Julián A. Martínez-Agosto

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 5%percentile

0.557Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

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

Papers

Driven by 46 papers — median percentile 65. Top paper: “A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome”.

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome

Human Molecular Genetics(2022)10.1093/hmg/ddac111

N/A

0.908DataRank · unranked

35 citations

Booil Jo, Bo Zhang, Thomas Frazier, Anne Gallagher, Fleming Peck +13 more

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207

N/A

0.691DataRank · unranked

99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism

Molecular Autism(2021)10.1186/s13229-020-00406-6

N/A

0.578DataRank · unranked

16 citations

Ritika Jaini, Robyn M. Busch, Matthew Wolf, Tammy Sadler, Patricia Klaas +12 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

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Science Advances(2021)10.1126/sciadv.abf2066

N/A

0.529DataRank · unranked

33 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52046

N/A

0.396DataRank · unranked

13 citations

Sarah Baitamouni, Darren Liu, Robyn M. Busch, Patricia Klaas, Thomas Frazier +10 more

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Neuropathology(2020)10.1111/neup.12641

N/A

0.360DataRank · unranked

10 citations

Négar Khanlou, Hane Lee, Rebecca Signer, Perry B. Shieh, Johnathan Chen +6 more

The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240)

Journal of Child Neurology(2020)10.1177/0883073820943488

N/A

0.312DataRank · unranked

7 citations

Brent L. Fogel, Shafali Jeste, Julián A. Martínez-Agosto, Jessica E. Rexach, Charlotte DiStefano +4 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

Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway

medRxiv(2025)10.1101/2025.08.19.25333388

N/A

0.104DataRank · unranked

1 citations

Gerhard Hellemann, Irma Gutierrez-Mejia, Dzung C. Nguyen, Joshua Sadik, Veronica I. Gandara +7 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

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

N/A

0DataRank · unranked

27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

Scientific Reports(2021)10.1038/s41598-021-90798-z

N/A

0DataRank · unranked

12 citations

Steven D. Klein, Stephen R. Williams, Jeffrey W. Innis, Frank J. Probst, Chad Haldeman‐Englert +6 more

Psychiatric Characteristics Across Individuals With PTEN Mutations

Frontiers in Psychiatry(2021)10.3389/fpsyt.2021.672070

N/A

0DataRank · unranked

17 citations

Mirko Uljarević, Gaëlle Rached, Thomas Frazier, Jennifer M. Phillips, Robin A. Libove +8 more

Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations

Journal of Autism and Developmental Disorders(2021)10.1007/s10803-021-04881-5

N/A

0DataRank · unranked

14 citations

Thomas Frazier, Gaëlle Rached, Robyn M. Busch, Patricia Klaas, Siddharth Srivastava +5 more

Expansion of NEUROD2 phenotypes to include developmental delay without seizures

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62064

N/A

0DataRank · unranked

11 citations

Annalisa G. Sega, Rebecca Signer, Tracy Cartwright, Weizhen Ji, Julián A. Martínez-Agosto +12 more

Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62458

N/A

0DataRank · unranked

7 citations

Thomas Frazier, Gaëlle Rached, Robyn M. Busch, Patricia Klaas, Siddharth Srivastava +5 more

Epigenetic age provides insight into tissue origin in endometriosis

Scientific Reports(2022)10.1038/s41598-022-25416-7

N/A

0DataRank · unranked

8 citations

Iveta Yotova, Steve Horvath, Julián A. Martínez-Agosto, Katie Leap

Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study

Journal of the American Academy of Dermatology(2022)10.1016/j.jaad.2022.01.045

N/A

0DataRank · unranked

8 citations

Lamis Yehia, Christine M. McDonald, Julián A. Martínez-Agosto, Antonio Y. Hardan, Joan Tamburro +4 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Bloom syndrome patients and mice display accelerated epigenetic aging

Aging Cell(2023)10.1111/acel.13964

N/A

0DataRank · unranked

14 citations

Joshua Zhang, Maeve Flanagan, Julián A. Martínez-Agosto, Christopher Cunniff, Nicole Kucine +6 more

Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change

Journal of Neurodevelopmental Disorders(2023)10.1186/s11689-022-09468-4

N/A

0DataRank · unranked

11 citations

Thomas Frazier, Claire Sonneborn, Olivia Hogue, Patricia Klaas, Siddharth Srivastava +5 more

Characterization of spastic paraplegia in a family with a novelPSEN1mutation

Brain Communications(2023)10.1093/braincomms/fcad030

N/A

0DataRank · unranked

11 citations

Naghmeh Dorrani, Sara Gutiérrez Fernández, Rebecca Signer, Julián A. Martínez-Agosto, Hane Lee +20 more

