Elizabeth Blue

Also affiliated with University of Washington Medical Center, Brotman Baty Institute

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 2%percentile

3.2Author DataRank

Indexed papers

4in 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 4 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.

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome

Nucleic Acids Research(2022)10.1093/nar/gkac966

Top 8%

2.7DataRank

Top 8%143 citations

Theodore Arapoglou, Xihao Li, Zilin Li, Xiuwen Zheng, Jill E. Moore +20 more

Papers

Driven by 71 papers — median percentile 39. Top paper: “FAVOR: functional annotation of variants online resource and annotator for variation across the human genome”.

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome

Nucleic Acids Research(2022)10.1093/nar/gkac966

Top 8%

2.7DataRank

Top 8%143 citations

Theodore Arapoglou, Xihao Li, Zilin Li, Xiuwen Zheng, Jill E. Moore +20 more

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009

N/A

2.2DataRank · unranked

123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 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

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

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

Key variants via Alzheimer’s Disease Sequencing Project whole genome sequence data

medRxiv(2023)10.1101/2023.08.28.23294631

Top 59%

0.257DataRank

Top 59%4 citations

Chloé Sarnowski, Honghuang Lin, Achilleas Pitsillides, Nancy L. Heard‐Costa, Seung Hoan Choi +14 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

UNC Libraries(2024)10.17615/2btg-0082

Top 62%

0.224DataRank

Top 62%2 citations

Jessica X. Chong, NISC Comparative Sequencing Program University of Washington Center for Mendelian Genomics, Jennifer E. Posey, Cynthia A. Moore, Sanjiv Harpavat +29 more

Genetic Examination of Hematological Parameters in SARS-CoV-2 Infection and COVID-19

medRxiv(2022)10.1101/2022.02.28.22271562

N/A

0.208DataRank · unranked

3 citations

Quan Sun, Wanjiang Wang, Tyne W. Miller‐Fleming, Nancy J. Cox, Misa Graff +9 more

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Annals of the Rheumatic Diseases(2022)10.1136/annrheumdis-2022-222629

N/A

0DataRank · unranked

70 citations

Shilpa Kodati, Laryssa A. Huryn, Hongying Wang, Blake M. Warner, Priyam Jani +95 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

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

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

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014

N/A

0DataRank · unranked

16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 more

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62874

N/A

0DataRank · unranked

8 citations

Wei Yang, Yuejun Wang, Chen Ma, Cynthia J. Curry, Daniel McGoldrick +21 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

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

0DataRank · unranked

1 citations

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

Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100207

N/A

0DataRank · unranked

16 citations

Lisa A. Boyken, Elizabeth Blue, Kelsey Grinde, Rafael A. Nafikov, Harkirat Sohi +13 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 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

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

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

0DataRank · unranked

6 citations

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

0DataRank · unranked

6 citations

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

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 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

0DataRank · unranked

4 citations

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

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 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

Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19

Blood Cells Molecules and Diseases(2023)10.1016/j.bcmd.2023.102782

N/A

0DataRank · unranked

2 citations

Bryce Rowland, Wanjiang Wang, Tyne W. Miller‐Fleming, Nancy J. Cox, Misa Graff +9 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

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

Advancements in APOE and dementia research: Highlights from the 2023 AAIC Advancements: APOE conference

Alzheimer s & Dementia(2024)10.1002/alz.13877

N/A

0DataRank · unranked

33 citations

Michaël E. Belloy, Elizabeth Blue, Gregory R. Bowman, María C. Carrillo, Xiaoying Chen +55 more

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

Genetics in Medicine(2024)10.1016/j.gim.2024.101199

N/A

0DataRank · unranked

14 citations

Seth Berger, Samantha Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame +89 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

The power of representation: Statistical analysis of diversity in US Alzheimer's disease genetics data

Alzheimer s & Dementia Translational Research & Clinical Interventions(2024)10.1002/trc2.12462

N/A

0DataRank · unranked

11 citations

Elizabeth Blue, Matthew P. Conomos, Alison E. Fohner, Diane Xue

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101166

N/A

0DataRank · unranked

11 citations

Nicole Legro, Dustin Baldridge, Jimann Shin, Angela Bowman, Berrak Uğur +89 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

