Hugo J. Bellen

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

23.4Author DataRank

Indexed papers

8in 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 8 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.

Comprehensive analysis of the chromatin landscape in Drosophila melanogaster

Nature(2010)10.1038/nature09725

Top 2%

8.1DataRank

Top 2%911 citations

Sebastian Will, Yuri B. Schwartz, Aki Minoda, Nicole C. Riddle, Jason Ernst +28 more

Papers

Driven by 112 papers — median percentile 91. Top paper: “Comprehensive analysis of the chromatin landscape in Drosophila melanogaster”.

Comprehensive analysis of the chromatin landscape in Drosophila melanogaster

Nature(2010)10.1038/nature09725

Top 2%

8.1DataRank

Top 2%911 citations

Sebastian Will, Yuri B. Schwartz, Aki Minoda, Nicole C. Riddle, Jason Ernst +28 more

A cis-regulatory map of the Drosophila genome

Nature(2011)10.1038/nature09990

Top 3%

7.0DataRank

Top 3%543 citations

Christopher D. Brown, Christopher Aaron Bristow, Steven W. Miller, Ulrich Wagner, Yanxiao Zhang +40 more

Identification of Functional Elements and Regulatory Circuits by Drosophila modENCODE

Science(2010)10.1126/science.1198374

Top 9%

2.4DataRank

Top 9%1089 citations

Sushmita Roy, Jason Ernst, Peter V. Kharchenko, Yanxiao Zhang, Richard S. Sandstrom +172 more

Aging Fly Cell Atlas identifies exhaustive aging features at cellular resolution

Science(2023)10.1126/science.adg0934

Top 9%

2.4DataRank

Top 9%125 citations

Maria Brbić, Ye-Jin Park, Tyler Jackson, Jiaye Chen, Sai Saroja Kolluru +20 more

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

An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR-mediated homologous recombination

eLife(2022)10.7554/elife.76077

N/A

1.3DataRank · unranked

90 citations

Jonathan Zirin, Yanhui Hu, Burak Tepe, Debdeep Dutta, Wen‐Wen Lin +8 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

Comparative analysis of metazoan chromatin organization

Nature(2014)10.1038/nature13415

N/A

0.910DataRank · unranked

429 citations

Youngsook L. Jung, Tao Liu, Burak H. Alver, Soohyun Lee, Kohta Ikegami +83 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

0.639DataRank · unranked

70 citations

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

OXR1 maintains the retromer to delay brain aging under dietary restriction

Nature Communications(2024)10.1038/s41467-023-44343-3

N/A

0.622DataRank · unranked

17 citations

Sudipta Bar, Eric B. Dammer, Enrique M. Carrera, Brian A. Hodge, Tyler Hilsabeck +19 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

Sphingolipids in neurodegenerative diseases

Frontiers in Neuroscience(2023)10.3389/fnins.2023.1137893

N/A

0.574DataRank · unranked

45 citations

Debdeep Dutta, Shenzhao Lu, Hugo J. Bellen, Xueyang Pan

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay

Human Molecular Genetics(2020)10.1093/hmg/ddaa078

N/A

0.515DataRank · unranked

30 citations

Xiao Mao, Richard H. van Jaarsveld, Li Shu, Paulien A. Terhal, Zhengjun Jia +8 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

Two neuronal peptides encoded from a single transcript regulate mitochondrial complex III in Drosophila

eLife(2022)10.7554/elife.82709

N/A

0.452DataRank · unranked

10 citations

Berrak Uğur, Israel Pichardo‐Casas, Jordan Rabasco, Felipe Escobedo, Zhongyuan Zuo +6 more

Aging Fly Cell Atlas Identifies Exhaustive Aging Features at Cellular Resolution

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.06.519355

Top 45%

0.415DataRank

Top 45%7 citations

Maria Brbić, Ye-Jin Park, Tyler Jackson, Jiaye Chen, Sai Saroja Kolluru +20 more

Whole organism snRNA-seq reveals systemic peripheral changes in Alzheimer’s Disease fly models

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.03.10.584317

Top 45%

0.407DataRank

Top 45%9 citations

Tzu‐Chiao Lu, Tyler Jackson, Lindsey D. Goodman, L. Ran, Jiaye Chen +9 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

0.345DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +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

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

Systematic expression profiling of dprs and DIPs reveals cell surface codes in Drosophila larval peripheral neurons

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.20.465173

N/A

0DataRank · unranked

1 citations

Meike Lobb-Rabe, James Ashley, Purujit Chatterjee, Veera Anand, Hugo J. Bellen +3 more

An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR mediated homologous recombination

