Michael J. Bamshad

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

9.2Author DataRank

Indexed papers

3in 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 3 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.

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Nature(2016)10.1038/nature18964

Top 2%

8.6DataRank

Top 2%1785 citations

Alexandra P. Lewis, Mark Lipson, Iain Mathieson, Madhusudan Gujral, Fernando Racimo +86 more

Papers

Driven by 94 papers — median percentile 66. Top paper: “The Simons Genome Diversity Project: 300 genomes from 142 diverse populations”.

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Nature(2016)10.1038/nature18964

Top 2%

8.6DataRank

Top 2%1785 citations

Alexandra P. Lewis, Mark Lipson, Iain Mathieson, Madhusudan Gujral, Fernando Racimo +86 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

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

Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients

American Journal of Respiratory and Critical Care Medicine(2023)10.1164/rccm.202209-1653oc

N/A

0.930DataRank · unranked

38 citations

Paul J. Gallins, Rhonda G. Pace, Hong Dang, Melis A. Aksit, Elizabeth Blue +25 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

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

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

npj Genomic Medicine(2023)10.1038/s41525-022-00343-8

N/A

0.605DataRank · unranked

18 citations

Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara +95 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z

Top 34%

0.572DataRank

Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 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

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

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

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0.416DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x

N/A

0.292DataRank · unranked

6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 more

Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63185

N/A

0.292DataRank · unranked

6 citations

Aniko Sabo, Lynn M. Almli, Mary M. Jenkins, Wendy N. Nembhard, A. J. Agopian +28 more

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

arXiv (Cornell University)(2023)10.48550/arxiv.2301.07363

N/A

0.269DataRank · unranked

5 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +19 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0.269DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100282

N/A

0.261DataRank · unranked

4 citations

Robert D. Steiner, Anne Slavotinek, Tiago Faial, Michael J. Bamshad, Jehannine Austin +4 more

MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.04.001

N/A

0.241DataRank · unranked

4 citations

Yingxi Yang, Jonathan D. Rosen, Jiawen Chen, Xihao Li, Wyliena Guan +22 more

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51786

N/A

0.241DataRank · unranked

4 citations

Ghayda Mirzaa, Elizabeth Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth +28 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

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0.170DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split‐Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study

Birth Defects Research(2025)10.1002/bdr2.2472

N/A

0.104DataRank · unranked

1 citations

Denise M. Kay, Faith Pangilinan, Lynn M. Almli, Mary M. Jenkins, Elizabeth Blue +24 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

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

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

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

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

medRxiv(2021)10.1101/2021.09.06.21262776

N/A

0DataRank · unranked

8 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +64 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

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

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100102

N/A

0DataRank · unranked

26 citations

Laura Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stéphanie Moortgat +34 more

Club cell secretory protein and lung function in children with cystic fibrosis

Journal of Cystic Fibrosis(2022)10.1016/j.jcf.2022.03.007

N/A

0DataRank · unranked

21 citations

Mary J. Emond, Amber Spangenberg, Debra A. Stern, Monica M. Vasquez, Elizabeth Blue +10 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

MagicalRsq: Machine-learning-based genotype imputation quality calibration

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.09.009

N/A

0DataRank · unranked

19 citations

Yingxi Yang, Jonathan D. Rosen, Min-Zhi Jiang, Jiawen Chen, Weifang Liu +14 more

The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder

Human Molecular Genetics(2022)10.1093/hmg/ddac085

N/A

0DataRank · unranked

17 citations

Mümine Şentürk, Kelly Schoch, Amanda L. Minogue, Diego Lopergolo, Chiara Fallerini +95 more

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62775

N/A

0DataRank · unranked

17 citations

Kaveeta Kaw, Ellen M. Hostetler, Ana Beleza‐Meireles, Adam Smith‐Collins, Catherine Armstrong +11 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 more

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

Genetics in Medicine(2022)10.1016/j.gim.2022.11.002

N/A

0DataRank · unranked

12 citations

Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J. Burman, Miriam C. Aziz +49 more

Accounting for population structure in genetic studies of cystic fibrosis

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100117

N/A

0DataRank · unranked

6 citations

Adrienne M. Stilp, William W. Gordon, Jai Broome, Stephanie M. Gogarten, Hua Ling +20 more

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

medRxiv(2022)10.1101/2022.08.17.22278768

N/A

0DataRank · unranked

3 citations

Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J. Burman, Miriam C. Aziz +11 more

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

Rare variants in ANO1 , encoding a calcium-activated chloride channel, predispose to moyamoya disease

Brain(2023)10.1093/brain/awad172

N/A

0DataRank · unranked

26 citations

Wenlei Ye, Stuart Fraser, Jill A. Rosenfeld, Pavel N. Pichurin, Scott E. Hickey +19 more

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100213

N/A

0DataRank · unranked

18 citations

Matthew C. Childers, Colby T. Marvin, Anthony J. Marcello, Hernán Gonorazky, Lili‐Naz Hazrati +13 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

N/A

0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 more

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi–Goutières syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63486

N/A

0DataRank · unranked

8 citations

Amélie Pinard, Maura L. Boerio, Dimitri Hemelsoet, Simon J. Tavernier, Michel De Pauw +7 more

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1

American Journal of Ophthalmology(2023)10.1016/j.ajo.2023.10.011

N/A

0DataRank · unranked

8 citations

Jessica X. Chong, Doug D. Chung, Walter Lisch, Carol L. Karp, Erling Dreisler +16 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537

