Richard P. Lifton

Biochemistry, Genetics and Molecular BiologyMedicine

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

1in 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 1 indexed paper 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.

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma

UNC Libraries(2020)10.17615/b4zx-va72

Top 100%

0DataRank

Top 100%0 citations

Rong‐Hua Hu, Luis A. Diaz, Amy S. Paller, Ilana S. Rosman, Susan J. Bayliss +9 more

Papers

Driven by 45 papers — median percentile 0. Top paper: “The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus”.

The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus

Cell(2023)10.1016/j.cell.2023.01.017

N/A

2.7DataRank · unranked

145 citations

Benjamin C. Reeves, Emre Kiziltug, Phan Q. Duy, Jason K. Karimy, M. Shahid Mansuri +32 more

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Genome Medicine(2023)10.1186/s13073-023-01173-8

N/A

1.5DataRank · unranked

78 citations

Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry, Yoann Seeleuthner +95 more

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Science(2020)10.1126/science.abd4585

N/A

1.2DataRank · unranked

2821 citations

Lindsey B. Rosen, Qian Zhang, Eleftherios Michailidis, Hans-Heinrich Hoffmann, Yu Zhang +95 more

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The American Journal of Human Genetics(2015)10.1016/j.ajhg.2015.06.009

N/A

0.980DataRank · unranked

687 citations

Kati J. Buckingham, Shalini N. Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D. Smith +46 more

Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease

Quantitative Biology(2021)10.15302/j-qb-021-0248

N/A

0.269DataRank · unranked

5 citations

Xue Zeng, Chentian Jin, Sheng Chih Jin, Weilai Dong, Martina Brueckner +4 more

A genome-wide case-only test for the detection of digenic inheritance in human exomes

Proceedings of the National Academy of Sciences(2020)10.1073/pnas.1920650117

N/A

0DataRank · unranked

24 citations

Matthieu Bouaziz, Aurélie Cobat, Benedetta Bigio, Andrew T. Timberlake, Jacinta Bustamante +4 more

Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.05.013

N/A

0DataRank · unranked

23 citations

Jing Zhou, Rong‐Hua Hu, Theodore Zaki, Erin Loring, Jared Scott +5 more

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma

UNC Libraries(2020)10.17615/b4zx-va72

Top 100%

0DataRank

Top 100%0 citations

Rong‐Hua Hu, Luis A. Diaz, Amy S. Paller, Ilana S. Rosman, Susan J. Bayliss +9 more

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Nature Medicine(2021)10.1038/s41591-021-01388-5

N/A

0DataRank · unranked

112 citations

Rui Yang, Caner Aytekin, David Langlais, Mathieu Bourgey, Taushif Khan +50 more

Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice

Frontiers in Cell and Developmental Biology(2021)10.3389/fcell.2021.662903

N/A

0DataRank · unranked

78 citations

Shoaib Nawaz, Jungmin Choi, Huafeng Wang, Shabir Hussain, Mehboob Nawaz +12 more

GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension

The Journal of Experimental Medicine(2021)10.1084/jem.20201745

N/A

0DataRank · unranked

41 citations

Jungmin Choi, Joseph Brancale, Michael Leney-Greene, Sinan Sarı, Buket Dalgıç +17 more

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

Science Advances(2021)10.1126/sciadv.abe1386

N/A

0DataRank · unranked

32 citations

Friedhelm Hildebrandt, Thomas Forbes, Verena Klämbt, Ronen Schneider, Konstantin Deutsch +34 more

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

Journal of the American Society of Nephrology(2021)10.1681/asn.2020040490

N/A

0DataRank · unranked

28 citations

Slim Mzoughi, Ronen Schneider, Susanne J. Kühl, Denny Schanze, Verena Klämbt +38 more

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

N/A

0DataRank · unranked

27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

Journal of Medical Genetics(2021)10.1136/jmedgenet-2020-107459

N/A

0DataRank · unranked

10 citations

Maud Wurmser, Simon J. McGowan, Rodrigo Atique, Débora Romeo Bertola, Michael L. Cunningham +11 more

Human immunodeficiency reveals GIMAP5 as lymphocyte-specific regulator of senescence

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.02.22.432146

N/A

0DataRank · unranked

6 citations

Michael Leney-Greene, Matthew Lynberg, Xijin Xu, Lixin Zheng, Yu Zhang +19 more

Quantifying concordant genetic effects of de novo mutations on multiple disorders

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.06.13.448234

N/A

0DataRank · unranked

1 citations

Lin Hou, Yu Shi, Sheng Chih Jin, Xue Zeng, Boyang Li +5 more

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Science(2022)10.1126/science.abo3627

N/A

0DataRank · unranked

168 citations

Jérémie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi +95 more

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

Human Genetics(2022)10.1007/s00439-022-02477-2

N/A

0DataRank · unranked

19 citations

Emre Kiziltug, Sheng Chih Jin, Carol Nelson‐Williams, Erin Loring, August Allocco +17 more

Mutation spectrum of congenital heart disease in a consanguineous Turkish population

Molecular Genetics & Genomic Medicine(2022)10.1002/mgg3.1944

N/A

0DataRank · unranked

13 citations

Hande Kaymakçalan, Sheng Chih Jin, Nicholas S. Diab, İbrahim Cansaran Tanıdır, Ali Seyfi Yalım Yalçın +7 more

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia

Journal of Lipid Research(2022)10.1016/j.jlr.2022.100209

N/A

0DataRank · unranked

8 citations

K. Wong, Youbin Liu, Michal Levy‐Sakin, Wei‐Chien Hung, Mo Li +17 more

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Journal of the American Society of Nephrology(2022)10.1681/asn.2022010050

