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Author
Jennifer A. Sullivan
also known as Cynthia J. Tifft, J A Sullivan, J. A. Sullivan
University of North Carolina at Chapel Hill · Duke University · Augusta University · Childhood Arthritis and Rheumatology Research Alliance
About this author
Works
211
Cited by
5,357
h-index
44
i10
89
ORCID ↗
Top papers
Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
Andrea Amalfitano, A. Resai Bengur, Richard P. Morse, et al.
·
2001
·
Genetics in Medicine
↗ 347
OA
Public Knowledge of and Attitudes Toward Genetics and Genetic Testing
Susanne B. Haga, William T. Barry, Rachel Mills, et al.
·
2013
·
Genetic Testing and Molecular Biomarkers
↗ 266
OA
Hepatocellular carcinoma in glycogen storage disease type Ia: A case series
Luis M. Franco, Venkat Krishnamurthy, Deeksha Bali, et al.
·
2004
·
Journal of Inherited Metabolic Disease
↗ 215
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders
Allyn McConkie Rosell, Loren Peña, Kelly Schoch, et al.
·
2016
·
Journal of Genetic Counseling
↗ 129
OA
Analysis of polymorphism in porcine MHC class I genes: alterations in signals recognized by human cytotoxic lymphocytes
Jennifer A. Sullivan, H F Oettinger, Daniela Sachs, et al.
·
1997
·
The Journal of Immunology
↗ 127
Cholinergic therapy for Down's syndrome
Priya S. Kishnani, Jennifer A. Sullivan, Barbara Keith Walter, et al.
·
1999
·
The Lancet
↗ 122
Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants
Tristan T. Sands, Francesco Miceli, Gaëtan Lesca, et al.
·
2019
·
Annals of Neurology
↗ 116
OA
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
Undiagnosed Diseases Network, Rebecca C. Spillmann, Allyn McConkie‐Rosell, et al.
·
2017
·
Orphanet Journal of Rare Diseases
↗ 93
OA
Recombinant human acid ??-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
Andrea Amalfitano, A. Resai Bengur, Richard P. Morse, et al.
·
2001
·
Genetics in Medicine
↗ 91
Parental attitudes regarding carrier testing in children at risk for fragile X syndrome
Allyn McConkie‐Rosell, Gail A. Spiridigliozzi, Kathleen A. Rounds, et al.
·
1999
·
American Journal of Medical Genetics
↗ 89
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Keren Machol, Justine Rousseau, Sophie Ehresmann, et al.
·
2018
·
The American Journal of Human Genetics
↗ 88
OA
Translational Fidelity of Intrathecal Delivery of Self-Complementary AAV9–Survival Motor Neuron 1 for Spinal Muscular Atrophy
Marco A. Passini, Jie Bu, Amy M. Richards, et al.
·
2014
·
Human Gene Therapy
↗ 87