Michael F. Wangler

Also affiliated with Neurological Research 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

3.7Author 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.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01839-9

Top 9%

2.3DataRank

Top 9%84 citations

Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto, Tim Schedl +7 more

Papers

Driven by 48 papers — median percentile 62. Top paper: “Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision”.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01839-9

Top 9%

2.3DataRank

Top 9%84 citations

Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto, Tim Schedl +7 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

1.3DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Human Molecular Genetics(2020)10.1093/hmg/ddaa081

N/A

1.1DataRank · unranked

41 citations

Lauren C. Briere, Oguz Kanca, Paul C. Marcogliese, Melissa Walker, Frances A. High +13 more

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Neuron(2020)10.1016/j.neuron.2020.02.021

N/A

0.767DataRank · unranked

165 citations

Michael F. Wangler, Paul C. Marcogliese, Ju-Yeon Jo, Thomas A. Ravenscroft, Zhongyuan Zuo +29 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0.587DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

Clinical variants paired with phenotype: A rich resource for brain gene curation

Genetics in Medicine(2023)10.1016/j.gim.2023.101035

Top 35%

0.557DataRank

Top 35%11 citations

Juliann M. Savatt, Taylor I. Bingaman, Molly Good, Alexis Morgan, Caitlin Cooney +37 more

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.09.005

N/A

0.510DataRank · unranked

29 citations

Mengqi Ma, Xiao Mao, Carlos A. Bacino, Joseph Jankovic, V. Reid Sutton +15 more

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.011

N/A

0.500DataRank · unranked

27 citations

Gabrielle Lemire, Lauren C. Briere, Fang Liu, Marja W. Wessels, Xueqi Wang +13 more

A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins

Cell Reports(2023)10.1016/j.celrep.2023.112842

Top 40%

0.475DataRank

Top 40%12 citations

Shenzhao Lu, Oguz Kanca, Daniel Bressan, Yan Huang, Mengqi Ma +22 more

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Human Genetics and Genomics Advances(2020)10.1016/j.xhgg.2020.100014

N/A

0.470DataRank · unranked

22 citations

Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Rossetti +19 more

ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Human Mutation(2022)10.1002/humu.24364

N/A

0.425DataRank · unranked

16 citations

Lucian Li, Sanja Rogić, Guillaume Poirier‐Morency, Seon-Young Kim, Undiagnosed Diseases Network +8 more

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

Genetics(2023)10.1093/genetics/iyad110

N/A

0.396DataRank · unranked

13 citations

Lauren C. Briere, Kristy L. Jay, Jonathan C. Andrews, Melissa Walker, Lance H. Rodan +6 more

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.019

N/A

0.377DataRank · unranked

8 citations

Jonathan C. Andrews, Daniel F. Eberl, Güney Bademci, Nicholas A. Borja, Stephanie Bivona +8 more

The Brain Gene Registry: a data snapshot

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09530-3

Top 48%

0.373DataRank

Top 48%11 citations

Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta +58 more

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.007

N/A

0.373DataRank · unranked

11 citations

Alice M. Tao, Shenzhao Lu, Mengqi Ma, Shabab B. Hannan, Rachel Slaugh +43 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0.292DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma

Genetics in Medicine(2024)10.1016/j.gim.2024.101125

N/A

0.251DataRank · unranked

3 citations

Mythily Ganapathi, Yiming Zheng, Kai-Li Tan, Oguz Kanca, Kevin E. Bove +21 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0.241DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.09.30.462504

N/A

0.208DataRank · unranked

3 citations

Lucian Li, Sanja Rogić, Guillaume Poirier‐Morency, Seon-Young Kim, Undiagnosed Diseases Network +8 more

Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships

medRxiv(2020)10.1101/2020.12.07.20238691

N/A

0.196DataRank · unranked

1 citations

Aarushi Nayak, Nathan D. Bliss, Vanesa Lerma, Ashley W. LeMaire, Vinodh Narayanan +8 more

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

eLife(2024)10.7554/elife.95887

N/A

0.165DataRank · unranked

2 citations

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

Subacute Neuropathy Post‐Liver Transplantation in Zellweger Spectrum Disorder: A Case Report

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63941

N/A

0.104DataRank · unranked

1 citations

Madelyn J. Cohen, Juhee Hong, Daniel G. Calame, Kavitha Marri, Sanjiv Harpavat +3 more

