Deborah A. Nickerson

Biochemistry, Genetics and Molecular Biology

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 1%percentile

38.3Author DataRank

Indexed papers

10in 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 10 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.

A global reference for human genetic variation

Nature(2015)10.1038/nature15393

Top 1%

10.6DataRank

Top 1%20166 citations

Gonçalo R. Abecasis, Richard M. Durbin, Panagiotis Deloukas, Aravinda Chakravarti, Peter Donnelly +516 more

Papers

Driven by 101 papers — median percentile 72. Top paper: “Targeted capture and massively parallel sequencing of 12 human exomes”.

Targeted capture and massively parallel sequencing of 12 human exomes

Nature(2009)10.1038/nature08250

N/A

22.2DataRank · unranked

2036 citations

Emily H. Turner, Peggy D. Robertson, Steven D. Flygare, Abigail W. Bigham, Choli Lee +8 more

Mining SNPs From EST Databases

Genome Research(1999)10.1101/gr.9.2.167

N/A

18.5DataRank · unranked

330 citations

Trey E. Ideker, Mark G. Pohl, Scott L. Taylor, Miriam A. Donaldson, Deborah A. Nickerson +2 more

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans

Nature Genetics(2003)10.1038/ng1128

N/A

17.3DataRank · unranked

317 citations

Michael A. Eberle, Mark J. Rieder, Joshua D. Smith, Leonid Kruglyak, Deborah A. Nickerson +1 more

Definition and Clinical Importance of Haplotypes

Annual Review of Medicine(2005)10.1146/annurev.med.56.082103.104540

N/A

14.4DataRank · unranked

343 citations

Deborah A. Nickerson, Dana C. Crawford

A global reference for human genetic variation

Nature(2015)10.1038/nature15393

Top 1%

10.6DataRank

Top 1%20166 citations

Gonçalo R. Abecasis, Richard M. Durbin, Panagiotis Deloukas, Aravinda Chakravarti, Peter Donnelly +516 more

A map of human genome variation from population-scale sequencing

Nature(2010)10.1038/nature09534

Top 2%

9.1DataRank

Top 2%8109 citations

Min Hu, Yuan Chen, Matthew N. Bainbridge, Richard M. Durbin, Si Quang Le +319 more

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

Nature Communications(2014)10.1038/ncomms4934

Top 2%

8.3DataRank

Top 2%460 citations

Jonathan Marchini, Peter Donnelly, Gerton Lunter, Jonathan L. Marchini, Simon Myers +364 more

A Draft Sequence for the Genome of the Domesticated Silkworm ( Bombyx mori )

Science(2004)10.1126/science.1102210

Top 2%

8.0DataRank

Top 2%1187 citations

Qingyou Xia, Zeyang Zhou, Cheng Lu, Daojun Cheng, Fangyin Dai +94 more

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

Nature Genetics(2022)10.1038/s41588-021-00997-7

N/A

7.2DataRank · unranked

363 citations

Deepti Jain, Zhili Zheng, TOPMed Anthropometry Working Group, Stella Aslibekyan, Diane M. Becker +95 more

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Nature Communications(2018)10.1038/s41467-018-04668-w

N/A

3.7DataRank · unranked

109 citations

Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan M. Bloom, Timothy Poterba +442 more

De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

Proceedings of the National Academy of Sciences(2020)10.1073/pnas.1902766117

N/A

3.0DataRank · unranked

112 citations

Douglas P. Loesch, James A. Perry, Nancy L. Heard‐Costa, Daniel Taliun, Brian E. Cade +93 more

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

Nature Communications(2022)10.1038/s41467-022-33510-7

N/A

1.6DataRank · unranked

75 citations

Xihao Li, Zilin Li, Akhil Pampana, David Zhang, Joseph Park +95 more

Enterotypes of the human gut microbiome

Nature(2011)10.1038/nature09944

N/A

1.3DataRank · unranked

7570 citations

Manimozhiyan Arumugam, Jeroen Raes, Eric Pelletier, Denis Le Paslier, Takuji Yamada +45 more

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Nature Communications(2021)10.1038/s41467-021-22339-1

N/A

1.1DataRank · unranked

51 citations

Akhil Pampana, Sarah E. Graham, Sanni Ruotsalainen, James A. Perry, Paul S. de Vries +95 more