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63226

N/A

0DataRank · unranked

10 citations

Siddharth Srivastava, Pankaj B. Agrawal, Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo +35 more

Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic

Genetics in Medicine(2024)10.1016/j.gim.2024.101333

N/A

0DataRank · unranked

7 citations

David J. Adams, Nicole R. Wong, Benjamin Schneider, Sunil Mehta, Charlotte DiStefano +4 more

Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic

Genetics in Medicine(2024)10.1016/j.gim.2024.101252

N/A

0DataRank · unranked

3 citations

Alexandra M. Klomhaus, David J. Adams, Benjamin Schneider, Sunil Mehta, Charlotte DiStefano +5 more

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

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.13.580158

N/A

0DataRank · unranked

3 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +14 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

Medicaid claims from 2008 to 2016 indicate low rates of genetic testing among children with intellectual disability and autism spectrum disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101451

N/A

0DataRank · unranked

7 citations

Wei-Lin Lee, Jonas Ventimiglia, Audrey Thurm, Tess Levy, Victoria Yuan +3 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

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2025)10.1016/j.gim.2025.101480

N/A

0DataRank · unranked

2 citations

Aya Abu El Haija, James T. Bennett, Leslie G. Biesecker, Matthew A. Deardorff, Evan R. Hathaway +5 more

Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change

American Journal on Intellectual and Developmental Disabilities(2025)10.1352/1944-7558-130.5.344

N/A

0DataRank · unranked

3 citations

Audrey Thurm, Tanvi Das, E. Martina Bebin, Jonathan A. Bernstein, Elizabeth Berry‐Kravis +14 more

SLK is mutated in individuals with a neurodevelopmental disorder

EBioMedicine(2025)10.1016/j.ebiom.2025.105725

N/A

0DataRank · unranked

2 citations

Norah Altuwaijri, Jun‐yi Zhu, Stéphanie Efthymiou, Hangnoh Lee, Jianli Duan +94 more

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64242

N/A

0DataRank · unranked

1 citations

Gail E. Graham, Melissa T. Carter, Maria Kibæk, Christina Fagerberg, Martin J. Larsen +38 more

Genetic Testing Among Medicaid-Insured Children With Autism and Intellectual Disability

JAMA Network Open(2025)10.1001/jamanetworkopen.2025.33518

N/A

0DataRank · unranked

0 citations

Wei-Lin Lee, Jonas Ventimiglia, Scott D. Grosse, Tess Levy, Audrey Thurm +3 more

Contributors

Essentials of Genomic and Personalized Medicine(2010)10.1016/b978-0-12-374934-5.00076-3

N/A

0DataRank · unranked

0 citations

Peter J. Barnes, Ivor J. Benjamin, Mark Boguski, Brigitta Bondy, Roger E. Breitbart +64 more

Clinical determinants of psychiatric care in genetic neurodevelopmental disorders: a cross-sectional analysis

Journal of Neurodevelopmental Disorders(2025)10.1186/s11689-025-09654-0

N/A

0DataRank · unranked

0 citations

Alexandra M. Klomhaus, Nicole R. Wong, Benjamin Schneider, Charlotte DiStefano, Sunil Mehta +5 more

Contributors

Genomic and Personalized Medicine(2009)10.1016/b978-0-12-369420-1.00122-0

N/A

0DataRank · unranked

0 citations

Matthew L. Anderson, Felicita Andreotti, Brian H. Annex, Anthony Antonellis, Dmitri Artemov +272 more

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1397

N/A

0DataRank · unranked

25 citations

Rebecca C. Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch +17 more

Novel NUDT2 variant causes intellectual disability and polyneuropathy

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51209

N/A

0DataRank · unranked

10 citations

Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow +14 more

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.019

N/A

0DataRank · unranked

25 citations

Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke M. van Haelst +43 more

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

medRxiv(2020)10.1101/2020.09.10.20190314

N/A

0DataRank · unranked

1 citations

Georgi Stoyanov, Florian Erger, Jill A. Rosenfeld, Erin Torti, Chad Haldeman‐Englert +18 more

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

medRxiv(2020)10.1101/2020.10.26.20217109

N/A

0DataRank · unranked

0 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

Genotype–phenotype correlations and novel molecular insights into the DHX30 -associated neurodevelopmental disorders

medRxiv(2020)10.1101/2020.09.24.20196097

N/A

0DataRank · unranked

0 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

EIF3F -related neurodevelopmental disorder: delineating and expanding the phenotypic and molecular spectrum

(2020)10.22541/au.160253804.44054844/v1

N/A

0DataRank · unranked

0 citations

Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary‐Alice Abbott, Syed A. Ahmed +34 more

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00900-3

N/A

0DataRank · unranked

31 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

Julián A. Martínez-Agosto

Indexed papers

Top data-sharing exemplar

Papers