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

medRxiv(2023)10.1101/2023.01.31.23285113

N/A

0DataRank · unranked

0 citations

Lauren C. Briere, Kristy Jay, Jonathan C. Andrews, Melissa Walker, Lance H. Rodan +6 more

AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

NEJM AI(2024)10.1056/aioa2300009

N/A

0DataRank · unranked

45 citations

Chaozhong Liu, Linhua Wang, Rami AI-Ouran, Cole A. Deisseroth, Sasidhar Pasupuleti +18 more

Improving access to exome sequencing in a medically underserved population through the Texome Project

Genetics in Medicine(2024)10.1016/j.gim.2024.101102

N/A

0DataRank · unranked

3 citations

Ryan J. German, Seema R. Lalani, Chaya N. Murali, Carlos A. Bacino, Stephanie Baskin +31 more

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

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.06.578086

N/A

0DataRank · unranked

2 citations

Kristy Jay, Alden Y. Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +23 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

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

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

Brain(2025)10.1093/brain/awaf035

N/A

0DataRank · unranked

9 citations

Sharayu Jangam, Martin MC Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano +24 more

Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders

Disease Models & Mechanisms(2025)10.1242/dmm.052258

N/A

0DataRank · unranked

2 citations

Oguz Kanca, Sharayu Jangam, Saurabh Srivastav, Jonathan C. Andrews, Michael F. Wangler +1 more

Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders

PLoS ONE(2025)10.1371/journal.pone.0324143

N/A

0DataRank · unranked

1 citations

Yu-Hsin Chao, Mary R. Roth, Ruth Welti, James A. McNew, Michael F. Wangler

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata

Biomolecules(2025)10.3390/biom16010006

N/A

0DataRank · unranked

1 citations

Meredith I. Williams, Wedad Fallatah, Laura Mackay, M C Brown, Pranjali Bhagwat +4 more

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101429

N/A

0DataRank · unranked

0 citations

Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gécz, Renée Carroll +34 more

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.019

N/A

0DataRank · unranked

47 citations

Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu‐Lin Charng, Shenzhao Lu +42 more

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features

Human Molecular Genetics(2021)10.1093/hmg/ddab110

N/A

0DataRank · unranked

29 citations

Kelly Schoch, Sharayu Jangam, Venkata Hemanjani Bhavana, Hillary K. Graves, Sujay Kansagra +11 more

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2020.12.30.424813

N/A

0DataRank · unranked

3 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +39 more

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Cell Reports(2022)10.1016/j.celrep.2022.110517

N/A

0DataRank · unranked

52 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +56 more

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

Scientific Reports(2022)10.1038/s41598-022-10415-5

N/A

0DataRank · unranked

42 citations

Xiqi Li, Lindsay C. Burrage, Kevin Riehle, Joseph G. Hacia, Nancy Braverman +5 more

Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1130

N/A

0DataRank · unranked

5 citations

Guolian Ding, Kexin Zou, Zi-Ru Jiang, Junyu Zhang, Yun-hua Lu +7 more

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.001

N/A

0DataRank · unranked

45 citations

Xiao Mao, Hua Wang, Ye-Jin Park, Paul C. Marcogliese, Jill A. Rosenfeld +12 more

Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder

Scientific Reports(2022)10.1038/s41598-022-12789-y

N/A

0DataRank · unranked

23 citations

Audra A. Kramer, Sidharth Tyagi, Daniel F. Bennett, Cynthia J. Tifft, Precilla D’Souza +5 more

Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62889

N/A

0DataRank · unranked

10 citations

Xiaonan Zhao, Amanda Gerard, Fernando Scaglia, Michael F. Wangler, Samantha A. Schrier Vergano +2 more

An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain

Annals of Neurology(2022)10.1002/ana.26359

N/A

0DataRank · unranked

16 citations

Vanesa Lerma, Christina L. Magyar, Jessica M. Pfliger, Aarushi Nayak, Nathan D. Bliss +10 more

De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.06.518921

N/A

0DataRank · unranked

0 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +9 more

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.009

N/A

0DataRank · unranked

13 citations

Ashish R. Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani +30 more

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003

N/A

0DataRank · unranked

48 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 more

Michael F. Wangler

Indexed papers

Top data-sharing exemplar

Papers