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Science(2012)10.1126/science.1215040

N/A

1.1DataRank · unranked

1321 citations

Suganthi Balasubramanian, Michael G. FitzGerald, Ni Huang, James Morris, Fred R. Hirsch +54 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

Targeted long-read sequencing identifies missing disease-causing variation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.006

N/A

0.825DataRank · unranked

243 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +45 more

Evidence for Limited Early Spread of COVID-19 Within the United States, January–February 2020

MMWR Morbidity and Mortality Weekly Report(2020)10.15585/mmwr.mm6922e1

N/A

0.787DataRank · unranked

189 citations

Michelle A. Jorden, Sarah L. Rudman, Elsa Villarino, Stacey Hoferka, Megan T. Patel +32 more

Structural variation across 138,134 samples in the TOPMed consortium

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.25.525428

Top 27%

0.737DataRank

Top 27%18 citations

Adam C. English, Ginger Metcalf, Jianzhi Yang, Mark J. P. Chaisson, Nathan Pankratz +82 more

Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative

Human Molecular Genetics(2021)10.1093/hmg/ddab252

Top 28%

0.724DataRank

Top 28%20 citations

Yao Hu, Quan Sun, Deepti Jain, Jai Broome, Ming‐Huei Chen +62 more

Functional divergence of the two Elongator subcomplexes during neurodevelopment

EMBO Molecular Medicine(2022)10.15252/emmm.202115608

N/A

0.688DataRank · unranked

20 citations

Marija Kojic, Megan R Stegeman, Tülay Öncü Öner, Anna Kościelniak, Alun Jones +24 more

Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.05.014

N/A

0.663DataRank · unranked

82 citations

Shaila Musharoff, Jeffrey P. Spence, Harold Pimentel, Catherine Tcheandjieu, Hakhamanesh Mostafavi +19 more

Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

Human Molecular Genetics(2013)10.1093/hmg/ddt588

N/A

0.650DataRank · unranked

75 citations

A. D. Johnson, B. M. Snively, Jarmo Virtamo, P. L. Auer, Jonas B. Nielsen +34 more

Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.09.034454

N/A

0.637DataRank · unranked

69 citations

Peter DeFord, Nathan D. Jackson, Michael T. Montgomery, Jamie L. Everman, Cydney Rios +22 more

Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas

Cell Genomics(2024)10.1016/j.xgen.2024.100692

Top 31%

0.635DataRank

Top 31%30 citations

Douglas P. Loesch, Bing Guo, Roland Laboulaye, Diego Véliz-Otani, Jennifer N. French +70 more

Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology

Nature Communications(2022)10.1038/s41467-022-28973-7

N/A

0.609DataRank · unranked

57 citations

Jamie L. Everman, Nathan D. Jackson, Benjamin Saef, Cydney Rios, Camille M. Moore +20 more

CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis

Journal of Molecular Diagnostics(2022)10.1016/j.jmoldx.2021.12.011

N/A

0.581DataRank · unranked

47 citations

Erin C. Boone, Steven E. Scherer, Seung‐been Lee, Ibrahim Numanagić, S. Cenk Şahinalp +13 more

Germline SAMD9L truncation variants trigger global translational repression

The Journal of Experimental Medicine(2021)10.1084/jem.20201195

N/A

0.564DataRank · unranked

42 citations

Frank Soveg, Laura S. Finn, Lomon So, Jacquelyn A. Gorman, Aaron B.I. Rosen +11 more

SwabExpress: An End-to-End Protocol for Extraction-Free COVID-19 Testing

Clinical Chemistry(2021)10.1093/clinchem/hvab132

N/A

0.529DataRank · unranked

33 citations

Sarah Heidl, Brian Pfau, Beth Martin, Peter D. Han, Weizhi Zhong +37 more

The functional impact of rare variation across the regulatory cascade

Cell Genomics(2023)10.1016/j.xgen.2023.100401

N/A

0.526DataRank · unranked

15 citations

Nicole M. Ferraro, Benjamin J. Strober, François Aguet, Silva Kasela, Marios Arvanitis +33 more

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

EMBO Molecular Medicine(2020)10.15252/emmm.201911739

N/A

0.505DataRank · unranked

28 citations

Sara P. Abraham, Alexandru Niţă, Eva Hrubá, Marcela Buchtová, S. Paige Taylor +19 more

Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium

EBioMedicine(2021)10.1016/j.ebiom.2020.103157

N/A

0.505DataRank · unranked

28 citations

Kelsey Grinde, Jennifer A. Brody, Charles E. Breeze, Laura M. Raffield, Josyf C. Mychaleckyj +68 more

Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.007

N/A

0.494DataRank · unranked

26 citations

Caitlin McHugh, Linda M. Polfus, Laura M. Raffield, Meher Preethi Boorgula, Thomas W. Blackwell +88 more

Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.007

N/A

0.489DataRank · unranked

25 citations

Dandi Qiao, Wonji Kim, Matthew Moll, Pallavi Balte, Leslie A. Lange +46 more

Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify MYRIP, TRAPPC11, and SLC27A6 of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population

Frontiers in Genetics(2021)10.3389/fgene.2021.588452

N/A

0.484DataRank · unranked

9 citations

Praful Aggarwal, Steven A. Claas, Lisa de las Fuentes, Anh N., C. Charles Gu +13 more

Remote Household Observation for Noninfluenza Respiratory Viral Illness

Clinical Infectious Diseases(2020)10.1093/cid/ciaa1719

N/A

0.477DataRank · unranked

23 citations

Jessica Heimonen, Jessica O’Hanlon, Ashley E. Kim, Naomi Wilcox, Denise J. McCulloch +16 more

8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer

Nature Communications(2020)10.1038/s41467-020-15122-1

N/A

0.457DataRank · unranked

20 citations

Joan P. Breyer, W. Dale Plummer, Sam S. Chang, Michael S. Cookson, Joseph A. Smith +6 more

Characterization of CYP3A pharmacogenetic variation in American Indian and Alaska Native communities, targetingCYP3A4*1Gallele function

Clinical and Translational Science(2021)10.1111/cts.12970

N/A

0.425DataRank · unranked

16 citations

Rachel Dalton, Kasse Skagen, Konner Jackson, Katrina G. Claw, Scarlett E. Hopkins +11 more

Structural variation across 138,134 samples in the TOPMed consortium

Research Square(2023)10.21203/rs.3.rs-2515453/v1

N/A

0.345DataRank · unranked

9 citations

Adam C. English, Ginger Metcalf, Jianzhi Yang, Mark J. P. Chaisson, Nathan Pankratz +82 more

Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program

medRxiv(2021)10.1101/2021.12.16.21267871

N/A

0.292DataRank · unranked

6 citations

Adrienne M. Stilp, Shuquan Rao, Bjarni V. Halldórsson, Doruk Beyter, Jia Wen +54 more

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.11.463514

N/A

0.277DataRank · unranked

3 citations

Xihao Li, Zilin Li, Akhil Pampana, David Y Zhang, Joseph Park +80 more

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Nature Communications(2020)10.1038/s41467-020-15236-6

Top 57%

0.275DataRank

Top 57%2 citations

Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan M. Bloom, Timothy Poterba +442 more

Exome sequencing identifies variants in infants with sacral agenesis

Birth Defects Research(2022)10.1002/bdr2.1987

N/A

0.241DataRank · unranked

4 citations

Marcia L. Feldkamp, Nathan Pankratz, John Lane, Denise M. Kay, Kristin M. Conway +21 more

Remote surveillance and detection of SARS-CoV-2 transmission among household members in King County, Washington

BMC Infectious Diseases(2024)10.1186/s12879-024-09160-z

N/A

0.104DataRank · unranked

1 citations

Amanda M. Casto, Jessica Heimonen, Jessica O’Hanlon, Eric J. Chow, Constance Ogokeh +41 more

Evidence for involvement of GNB1L in autism

UNC Libraries(2020)10.17615/xax8-6a47

N/A

0DataRank · unranked

0 citations

Ellen M. Wijsman, Ming T. Tsuang, Mark Matsushita, Youngmee Sul, Annette Estes +14 more

Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

UNC Libraries(2020)10.17615/d4h2-zc14

N/A

0DataRank · unranked

0 citations

Benjamin T Levinson, Emily H. Turner, Michael R. Knowles, Amjad Horani, Thomas W. Ferkol +14 more