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.24.474112

N/A

0DataRank · unranked

1 citations

Jonathan Zirin, Yanhui Hu, Burak Tepe, Debdeep Dutta, Wen‐Wen Lin +8 more

Loss of Activity-Induced Mitochondrial ATP Production Underlies the Synaptic Defects in a Drosophila model of ALS

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.14.472444

N/A

0DataRank · unranked

0 citations

Kai Li Tan, Hugo J. Bellen, Kartik Venkatachalam, Ching‐On Wong, Nicholas E. Karagas

Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.01.020

N/A

0DataRank · unranked

39 citations

Rebecca Hernan, Paul C. Marcogliese, Yan Huang, Tracy S. Gertler, Meltem Akçaboy +13 more

'Fly-ing' from rare to common neurodegenerative disease mechanisms

Trends in Genetics(2022)10.1016/j.tig.2022.03.018

N/A

0DataRank · unranked

35 citations

Matthew J. Moulton, Shenzhao Lu, Hugo J. Bellen, Mengqi Ma

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

0DataRank · 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

0DataRank · unranked

27 citations

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

Systematic expression profiling of Dpr and DIP genes reveals cell surface codes in Drosophila larval motor and sensory neurons

Development(2022)10.1242/dev.200355

N/A

0DataRank · unranked

24 citations

Meike Lobb-Rabe, James Ashley, Purujit Chatterjee, Veera Anand, Hugo J. Bellen +3 more

Daam2 Regulates Myelin Structure and the Oligodendrocyte Actin Cytoskeleton through Rac1 and Gelsolin

Journal of Neuroscience(2022)10.1523/jneurosci.1517-21.2022

N/A

0DataRank · unranked

23 citations

Chih-Yen Wang, Zhongyuan Zuo, Joshua A. Smith, Aaron Lindeke-Myers, Hugo J. Bellen +2 more

The fly homolog ofSUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival

Human Molecular Genetics(2022)10.1093/hmg/ddac259

N/A

0DataRank · unranked

21 citations

Xi Zhang, Yiming Zheng, Shenzhao Lu, Xueyang Pan, Xiao Mao +6 more

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Human Molecular Genetics(2022)10.1093/hmg/ddac053

N/A

0DataRank · unranked

17 citations

Patrick Rump, Di Lu, Megan R. Glassford, Jung-Wan Mok, Jawid M. Fatih +12 more

Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms

Human Molecular Genetics(2022)10.1093/hmg/ddac070

N/A

0DataRank · unranked

17 citations

Mengqi Ma, Xiao Mao, Davut Pehli̇van, Oguz Kanca, Feride Un-Candan +10 more

Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy

Cell Reports(2022)10.1016/j.celrep.2022.111751

N/A

0DataRank · unranked

17 citations

Debdeep Dutta, Cassandra N. Dennys, Samantha K. Powers, Florence Roussel, Paweł Lisowski +12 more

Promoting validation and cross-phylogenetic integration in model organism research

Disease Models & Mechanisms(2022)10.1242/dmm.049600

N/A

0DataRank · unranked

13 citations

Rebecca D. Burdine, Mary E. Dickinson, Stephen C. Ekker, Alex Y. Lin, K. C. Kent Lloyd +13 more

Drosophila as a diet discovery tool for treating amino acid disorders

Trends in Endocrinology and Metabolism(2022)10.1016/j.tem.2022.12.004

N/A

0DataRank · unranked

12 citations

Felipe Martelli, Jiayi Lin, Oguz Kanca, John Christodoulou, Hugo J. Bellen +3 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

0DataRank · unranked

15 citations

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

Autolysosomal exocytosis of lipids protect neurons from ferroptosis

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.11.24.517842

N/A

0DataRank · unranked

1 citations

Jinlan Chang, Matthew J. Moulton, Lindsey D. Goodman, Nathanael Y.J. Lee, Greg Plummer +5 more

OXR1 maintains the retromer to delay brain aging under dietary restriction

Research Square(2022)10.21203/rs.3.rs-1455343/v1

N/A

0DataRank · unranked

0 citations

Kenneth A. Wilson, Sudipta Bar, Eric B. Dammer, Brian A. Hodge, Enrique M. Carrera +16 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

Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation

Cell Metabolism(2023)10.1016/j.cmet.2023.03.022

N/A

0DataRank · unranked

73 citations

Qi Ye, Ye-Jin Park, Zhongyuan Zuo, Jung-Wan Mok, Oguz Kanca +6 more

Autolysosomal exocytosis of lipids protect neurons from ferroptosis

The Journal of Cell Biology(2023)10.1083/jcb.202207130

N/A

0DataRank · unranked

38 citations

Jinlan Chang, Matthew J. Moulton, Lindsey D. Goodman, Nathanael Y. J. Lee, Greg Plummer +5 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

