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Author Details

Anna C E Hurst
2017
53
13
PMIDPaper TitleJournal TitlePublished Year
37860969DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.Genet Med2024
37962958Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.J Clin Invest2024
37161864Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.Genet Med2023
36071576Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.Clin Genet2023
37750194A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program.2023
38050656Listening to patients with suspected genetic diagnoses: A narrative perspective.2023
36586412Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.Am J Hum Genet2023
36711854Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.bioRxiv2023
36649687Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.Horm Res Paediatr2023
36484420Perspectives on the future of dysmorphology.Am J Med Genet A2023
37196654The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.Am J Hum Genet2023
36873089Compound heterozygous variants within two conserved sialyltransferase motifs of cause GM3 synthase deficiency.2023
37433783Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.Nat Commun2023
37511639Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.J Pers Med2023
34930662Genome sequencing as a first-line diagnostic test for hospitalized infants.Genet Med2022
35394429PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.Genet Med2022
35887345DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental Syndrome.Int J Mol Sci2022
35571680<i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.HGG Adv2022
35737950Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.Brain2022
35730652The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.Hum Mutat2022
36263329Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome.Front Endocrinol (Lausanne)2022
36195708Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity.Eur J Hum Genet2022
36414972Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.Genome Med2022
36315135Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.JAMA Neurol2022
34906456Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.Genet Med2022
35232796Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndrome.J Med Genet2022
35139179Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.Brain2022
35051358Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.Am J Hum Genet2022
34400813PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.Genet Med2021
34296759Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.Clin Genet2021
33961779Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.Am J Hum Genet2021
33951726Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.J Exp Med2021
33568546Association of De Novo <i>RNF213</i> Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.Neurology2021
33522091Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.Am J Med Genet A2021
33597769DLG4-related synaptopathy: a new rare brain disorder.Genet Med2021
32989269Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.Genet Med2021
32901138A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.Eur J Hum Genet2021
34405946Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.American Journal of Medical Genetics, Part A2021
33268356Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients.Sci Adv2020
31600545Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.J Allergy Clin Immunol2020
32192103Dysmorphology in the Era of Genomic Diagnosis.Journal of Personalized Medicine2020
31769566Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.Hum Mutat2020
32802946<i>Fibulin-5</i> mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.Neurol Genet2020
31152168De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.Hum Mol Genet2019
31693574Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes.Current Opinion in Pediatrics2019
31630789RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.American Journal of Human Genetics2019
31250568Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).Mol Genet Genomic Med2019
29121791Unexpected Survivors: Children With Life-Limiting Conditions of Uncertain Prognosis.2018
30407972Facial recognition software in clinical dysmorphology.Current Opinion in Pediatrics2018
30598700Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.Mol Cytogenet2018
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