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Author Details

Jennifer A Sullivan
Duke University School of Medicine
1999
54
22
PMIDPaper TitleJournal TitlePublished Year
36706750Exome/Genome Sequencing in Undiagnosed Syndromes.Annu Rev Med2023
37005744Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.J Genet Couns2023
36724785Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.Am J Hum Genet2023
34115423Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.J Genet Couns2022
35300924Expanding the phenotypic spectrum of ARCN1-related syndrome.Genet Med2022
35108495Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.Am J Hum Genet2022
33106617The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.Genet Med2021
33942428Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.Hum Mutat2021
34042254TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.Am J Med Genet A2021
34003604De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.Am J Med Genet A2021
31550240SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.J Clin Invest2020
32730690Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.Mol Genet Genomic Med2020
32445275A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.Am J Med Genet A2020
30580808Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.Am J Hum Genet2019
31353023De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.Am J Hum Genet2019
31177578Autism and developmental disability caused by KCNQ3 gain-of-function variants.Ann Neurol2019
31264822Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.Hum Mutat2019
31402090De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.Am J Hum Genet2019
31448412The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.Clin Genet2019
30827496Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.Am J Hum 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
28763149Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?Am J Med Genet A2017
28416019A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.Orphanet J Rare Dis2017
26868367Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.J Genet Couns2016
24664877Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease.JIMD Rep2015
23406207Public knowledge of and attitudes toward genetics and genetic testing.Genet Test Mol Biomarkers2013
20092831Stone forming risk factors in patients with type Ia glycogen storage disease.J Urol2010
17853454Sibling phenotype concordance in classical infantile Pompe disease.Am J Med Genet A2007
17542008Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: a clinical report series.Am J Med Genet A2007
17637480Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia.J Hepatol2007
17705024Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.J Inherit Metab Dis2007
16466958Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.Mol Genet Metab2006
17201619Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study.J Child Adolesc Psychopharmacol2006
16838317Clinical trials in children with Down syndrome: issues from a cognitive research perspective.Am J Med Genet C Semin Med Genet2006
15877204Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.J Inherit Metab Dis2005
15096417Donepezil use in Down syndrome.Arch Neurol2004
15669686Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.J Inherit Metab Dis2004
15378553Donepezil effects on language in children with Down syndrome: results of the first 22-week pilot clinical trial.Am J Med Genet A2004
12494428Donepezil for the treatment of language deficits in adults with Down syndrome: a preliminary 24-week open trial.Am J Med Genet A2003
26142380Editorial Notes.J Genet Couns2003
26141069Genetic Library.J Genet Couns2003
12116269Carrier testing in fragile X syndrome: when to tell and test.Am J Med Genet2002
26141999Editorial.J Genet Couns2002
26141859Genetic Library.J Genet Couns2002
26141557Editorial Introduction.J Genet Couns2002
12001186Prenatal diagnosis in glycogen storage diseases.Prenat Diagn2002
11136652Donepezil for Down's syndrome.Am J Psychiatry2001
11286229Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.Genet Med2001
11426454Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.Am J Med Genet2001
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Collaborators

Vandana Shashi
Duke University School of Medicine
Co-authored papers 23
Allyn McConkie-Rosell
Duke University School of Medicine and Duke Health System
Co-authored papers 15
Kelly Schoch
Duke University School of Medicine
Co-authored papers 10
Rebecca C Spillmann
Duke University School of Medicine
Co-authored papers 9
Yong-Hui Jiang
Yale University School of Medicine
Co-authored papers 6
Pudugramam Murali Doraiswamy
Duke University School of Medicine
Co-authored papers 5
Stephen R Hooper
University of North Carolina-Chapel Hill
Co-authored papers 5
Loren D M Pena
Duke University Medical Center
Co-authored papers 4
Nicole Walley
Duke University School of Medicine and Duke Health System
Co-authored papers 4
David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 4
Heidi Cope
GenOmics and Translational Research Center
Co-authored papers 4
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 3
Yuan-Tsong Chen
Co-authored papers 3
Eric W Klee
Mayo Clinic College of Medicine and Science
Co-authored papers 2
Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 2
James R Lupski
Baylor College of Medicine
Co-authored papers 2
Tony Roscioli
Prince of Wales Hospital
Co-authored papers 2
Dong Li
Co-authored papers 2
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 2
Erin L Heinzen
University of North Carolina at Chapel Hill.
Co-authored papers 2
Zeynep Coban Akdemir
Baylor College of Medicine
Co-authored papers 2
John A Phillips
Vanderbilt University Medical Center
Co-authored papers 2
Camilla Sanders
Duke University Medical Center
Co-authored papers 1
Donna M Martin
University of Michigan ann arbor
Co-authored papers 1
Ian D Krantz
Children's Hospital of Philadelphia
Co-authored papers 1
Julie S Cohen
Kennedy Krieger Institute
Co-authored papers 1
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Andrew C Edmondson
Co-authored papers 1
Yaping Yang
Baylor College of Medicine
Co-authored papers 1
Richard Holt
Oxford Brookes University
Co-authored papers 1
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