N/A

0DataRank · unranked

8 citations

Friedhelm Hildebrandt, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth +28 more

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62644

N/A

0DataRank · unranked

7 citations

Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu, Camille Nicolas‐Frank, Kirollos Yousef +23 more

Quantifying concordant genetic effects of de novo mutations on multiple disorders

eLife(2022)10.7554/elife.75551

N/A

0DataRank · unranked

5 citations

Lin Hou, Yu Shi, Sheng Chih Jin, Xue Zeng, Boyang Li +5 more

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

Cells(2022)10.3390/cells11193090

N/A

0DataRank · unranked

4 citations

Leon Tejwani, Uzma Abdullah, Sadia Saeed, Shagufta Shafique, Mazhar Badshah +7 more

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

medRxiv(2022)10.1101/2022.10.22.22281221

N/A

0DataRank · unranked

10 citations

Estelle Talouarn, Astrid Marchal, Jérémy Manry, Yoann Seeleuthner, Yu Zhang +95 more

Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

medRxiv(2022)10.1101/2022.12.23.22283854

N/A

0DataRank · unranked

5 citations

Yilan Wang, Yasmine Chahine, E. Zeynep Erson‐Omay, Stephanie M. Robert, Emre Kiziltug +36 more

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

Nature Medicine(2023)10.1038/s41591-023-02238-2

N/A

0DataRank · unranked

20 citations

Garrett Allington, Stephen McGee, Kedous Y. Mekbib, Vladimir G. Gainullin, Andrew T. Timberlake +31 more

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

Nature Communications(2023)10.1038/s41467-023-43062-z

N/A

0DataRank · unranked

27 citations

Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau +61 more

Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

Proceedings of the National Academy of Sciences(2023)10.1073/pnas.2214997120

N/A

0DataRank · unranked

20 citations

Tanyeri Barak, Leon D. Kaulen, Octavian Henegariu, Sheng Chih Jin, Stephanie Marie Aguilera +25 more

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

Brain(2023)10.1093/brain/awad405

N/A

0DataRank · unranked

18 citations

Garrett Allington, Stephen Viviano, Stephen McGee, Emre Kiziltug, Shaojie Ma +25 more

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

Journal of the American Society of Nephrology(2023)10.1681/asn.0000000000000132

N/A

0DataRank · unranked

15 citations

Tze Yin Lim, Juntao Ke, Gina Jin, Miguel Verbitsky, Monica Bodria +77 more

LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility

eLife(2023)10.7554/elife.90095

N/A

0DataRank · unranked

9 citations

Pengxin Chai, Shoaib Nawaz, Jungmin Choi, Francesc López‐Giráldez, Shabir Hussain +7 more

LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility

eLife(2023)10.7554/elife.90095.3

N/A

0DataRank · unranked

8 citations

Pengxin Chai, Shoaib Nawaz, Jungmin Choi, Francesc López‐Giráldez, Shabir Hussain +7 more

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.18.532837

N/A

0DataRank · unranked

3 citations

Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau +58 more

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

medRxiv(2023)10.1101/2023.03.19.23287455

N/A

0DataRank · unranked

1 citations

Stephen Viviano, Garrett Allington, Stephen McGee, Emre Kiziltug, Kedous Y. Mekbib +24 more

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

Brain(2024)10.1093/brain/awae175

N/A

0DataRank · unranked

21 citations

Bettina Jux, Shujuan Zhao, Kedous Y. Mekbib, Evan Dennis, Weilai Dong +25 more

GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

Nature Immunology(2024)10.1038/s41590-023-01691-y

N/A

0DataRank · unranked

13 citations

Michael Leney-Greene, Matthew Lynberg, Justin Q. Gabrielski, Xijin Xu, Benjamin Schwarz +69 more

De novo variants disrupt an LDB1 -regulated transcriptional network in congenital ventriculomegaly

Brain(2024)10.1093/brain/awae395

N/A

0DataRank · unranked

5 citations

Neel H. Mehta, Evan Dennis, Kedous Y. Mekbib, Benjamin C. Reeves, Emre Kiziltug +15 more

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

Genes & Diseases(2024)10.1016/j.gendis.2024.101280

N/A

0DataRank · unranked

3 citations

Shirlee Shril, Friedhelm Hildebrandt, Konstantin Deutsch, Kirollos Yousef, Camille Nicolas Frank +38 more

AXIN1 mutations in nonsyndromic craniosynostosis

Journal of Neurosurgery Pediatrics(2024)10.3171/2024.5.peds24115

N/A

0DataRank · unranked

1 citations

Kshipra Hemal, Jonas A. Gustafson, Le Hao, Irene Valenzuela, Anne Slavotinek +5 more

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

iScience(2020)10.1016/j.isci.2020.101552

N/A

0DataRank · unranked

47 citations

Sheng Chih Jin, August Allocco, Xue Zeng, Amar H. Sheth, Shreyas Panchagnula +44 more

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Kidney International Reports(2020)10.1016/j.ekir.2020.10.040

N/A

0DataRank · unranked

11 citations

Ronen Schneider, Peter F. M. van der Ven, Marvin Aßent, Keerthika Lohanadan, Verena Klämbt +24 more

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.008

N/A

0DataRank · unranked

34 citations

Konstantin Deutsch, Gregory J. Hoeprich, Jonathan Marquez, Tobias Hermle, Daniela A. Braun +28 more

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

JACC Basic to Translational Science(2020)10.1016/j.jacbts.2020.01.012

N/A

0DataRank · unranked

28 citations

Andrew D. Rouillard, Nicolas Fernandez, Zichen Wang, Alexander Lachmann, Sunita S. Shankaran +21 more

Richard P. Lifton

Indexed papers

Top data-sharing exemplar

Papers