John A. Phillips

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 4%percentile

0.678Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63904

Top 51%

0.340DataRank

Top 51%7 citations

Rory J. Tinker, Stephanie Bivona, Carson Smith, Theodore Krijnse Locker, Samuela A. Fernandes +7 more

Papers

Driven by 21 papers — median percentile 49. Top paper: “Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network”.

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63904

Top 51%

0.340DataRank

Top 51%7 citations

Rory J. Tinker, Stephanie Bivona, Carson Smith, Theodore Krijnse Locker, Samuela A. Fernandes +7 more

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63888

Top 52%

0.338DataRank

Top 52%7 citations

Rory J. Tinker, Yutaka Furuta, Undiagnosed Diseases Network, John A. Phillips, Alex F. Gimeno

Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.010

N/A

0DataRank · unranked

60 citations

Joy D. Cogan, John H. Newman, John A. Phillips, Rizwan Hamid, Jens Meiler +2 more

Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants

Neurology(2021)10.1212/wnl.0000000000012143

N/A

0DataRank · unranked

15 citations

Karen M. Joos, John A. Phillips, Joy D. Cogan, John H. Newman, Rizwan Hamid +10 more

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

Molecular Case Studies(2021)10.1101/mcs.a005827

N/A

0DataRank · unranked

30 citations

Melissa Walker, Frances A. High, Cynthia A. Cooper, Cassandra A. Rogers, Christine J. Callahan +14 more

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

Journal of Clinical Investigation(2022)10.1172/jci154942

N/A

0DataRank · unranked

37 citations

Erica T. Nelson, Lefkothea Karaviti, Joy D. Cogan, Rizwan Hamid, John A. Phillips +1 more

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100131

N/A

0DataRank · unranked

11 citations

Thomas Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen +13 more

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

Human Mutation(2022)10.1002/humu.24497

N/A

0DataRank · unranked

6 citations

Wenmiao Zhu, Bo Yuan, Nicole Walley, Kelly Schoch, Yong‐hui Jiang +10 more

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

medRxiv(2022)10.1101/2022.02.01.21268115

N/A

0DataRank · unranked

1 citations

Thomas Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen +14 more

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63309

N/A

0DataRank · unranked

19 citations

Lisa Bastarache, Kimberly Ezell, Shilpa N. Kobren, Cecilia Esteves, Jill A. Rosenfeld +10 more

A medical odyssey of a 72‐year‐old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63383

N/A

0DataRank · unranked

5 citations

Erica T. Nelson, Serena Neumann, John A. Phillips, Rizwan Hamid, Rory J. Tinker +5 more

Probable digenic inheritance of Diamond–Blackfan anemia

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63454

N/A

0DataRank · unranked

4 citations

Rory J. Tinker, Alican Gulsevin, Serena Neumann, Rizwan Hamid, Joy D. Cogan +7 more

A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male

Metabolites(2023)10.3390/metabo13030399

N/A

0DataRank · unranked

0 citations

John H. Newman, Laura Sommerville, John A. Phillips, Rizwan Hamid, Joy D. Cogan +5 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

N/A

0DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03423-3

N/A

0DataRank · unranked

8 citations

Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly Ezell, Devin Oglesbee +4 more

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63597

N/A

0DataRank · unranked

5 citations

Rory J. Tinker, Yutaka Furuta, Alican Gulsevin, Lisa Bastarache, Rizwan Hamid +8 more

Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models

medRxiv(2024)10.1101/2024.09.27.24314092

N/A

0DataRank · unranked

0 citations

Nikhita Gogate, Kim Ezell, Jonathan C. Andrews, Sharayu Jangam, Paige I. Hall +19 more

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64233

N/A

0DataRank · unranked

1 citations

Kimberly Ezell, Deanna S. Bell, Brian Corner, Ashley McMinn, Joy D. Cogan +16 more

Defining the clinical phenotype of Saul–Wilson syndrome

Genetics in Medicine(2020)10.1038/s41436-019-0737-1

N/A

0DataRank · unranked

21 citations

Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth Berger, William G. Wilson +26 more

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses

Molecular Genetics & Genomic Medicine(2025)10.1002/mgg3.70165

N/A

0DataRank · unranked

0 citations

Kimberly Ezell, Rizwan Hamid, Joy D. Cogan, Thomas Cassini, Lynette Rives +23 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

John A. Phillips

Indexed papers

Top data-sharing exemplar

Papers