A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels

Nature Metabolism(2023)10.1038/s42255-023-00873-0

N/A

0DataRank · unranked

27 citations

Oguz Kanca, Seul Kee Byeon, Paul C. Marcogliese, Zhongyuan Zuo, Rishi V. Shridharan +11 more

Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14)

eLife(2023)10.7554/elife.82555

N/A

0DataRank · unranked

17 citations

Burak Tepe, Geoff McGrane, Regine Tipon, Gist F. Croft, Leena Panwala +8 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

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

Daam2 phosphorylation by CK2α negatively regulates Wnt activity during white matter development and injury

Proceedings of the National Academy of Sciences(2023)10.1073/pnas.2304112120

N/A

0DataRank · unranked

9 citations

Zhongyuan Zuo, Ju-Yeon Jo, Kyoung In Kim, Christine Madamba, Ye Qi +4 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

Glia-neuron coupling via a bipartite sialylation pathway promotes neural transmission and stress tolerance in Drosophila

eLife(2023)10.7554/elife.78280

N/A

0DataRank · unranked

7 citations

Boris Novikov, Berrak Uğur, Brooke Allen, И. Б. Мерцалов, Pedro Monagas-Valentin +9 more

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

eLife(2023)10.7554/elife.89891

N/A

0DataRank · unranked

8 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 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

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

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

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

(2023)10.7554/elife.89891.1

N/A

0DataRank · unranked

3 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 more

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

(2023)10.7554/elife.89891.2

N/A

0DataRank · unranked

2 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 more

CK2α-dependent regulation of Wnt activity governs white matter development and repair

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.04.11.536369

N/A

0DataRank · unranked

0 citations

Zhongyuan Zuo, Kyoung In Kim, Hugo J. Bellen, Hyun Kyoung Lee, Chih‐Yen Wang

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

medRxiv(2023)10.1101/2023.07.17.23292782

N/A

0DataRank · unranked

0 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 more

eLife Assessment: Synaptotagmin 7 transiently docks synaptic vesicles to support facilitation and Doc2α-triggered asynchronous release

(2023)10.7554/elife.90632.1.sa2

N/A

0DataRank · unranked

0 citations

Hugo J. Bellen

Reviewer #3 (Public Review): Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

(2023)10.7554/elife.89891.2.sa0

N/A

0DataRank · unranked

0 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael W. Crawford, Lauren C. Briere +8 more

Tau is required for glial lipid droplet formation and resistance to neuronal oxidative stress

Nature Neuroscience(2024)10.1038/s41593-024-01740-1

N/A

0DataRank · unranked

53 citations

Isha Ralhan, Xin Li, Shenzhao Lu, Matthew J. Moulton, Ye-Jin Park +10 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

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

Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila

Nature Communications(2024)10.1038/s41467-024-47623-8

N/A

0DataRank · unranked

20 citations

Hyung-Lok Chung, Claire R. Y. Shih, Kenneth Kin Lam Wong, Debdeep Dutta, Zelha Nil +9 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

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 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

0DataRank · unranked

10 citations

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

Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics

Cell Reports(2024)10.1016/j.celrep.2024.113861

N/A

0DataRank · unranked

7 citations

Jiayi Lin, Sarah Mele, Wendy L. Imlach, Oguz Kanca, Christopher K. Barlow +7 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

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

0DataRank · unranked

6 citations

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

0DataRank · unranked

4 citations

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

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

0DataRank · unranked

3 citations

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

Alzheimer’s disease risk allele of PICALM causes detrimental lipid droplets in microglia

Research Square(2024)10.21203/rs.3.rs-4407146/v1

N/A

0DataRank · unranked

8 citations

Alena A. Kozlova, Siwei Zhang, Ari Sudwards, Hanwen Zhang, Stanislau Smirnou +11 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

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

eLife Assessment: DBT is a metabolic switch for maintenance of proteostasis under proteasomal impairment

(2024)10.7554/elife.91002.2.sa2

N/A

0DataRank · unranked

0 citations

Hugo J. Bellen

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

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

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Neuron(2025)10.1016/j.neuron.2025.04.017

N/A

0DataRank · unranked

18 citations

Tzu‐Chiao Lu, Tyler Jackson, Lindsey D. Goodman, L. Ran, Jiaye Chen +15 more

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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

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

N/A

0DataRank · unranked

7 citations

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

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Nature Communications(2025)10.1038/s41467-025-60611-w

N/A

0DataRank · unranked

3 citations

Surbhi Chaudhary, Weiqing Chen, Jonathan W. Astin, Philip S. Crosier, Pengchun Yu +10 more

