Joseph T.C. Shieh

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 21 papers. Top paper: “The role of exome sequencing in newborn screening for inborn errors of metabolism”.

The role of exome sequencing in newborn screening for inborn errors of metabolism

Nature Medicine(2020)10.1038/s41591-020-0966-5

N/A

0DataRank · unranked

260 citations

Renata C. Gallagher, Yaqiong Wang, Robert J. Currier, George S. Amatuni, Laia Bassaganyas +19 more

Automated syndrome diagnosis by three-dimensional facial imaging

Genetics in Medicine(2020)10.1038/s41436-020-0845-y

N/A

0DataRank · unranked

106 citations

J. David Aponte, David C. Katz, Jordan J. Bannister, Sheri L. Riccardi, Nick Mahasuwan +33 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

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61615

N/A

0DataRank · unranked

35 citations

Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph T.C. Shieh +26 more

Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders

medRxiv(2020)10.1101/2020.10.22.20216531

N/A

0DataRank · unranked

9 citations

Monica Penon‐Portmann, K. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Slavotinek +15 more

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

medRxiv(2020)10.1101/2020.08.31.20184481

N/A

0DataRank · unranked

3 citations

Keith A. Breau, Blake A. Creighton, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +63 more

Newborn Sequencing in Genomic Medicine and Public Health

UNC Libraries(2020)10.17615/p3y4-3s09

N/A

0DataRank · unranked

0 citations

Stacey Pereira, Sean D. Mooney, Anastasia L. Wise, Jennifer M. Puck, Timothy W. Yu +37 more

A dyadic approach to the delineation of diagnostic entities in clinical genomics

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.11.013

N/A

0DataRank · unranked

116 citations

Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck +42 more

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature Genetics(2021)10.1038/s41588-021-00886-z

N/A

0DataRank · unranked

108 citations

Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +70 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124

N/A

0DataRank · unranked

72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Application of full-genome analysis to diagnose rare monogenic disorders

npj Genomic Medicine(2021)10.1038/s41525-021-00241-5

N/A

0DataRank · unranked

53 citations

Monica Penon‐Portmann, K. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Slavotinek +15 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5

N/A

0DataRank · unranked

1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

The coxsackievirus and adenovirus receptor is a transmembrane component of the tight junction

UNC Libraries(2021)10.17615/v5ss-a196

N/A

0DataRank · unranked

0 citations

Jer Tsong Hsieh, Takatsugu Okegawa, Jeffrey M. Bergelson, Raymond J. Pickles, Joseph T.C. Shieh +1 more

CXCL14 Promotes a Robust Brain Tumor-Associated Immune Response in Glioma

Clinical Cancer Research(2022)10.1158/1078-0432.ccr-21-2830

N/A

0DataRank · unranked

66 citations

Esraa Mohamed, Schuyler Tong, Katharine Chen, Joydeep Mukherjee, Yunita Lim +12 more

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

npj Genomic Medicine(2023)10.1038/s41525-023-00353-0

N/A

0DataRank · unranked

43 citations

Shannon Rego, Nuriye Sahin‐Hodoglugil, Mark Kvale, Billie R. Lianoglou, Tiffany Yip +33 more

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

JCI Insight(2023)10.1172/jci.insight.155888

N/A

0DataRank · unranked

38 citations

Michael March, Christoph Seiler, Leticia S. Matsuoka, S Kim, Charlly Kao +28 more

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100236

N/A

0DataRank · unranked

17 citations

Jesus A Tintos-Hernández, Chaya N. Murali, Monica Penon‐Portmann, Marco Flores‐Méndez, Adrian Santana +12 more

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

medRxiv(2023)10.1101/2023.01.30.23285099

N/A

0DataRank · unranked

1 citations

Jesus A Tintos-Hernández, Chaya N. Murali, Monica Penon‐Portmann, Marco Flores‐Méndez, Adrian Santana +12 more

Data from CXCL14 Promotes a Robust Brain Tumor-Associated Immune Response in Glioma

(2023)10.1158/1078-0432.c.6531363.v1

N/A

0DataRank · unranked

1 citations

Esraa Mohamed, Schuyler Tong, Katharine Chen, Joydeep Mukherjee, Yunita Lim +12 more

Data from CXCL14 Promotes a Robust Brain Tumor-Associated Immune Response in Glioma

(2023)10.1158/1078-0432.c.6531363

N/A

0DataRank · unranked

0 citations

Esraa Mohamed, Schuyler Tong, Katharine Chen, Joydeep Mukherjee, Yunita Lim +12 more

Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy

Neurology Genetics(2024)10.1212/nxg.0000000000200142

N/A

0DataRank · unranked

2 citations

Cathryn R. Cadwell, W. Patrick Devine, Tarık Tihan, Zhongxia Qi, Nilika S. Singhal +9 more