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Author Details

Allyn McConkie-Rosell
Duke University School of Medicine and Duke Health System
1989
88
30
PMIDPaper TitleJournal TitlePublished Year
36307226Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>.Neurology2023
37667351Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.Orphanet J Rare Dis2023
37186866The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase.Proc Natl Acad Sci U S A2023
37005744Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.J Genet Couns2023
37361657High performing male with fragile X syndrome with an unmethylated <i>FMR1</i> full mutation: The relevance of clinical and genetic correlations.Clin Case Rep2023
34115423Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.J Genet Couns2022
35931051Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.Am J Hum Genet2022
34117073Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <i>AIFM1</i> variant.Cold Spring Harb Mol Case Stud2021
33788978Men with an FMR1 premutation and their health education needs.J Genet Couns2021
33846581Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.Genet Med2021
35047859Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.HGG Adv2021
34211179Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Nat Genet2021
32366967Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.Genet Med2020
32043468Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.Epileptic Disord2020
33199684Germline AGO2 mutations impair RNA interference and human neurological development.Nat Commun2020
32442410De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.Am J Hum Genet2020
30680851Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.J Genet Couns2019
29907797A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.Genet Med2019
31585109De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.Am J Hum Genet2019
31400068HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.Am J Med Genet A2019
31448412The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.Clin Genet2019
30964587INTRODUCTION TO EXPLORING THE EXOME SPECIAL ISSUE.J Genet Couns2019
28914269Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.Genet Med2018
30134969Characteristics of undiagnosed diseases network applicants: implications for referring providers.BMC Health Serv Res2018
30250212Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.J Hum Genet2018
29726930Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Hum Mol Genet2018
29497923Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.J Genet Couns2018
29704315Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.Am J Med Genet B Neuropsychiatr Genet2018
29297108Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?J Genet Couns2018
28729373The importance of managing the patient and not the gene: expanded phenotype of <i>GLE1</i>-associated arthrogryposis.Cold Spring Harb Mol Case Stud2017
28416019A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.Orphanet J Rare Dis2017
28111752Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.Clin Genet2017
28132692A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.Am J Hum Genet2017
25678066Practical considerations in the clinical application of whole-exome sequencing.Clin Genet2016
27148580De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.Cold Spring Harb Mol Case Stud2016
27119313Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.Pediatr Res2016
26868367Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.J Genet Couns2016
25871427Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention.J Intellect Disabil Res2015
26369628Quinidine in the treatment of KCNT1-positive epilepsies.Ann Neurol2015
23505205Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.Hum Mutat2013
21826579Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome.J Genet Couns2012
23129072Newborn, carrier, and early childhood screening recommendations for fragile X.Pediatrics2012
22797890Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.J Genet Couns2012
22207396Celebrating the 20th anniversary of the Journal of Genetic Counseling.J Genet Couns2012
20878219Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective.J Genet Couns2011
20629912Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample.J Intellect Disabil Res2010
20680421Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling.J Genet Couns2010
19277853Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome.J Genet Couns2009
19449413When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families.Am J Med Genet A2009
18200514Living with genetic risk: effect on adolescent self-concept.Am J Med Genet C Semin Med Genet2008
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Collaborators

Duke University School of Medicine
Co-authored papers 18
Duke University School of Medicine
Co-authored papers 18
Yale University School of Medicine
Co-authored papers 15
Duke University School of Medicine
Co-authored papers 15
Duke University School of Medicine
Co-authored papers 12
University of North Carolina-Chapel Hill
Co-authored papers 9
Duke University Medical Center
Co-authored papers 8
Duke University School of Medicine and Duke Health System
Co-authored papers 8
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 7
GenOmics and Translational Research Center
Co-authored papers 5
Section of Clinical Genetics and Metabolism, University of Colorado
Co-authored papers 4
Duke University Medical Center
Co-authored papers 3
University of Washington
Co-authored papers 3
Duke University School of Medicine
Co-authored papers 3
Boston Children's Hospital, Harvard Medical School
Co-authored papers 3
National Institute on Drug Abuse
Co-authored papers 3
Co-authored papers 2
Co-authored papers 2
Baylor College of Medicine
Co-authored papers 2
Vanderbilt Genetics Institute, Vanderbilt University Medical Center
Co-authored papers 2
Co-authored papers 2
Imperial College London
Co-authored papers 2
University of Manchester
Co-authored papers 2
Baylor College of Medicine
Co-authored papers 2
Baylor College of Medicine
Co-authored papers 2
Baylor College of Medicine
Co-authored papers 2
Baylor College of Medicine
Co-authored papers 2
Northwestern University Feinberg School of Medicine
Co-authored papers 1
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