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Genetics in Medicine(2024)10.1016/j.gim.2024.101115

N/A

0DataRank · unranked

6 citations

Lauren C. Briere, Chloe Reuter, Perman Gochyyev, Maria T. Acosta, David R. Adams +94 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

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Rare(2024)10.1016/j.rare.2024.100040

N/A

0DataRank · unranked

3 citations

Samuel J. Huang, Alyna Khan, Katie Golden‐Grant, Brenna Boyd, Elisabeth A. Rosenthal +37 more

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Genetics in Medicine(2024)10.1016/j.gim.2024.101218

N/A

0DataRank · unranked

4 citations

Kristy Jay, Alden Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +95 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

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.07.010

N/A

0DataRank · unranked

2 citations

Heena Patel, Siddharth Srivastava, Lindsay C. Swanson, Boris Keren, Sandra Whalen +95 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

eLife(2024)10.7554/elife.95887

N/A

0DataRank · unranked

2 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

medRxiv(2024)10.1101/2024.01.08.23300523

N/A

0DataRank · unranked

0 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 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

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

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Genetics in Medicine(2024)10.1016/j.gim.2024.101203

N/A

0DataRank · unranked

0 citations

Laura Findley, Weihong Ni, Janet S. Sinsheimer, Francesca Cole, Cecilia Esteves +94 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

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70053

N/A

0DataRank · unranked

5 citations

Stephen Viviano, Fazliny Abd Rahman, Samuel D. Strohbehn, Aimee Allworth, Norma Pérez +9 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506

N/A

0DataRank · unranked

3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Genetics in Medicine(2025)10.1016/j.gim.2025.101369

N/A

0DataRank · unranked

4 citations

Lindsay C. Burrage, Sharayu Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke K. Bergmann +92 more

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more

Multi‐ancestry meta‐analysis identifies genetic modifiers of age‐at‐onset of Alzheimer's disease at known and novel loci

Alzheimer s & Dementia(2025)10.1002/alz.70489

N/A

0DataRank · unranked

1 citations

Jai Broome, Diane Xue, Hanley Kingston, Nicola H. Chapman, Stephanie M. Gogarten +3 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

0DataRank · unranked

1 citations

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

Multiple-testing corrections in case-control studies using identity-by-descent segments

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.07.03.663057

N/A

0DataRank · unranked

0 citations

Nicola H. Chapman, Seung Hoan Choi, Anita L. DeStefano, Timothy A. Thornton, Ellen M. Wijsman +2 more

Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19

UNC Libraries(2025)10.17615/w64f-zc73

N/A

0DataRank · unranked

0 citations

Annika Faucon, Quan Sun, Misa Graff, Paul L. Auer, Nancy J. Cox +9 more

Adjustment for Genotype Imputation Uncertainty Corrects for Inflated Type I Error in Family‐Based Association Testing

Genetic Epidemiology(2025)10.1002/gepi.70021

N/A

0DataRank · unranked

0 citations

Joshua C. Bis, Nicola H. Chapman, Alejandro Q. Nato, Andréa R. V. R. Horimoto, Harkirat Sohi +5 more

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

UNC Libraries(2025)10.17615/f92f-hz53

N/A

0DataRank · unranked

0 citations

Joseph M. Collaco, Kurt N. Hetrick, Elizabeth Blue, Ronald L. Gibson, William W Gordon +25 more

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

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

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

N/A

0DataRank · unranked

20 citations

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

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

Admixture mapping reveals the association between Native American ancestry at 3q13.11 and reduced risk of Alzheimer’s disease in Caribbean Hispanics

Alzheimer s Research & Therapy(2021)10.1186/s13195-021-00866-9

N/A

0DataRank · unranked

29 citations

Diane Xue, Timothy A. Thornton, Elizabeth Blue, Andréa R. V. R. Horimoto

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8

N/A

0DataRank · unranked

26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more

Large‐scale sequencing studies expand the known genetic architecture of Alzheimer's disease

Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring(2021)10.1002/dad2.12255

N/A

0DataRank · unranked

8 citations

William S. Bush, Alan E. Renton, Edoardo A. Marcora, Joshua C. Bis, Brian W. Kunkle +13 more

Elizabeth Blue

Indexed papers

Top data-sharing exemplar

Papers