Imputation of coding variants in African Americans: better performance using data from the exome sequencing project

UNC Libraries(2020)10.17615/8p33-rs54

N/A

0DataRank · unranked

0 citations

Alex P. Reiner, Lisa Warsinger Martin, Loı̈c Le Marchand, Steven Buyske, Gonçalo R. Abecasis +30 more

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.03.365395

N/A

0DataRank · unranked

10 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +32 more

Viral genomes reveal patterns of the SARS-CoV-2 outbreak in Washington State

Science Translational Medicine(2021)10.1126/scitranslmed.abf0202

N/A

0DataRank · unranked

80 citations

Cassia Wagner, Chris Frazar, Pavitra Roychoudhury, Jover Lee, Louise H. Moncla +38 more

Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia

Nature Communications(2021)10.1038/s41467-021-22470-z

N/A

0DataRank · unranked

72 citations

Yichi Zhang, Chenling Xiong, Jingjing Zhao, Ilias Georgakopoulos-Soares, Lauren Kane +9 more

Cryptic transmission of SARS-CoV-2 in Washington State

medRxiv(2020)10.1101/2020.04.02.20051417

N/A

0DataRank · unranked

86 citations

Alexander L. Greninger, Pavitra Roychoudhury, Lea M. Starita, Michael Famulare, Meei‐Li Huang +52 more

Effect of Sickle Cell Trait and APOL1 Genotype on the Association of Soluble uPAR with Kidney Function Measures in Black Americans

Clinical Journal of the American Society of Nephrology(2020)10.2215/cjn.12100720

N/A

0DataRank · unranked

5 citations

Laura M. Raffield, Nora Franceschini, Paul L. Auer, Ethan M. Lange, Deborah A. Nickerson +4 more

Multi-omic studies on missense PLG variants in families with otitis media

Scientific Reports(2020)10.1038/s41598-020-70498-w

N/A

0DataRank · unranked

8 citations

Lena Hafrén, Christina L. Elling, Erin E. Baschal, Ani Manichaikul, Harold S. Pine +30 more

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.014

N/A

0DataRank · unranked

34 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12290

N/A

0DataRank · unranked

38 citations

Erik A. Eklund, Sergey A. Shiryaev, Yin Yao Dong, Mary‐Alice Abbott, Carla Asteggiano +48 more

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.013

N/A

0DataRank · unranked

22 citations

Paulina Sosicka, François Fenaille, Annie Harroche, Sandrine Vuillaumier‐Barrot, Mindy Porterfield +27 more

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12367

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Earnest James Paul Daniel, Jennifer Friedman, Enikö K. Pivnick, Amal Alhashem +15 more

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62194

N/A

0DataRank · unranked

12 citations

Nisha Patel, John M. Graham, Michael J. Bamshad, Deborah A. Nickerson, Janson J. White +10 more

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12249

N/A

0DataRank · unranked

9 citations

Bobby G. Ng, Shino Shimada, Lynne A. Wolfe, David R. Adams, Undiagnosed Diseases Network +6 more

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

European Journal of Human Genetics(2021)10.1038/s41431-021-00913-x

N/A

0DataRank · unranked

15 citations

Isabelle Schrauwen, Sakina Rehman, Khurram Liaqat, Anushree Acharya, Arnaud P. J. Giese +19 more

Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults

Circulation Genomic and Precision Medicine(2021)10.1161/circgen.121.003421

N/A

0DataRank · unranked

15 citations

Laura M. Raffield, Anne H. Moxley, Tyne W. Miller‐Fleming, Paul L. Auer, Franceschini, Nora +12 more

Exome-wide rare variant analysis in familial essential tremor

Parkinsonism & Related Disorders(2020)10.1016/j.parkreldis.2020.11.021

N/A

0DataRank · unranked

15 citations

Gabrielle Houle, Sara Ortega‐Cubero, Sara Bandrés‐Ciga, Ignacio Álvarez, María Cárcel +28 more

Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62439

N/A

0DataRank · unranked

8 citations

Marcia L. Feldkamp, Nathan Pankratz, John Lane, Denise M. Kay, Kristin M. Conway +17 more

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100051

N/A

0DataRank · unranked

8 citations

Rachel B. Keller, Brecht Guillemyn, Melanie Pepin, Jane E. Corteville, Samir Khatib +13 more

