Jennifer A. Sullivan

University of North Carolina at Chapel Hill

Also affiliated with Duke University, Augusta University, Childhood Arthritis and Rheumatology Research Alliance, Duke Medical Center

Biochemistry, Genetics and Molecular BiologyArts and HumanitiesNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 16 papers. Top paper: “SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia”.

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1397

N/A

0DataRank · unranked

25 citations

Rebecca C. Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch +17 more

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62347

N/A

0DataRank · unranked

20 citations

Alejandro Ferrer, Carla Nishimura, Filippo Pinto e Vairo, Tristan Rey, Bruno Leheup +27 more

Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

Journal of Genetic Counseling(2021)10.1002/jgc4.1451

N/A

0DataRank · unranked

4 citations

Kelly Schoch, Jennifer A. Sullivan, Rebecca C. Spillmann, Heidi Cope, Queenie K.‐G. Tan +5 more

Exome/Genome Sequencing in Undiagnosed Syndromes

Annual Review of Medicine(2023)10.1146/annurev-med-042921-110721

N/A

0DataRank · unranked

56 citations

Kelly Schoch, Rebecca C. Spillmann, Vandana Shashi, Jennifer A. Sullivan

Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

Journal of Genetic Counseling(2023)10.1002/jgc4.1707

N/A

0DataRank · unranked

13 citations

Rebecca C. Spillmann, Kelly Schoch, Jennifer A. Sullivan, Nicole Walley, Marie McDonald +4 more

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.01.006

N/A

0DataRank · unranked

6 citations

Marisol Cortés, Periklis Makrythanasis, Mohnish Suri, Alexander M. Taylor, Jennifer A. Sullivan +44 more

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.001

N/A

0DataRank · unranked

13 citations

Maria Carla Borroto, Sadegheh Haghshenas, A Namasivayam, Jack Reilly, Michael A. Levy +61 more

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

Human Molecular Genetics(2024)10.1093/hmg/ddae166

N/A

0DataRank · unranked

8 citations

Chian Ju Jong, Ronald A. Merrill, Grace J Kollman, Austin H Paden, Eric G. Bend +10 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

UNC Libraries(2024)10.17615/43a6-jz46

N/A

0DataRank · unranked

1 citations

Jennifer A. Sullivan, Ronald A. Merrill, Rolph Pfundt, Louise S. Bicknell, Priyanka Sandal +10 more

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

Nature Medicine(2025)10.1038/s41591-025-03945-8

N/A

0DataRank · unranked

7 citations

Elizabeth Jalazo, Jonathan S. Berg, Jennifer A. Sullivan, Katerina S. Kucera, Scott M. Shone +24 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more