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Journal of genetics and genomics/Journal of Genetics and Genomics(2025)10.1016/j.jgg.2025.04.004

N/A

0DataRank · unranked

1 citations

Zhenglong Xiang, Yaqin Xiang, Pan Hu, Mei He, Zhenming Guo +11 more

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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

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

N/A

0DataRank · unranked

1 citations

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(2025)10.7554/elife.105386.1.sa3

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0DataRank · unranked

0 citations

Hugo J. Bellen

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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

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bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.07.24.666383

N/A

0DataRank · unranked

0 citations

Shabab B. Hannan, Mingxue Gu, Colleen E Strohlein, Lindsey D. Goodman, Sasidhar Pasupuleti +14 more

Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.10.003

N/A

0DataRank · unranked

0 citations

Shabab B. Hannan, Mingxue Gu, Colleen E Strohlein, Lindsey D. Goodman, Sasidhar Pasupuleti +14 more

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Neuron(2020)10.1016/j.neuron.2020.02.021

N/A

0DataRank · unranked

165 citations

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

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eLife(2020)10.7554/elife.59419

N/A

0DataRank · unranked

78 citations

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Journal of Neuroscience(2020)10.1523/jneurosci.0142-20.2020

N/A

0DataRank · unranked

76 citations

Jasper Janssens, Pei-Tseng Lee, Burak Tepe, Paul C. Marcogliese, Samira Makhzami +4 more

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The FASEB Journal(2020)10.1096/fj.201903100rr

N/A

0DataRank · unranked

45 citations

Yang Li, Zhengmei Mao, Xueyang Pan, Yueshui Zhao, Xue Gu +11 more

Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases

Development(2020)10.1242/dev.191411

N/A

0DataRank · unranked

57 citations

Hugo J. Bellen, Nichole Link

Retromer subunit, VPS29, regulates synaptic transmission and is required for endolysosomal function in the aging brain

eLife(2020)10.7554/elife.51977

N/A

0DataRank · unranked

50 citations

Shamsideen A. Ojelade, David Li‐Kroeger, Zhongyuan Zuo, Liping Wang, Yarong Li +6 more

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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

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

Elevated COUP-TFII expression in dopaminergic neurons accelerates the progression of Parkinson’s disease through mitochondrial dysfunction

PLoS Genetics(2020)10.1371/journal.pgen.1008868

N/A

0DataRank · unranked

23 citations

Mafei Xu, Leiming Wang, Shih‐Chieh Lin, Hui-Ju Lee, Lita Duraine +5 more

The Daam2–VHL–Nedd4 axis governs developmental and regenerative oligodendrocyte differentiation

Genes & Development(2020)10.1101/gad.338046.120

N/A

0DataRank · unranked

33 citations

Ju-Yeon Jo, Chih‐Yen Wang, Carlo D. Cristobal, Zhongyuan Zuo, Ye Qi +10 more

Two neuronal peptides encoded from a single transcript regulate mitochondrial complex III in Drosophila

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.01.182485

N/A

0DataRank · unranked

0 citations

Berrak Uğur, Israel Pichardo‐Casas, Jorden Rabasco, Felipe Escobedo, Zhongyuan Zuo +6 more

Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer’s disease–associated genes

Proceedings of the National Academy of Sciences(2021)10.1073/pnas.2112095118

N/A

0DataRank · unranked

175 citations

Scott Barish, Isha Ralhan, Jinlan Chang, Lindsey D. Goodman, Jake G. Harland +5 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

Recent insights into the role of glia and oxidative stress in Alzheimer's disease gained from Drosophila

Current Opinion in Neurobiology(2021)10.1016/j.conb.2021.07.012

N/A

0DataRank · unranked

29 citations

Hugo J. Bellen, Lindsey D. Goodman

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

Brain(2021)10.1093/brain/awab409

N/A

0DataRank · unranked

17 citations

Jolien Roovers, Noor Smal, Candace T. Myers, Dilşad Türkdoğan, Filip Roelens +29 more

Neuronal ROS-Induced Glial Lipid Droplet Formation is Altered by Loss of Alzheimer’s Disease-associated Genes

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.03.433580

N/A

0DataRank · unranked

13 citations

Scott Barish, Isha Ralhan, Jinlan Chang, Lindsey D. Goodman, Jake G. Harland +5 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

0DataRank · unranked

3 citations

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

Low doses of the organic insecticide spinosad trigger lysosomal defects, ROS driven lipid dysregulation and neurodegeneration in flies

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.02.03.429672

N/A

0DataRank · unranked

1 citations

Zhongyuan Zuo, Julia Wang, Ching‐On Wong, Nicholas E. Karagas, Ute Roessner +6 more

Hugo J. Bellen

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