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13

Journal of Human Genetics(2021)10.1038/s10038-021-00922-0

N/A

0DataRank · unranked

7 citations

Syed Irfan Raza, Muhammad Zeeshan Anwar, Thashi Bharadwaj, Khurram Liaqat, Muhammad Akram Shahzad Khokhar +9 more

The Seattle Flu Study: when regulations hinder pandemic surveillance

Nature Medicine(2021)10.1038/s41591-021-01587-0

N/A

0DataRank · unranked

7 citations

Helen Y. Chu, Janet A. Englund, Christina M. Lockwood, Deborah A. Nickerson, Jay Shendure +2 more

Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease

Cardiogenetics(2021)10.3390/cardiogenetics11030015

N/A

0DataRank · unranked

2 citations

Dongchuan Guo, Stoyan N. Angelov, Michael J. Bamshad, Deborah A. Nickerson, Dianna M. Milewicz +2 more

SARS-CoV-2 Epidemiology on a Public University Campus in Washington State

medRxiv(2021)10.1101/2021.03.15.21253227

N/A

0DataRank · unranked

6 citations

Sarah L Sohlberg, Jessica O’Hanlon, Amanda M. Casto, Anne Emanuels, Natalie Lo +31 more

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

UNC Libraries(2021)10.17615/c3t0-gh30

N/A

0DataRank · unranked

0 citations

Maimoona A. Zariwala, Johnny L. Carson, Margaret Rosenfeld, Stephanie D. Davis, Margaret W. Leigh +16 more

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

EBioMedicine(2020)10.1016/j.ebiom.2020.103075

N/A

0DataRank · unranked

18 citations

Fabiana Csukasi, Michaela Kunova Bosakova, Jorge Martı́n, Wenjuan Zhang, S. Paige Taylor +10 more

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

Human Genetics and Genomics Advances(2020)10.1016/j.xhgg.2020.100016

N/A

0DataRank · unranked

14 citations

Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller +15 more

Associations Between Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Variants and Risk of Coronavirus Disease 2019 (COVID-19) Hospitalization Among Confirmed Cases in Washington State: A Retrospective Cohort Study

Clinical Infectious Diseases(2022)10.1093/cid/ciac279

N/A

0DataRank · unranked

80 citations

Stephanie M. Lunn, Michael Famulare, Lauren Frisbie, Ian Painter, Roy Burstein +40 more

Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

Genome Medicine(2022)10.1186/s13073-022-01031-z

N/A

0DataRank · unranked

63 citations

Donna M. Muzny, Joshua D. Smith, Kimberly Walker, Cynthia L. Neben, Christina M. Lockwood +16 more

Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects

Gastroenterology(2020)10.1053/j.gastro.2020.08.062

N/A

0DataRank · unranked

63 citations

Weiqiang Lin, Wanqing Wen, Jeroen R. Huyghe, Stephanie A. Bien, Qiuyin Cai +81 more

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Genetics in Medicine(2022)10.1016/j.gim.2022.02.013

N/A

0DataRank · unranked

36 citations

Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Sadegheh Haghshenas +95 more

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Journal of Clinical Investigation(2020)10.1172/jci131656

N/A

0DataRank · unranked

88 citations

Julie C. Van De Weghe, Tamara D. S. Rusterholz, Stef J.F. Letteboer, Arianna Gómez, Ranad Shaheen +23 more

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108177

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Amy White, Kim K. Nickander, Coleman Turgeon, Kristen Liedtke +31 more

Cryptic transmission of SARS-CoV-2 in Washington state

Science(2020)10.1126/science.abc0523

N/A

0DataRank · unranked

329 citations

Alexander L. Greninger, Pavitra Roychoudhury, Lea M. Starita, Michael Famulare, Meei‐Li Huang +62 more

Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

Nature Communications(2022)10.1038/s41467-022-35354-7

N/A

0DataRank · unranked

18 citations

Adrienne M. Stilp, Shuquan Rao, Bjarni V. Halldórsson, Doruk Beyter, Jia Wen +54 more

Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

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medRxiv(2022)10.1101/2022.08.17.22278768

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Issue Information

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UNC Libraries(2024)10.17615/kd3y-sn92

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Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

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medRxiv(2020)10.1101/2020.02.20.20019588

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Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

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