University of South Carolina School of Medicine (Columbia) and then completed her medical degree at the Medical University of South Carolina (Charleston). She is a board-certified pediatrician who completed pediatrics residency at Wake Forest Baptist Health (Winston-Salem, NC) and a medical genetics residency at UAB.

    Dr. Hurst is a clinician for the UAB Undiagnosed Disease Program, Turner syndrome clinic, and general genetics, and she provides genetic inpatient hospital consultations for patients at UAB and Children’s of Alabama. Her clinical interests include dysmorphology and congenital anomaly syndrome delineation, and she serves on the Scientific Advisory Board for Facial Dysmorphology Novel Analysis (FDNA). Her research focuses on expanding the availability of genomic sequencing for children with complex healthcare needs and incorporating phenotypic information into the interpretation of genomic data. She also has an interest in education and serves as the residency program director for the UAB Medical Genetics Residency Programs and as the medical director of the UAB Genetic Counseling Training Program.
  • Selected Publications

    Academic Article

    Year Title Altmetric
    2023 Perspectives on the future of dysmorphologyAmerican Journal of Medical Genetics Part A.  191:659-671. 2023
    2023 Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotypeAmerican Journal of Human Genetics.  110:215-227. 2023
    2023 Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients 2023
    2022 Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology 2022
    2022 Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeJAMA Neurology.  79:1267-1276. 2022
    2022 Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validityEuropean Journal of Human Genetics.  30:1423-1431. 2022
    2022 Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing 2022
    2022 The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlationsHuman Mutation.  43:1377-1395. 2022
    2022 De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayHGG Advances.  3. 2022
    2022 DNA Methylation Signature for JARID2-Neurodevelopmental SyndromeInternational Journal of Molecular Sciences.  23. 2022
    2022 Erratum: PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families (Genet Med (2021) 23(2415-2425))(s41436021012966)(10.1038/s41436-021-01296-6))Genetics in Medicine.  24:967. 2022
    2022 Genome sequencing as a first-line diagnostic test for hospitalized infantsGenetics in Medicine.  24:851-861. 2022
    2022 Consolidation of the clinical and genetic definition of a SOX4- related neurodevelopmental syndromeJournal of Medical Genetics.  59:1058-1068. 2022
    2022 Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderAmerican Journal of Human Genetics.  109:361-372. 2022
    2022 Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotypeGenetics in Medicine.  24:179-191. 2022
    2021 PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesGenetics in Medicine.  23:2415-2425. 2021
    2021 Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndromeAmerican Journal of Medical Genetics Part A.  185:3916-3923. 2021
    2021 Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 2021
    2021 Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyAmerican Journal of Human Genetics.  108:857-873. 2021
    2021 Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patientsJournal of Experimental Medicine.  218. 2021
    2021 DLG4-related synaptopathy: a new rare brain disorderGenetics in Medicine.  23:888-899. 2021
    2021 Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesAmerican Journal of Medical Genetics Part A.  185:1366-1378. 2021
    2021 A state-based approach to genomics for rare disease and population screeningGenetics in Medicine.  23:777-781. 2021
    2021 Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive VasculopathyNeurology.  96:E1783-E1791. 2021
    2021 A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeEuropean Journal of Human Genetics.  29:271-279. 2021
    2021 Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfallsGenetics in Medicine.  23:280-288. 2021
    2020 Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patientsScience Advances.  6. 2020
    2020 Dysmorphology in the era of genomic diagnosisJournal of Personalized Medicine.  10. 2020
    2020 Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyHuman Mutation.  41:641-654. 2020
    2020 Clinical diagnosis through whole-genome sequencing 2020
    2020 Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis 2020
    2020 Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndromeJournal of Allergy and Clinical Immunology.  145:358-367.e2. 2020
    2019 Editorial: Neonatal management of achondroplasia: One hospital's geosocial approach to improve patient outcomesCurrent Opinion in Pediatrics.  31:691-693. 2019
    2019 Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes.Current Opinion in Pediatrics.  31:691-693. 2019
    2019 RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureAmerican Journal of Human Genetics.  105:1040-1047. 2019
    2019 De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesHuman Molecular Genetics.  28:2937-2951. 2019
    2019 Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion)Molecular Genetics and Genomic Medicine.  7. 2019
    2018 Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: A case reportMolecular Cytogenetics.  11. 2018
    2018 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delayPLoS Genetics.  14. 2018
    2018 Unexpected Survivors: Children With Life-Limiting Conditions of Uncertain Prognosis 2018
    2018 Facial recognition software in clinical dysmorphologyCurrent Opinion in Pediatrics.  30:701-706. 2018
    2017 Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomyJournal of Clinical Lipidology.  11:757-762. 2017
    2017 Foramen magnum compression in Coffin–Lowry syndrome: A case reportAmerican Journal of Medical Genetics Part A.  173:1087-1089. 2017
    2011 Autism in two females with duplications involving Xp11.22-p11.23.Developmental Medicine and Child Neurology.  53:463-466. 2011
    1993 Disorders of GNAS Inactivation 1993


    Year Title Altmetric
    2018 The Genetic Evaluation of a Child With Cancer.  21-31. 2018
    2017 The Genetic Evaluation of a Child With Cancer.  21-31. 2017

    Research Overview

  • Clinical genetics (general genetics, skeletal dysplasia, Turner syndrome, Undiagnosed Disease Program)
    Syndrome delineation
    Dysmorphology and advancing technologies
    Phenotype integration in genomic sequencing
    Care coordination for children with complex medical needs
  • Education And Training

  • University of Alabama at Birmingham, Residency
  • Wake Forest University Baptist Medical Center, Residency
  • Unive, Postdoctoral Fellowship
  • Doctor of Medicine, Medical University of South Carolina 2011
  • Master of Science in Genetic Counseling / Counselor, 2007
  • Master of Science in Genetic Counseling / Counselor, University of South Carolina System : Columbia 2007
  • Full Name

  • Anna Hurst