N/A

0DataRank · unranked

7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

Guidelines for genetic ancestry inference created through roundtable discussions

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100178

N/A

0DataRank · unranked

7 citations

Joon‐Ho Yu, Duana Fullwiley, CeCe Moore, James F. Wilson, Michael J. Bamshad +2 more

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100232

N/A

0DataRank · unranked

2 citations

Janson J. White, Michael Dush, William W. Gordon, Brent Wyatt, Peter White +22 more

Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.09.26.559521

N/A

0DataRank · unranked

7 citations

Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Yong-Han Hank Cheng +31 more

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

medRxiv(2023)10.1101/2023.03.07.23286862

N/A

0DataRank · unranked

0 citations

Matthew C. Childers, Colby T. Marvin, Anthony J. Marcello, Hernán Gonorazky, Lili‐Naz Hazrati +13 more

ERBB2 R599C variant is associated with left ventricular outflow tract obstruction defects in human

medRxiv(2023)10.1101/2023.11.17.23297969

N/A

0DataRank · unranked

0 citations

Sabina Selenius, Ilkka Paatero, Iftekhar Chowdhury, Jenna Villman, Martin Broberg +9 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

N/A

0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

Nature Genetics(2024)10.1038/s41588-024-01717-7

N/A

0DataRank · unranked

24 citations

Alexandra M. Dumitrescu, Xiao-Hui Liao, Elliott Swanson, Roy E. Weiss, Panudda Srichomkwun +17 more

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101833

N/A

0DataRank · unranked

13 citations

Jonas A. Gustafson, Stephanie C. Bohaczuk, Benjamin J. Mallory, Paxton Reed, Tara Wenger +14 more

Genetic modifiers of body mass index in individuals with cystic fibrosis

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.08.004

N/A

0DataRank · unranked

4 citations

Karen S. Raraigh, Elizabeth Pugh, Melis A. Aksit, Peng Zhang, Rhonda G. Pace +39 more

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study

Birth Defects Research(2024)10.1002/bdr2.2384

N/A

0DataRank · unranked

2 citations

Kristin J. Moore, K.E. North, Tania A. Desrosiers, Suzan L. Carmichael, Janson J. White +19 more

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.008

N/A

0DataRank · unranked

3 citations

Eunjin Ryu, Benjamin Steger, Abhijit Dixit, Yoshihiko Saito, Juyeong Yoo +36 more

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.05.579012

N/A

0DataRank · unranked

3 citations

Seth Berger, Samantha Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame +6 more

Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications

medRxiv(2024)10.1101/2024.02.07.24302406

N/A

0DataRank · unranked

2 citations

Anji T. Yetman, Malenka M. Bissell, Yuli Y. Kim, Héctor I. Michelena, Dawn S. Hui +16 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

N/A

0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease

medRxiv(2024)10.1101/2024.04.05.24304760

N/A

0DataRank · unranked

0 citations

Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Takefumi Suzuki +18 more

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

UNC Libraries(2024)10.17615/94re-8d47

N/A

0DataRank · unranked

0 citations

Wendy N. Nembhard, Paul A. Romitti, Marcia L. Feldkamp, Y.J. Wang, Andrew F. Olshan +22 more

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

UNC Libraries(2024)10.17615/j34v-vj41

Top 100%

0DataRank

Top 100%0 citations

Wendy N. Nembhard, Shiran Shapira, Andrew F. Olshan, Elizabeth Blue, Nanette M. Nascone‐Yoder +27 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

UNC Libraries(2024)10.17615/2254-fj45

N/A

0DataRank · unranked

0 citations

Rolph Pfundt, Birgit Elisabeth Kristiansen, Mary J. Green, Sally Ann Lynch, Amanda Openshaw +67 more

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

Nature Genetics(2025)10.1038/s41588-024-02067-0

N/A

0DataRank · unranked

34 citations

Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Stephanie C. Bohaczuk +33 more

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.003

N/A

0DataRank · unranked

16 citations

Abbey Scott, Lukas Kruidenier, Megan Sikes, Alexandra Keefe, Kati J. Buckingham +28 more

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions

medRxiv(2025)10.1101/2025.11.07.25339764

N/A

0DataRank · unranked

3 citations

Adriana E. Sedeño-Cortés, Jane Ranchalis, Katherine M. Munson, Mitchell R. Vollger, Elsa Balton +15 more

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.05.14.654043

N/A

0DataRank · unranked

0 citations

Xue Zou, Jian Dai, R. A. Francis, Alexias Safi, Karynne Patterson +13 more

MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric

UNC Libraries(2025)10.17615/4609-8b83

N/A

0DataRank · unranked

0 citations

Byron C. Jaeger, Michael J. Bamshad, Alex P. Reiner, Yun Li, Jerome I. Rotter +22 more

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103474

N/A

0DataRank · unranked

0 citations

Xue Zou, Jian Dai, R. A. Francis, Alexias Safi, Karynne Patterson +14 more

Issue Information

Human Mutation(2018)10.1002/humu.23568

N/A

0DataRank · unranked

0 citations

R. Donald Harvey, Tracy Dudding‐Byth, Liliana Catherine Patiño, Isabelle Beau, Adrien Morel +135 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

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

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

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

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

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

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UNC Libraries(2020)10.17615/nh7z-zg10

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

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UNC Libraries(2020)10.17615/svad-an83

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