🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Jorge L. Granadillo

ORCID: 0000-0003-4243-204X
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 7%percentile
0.104Author 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 →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Neurobehavioral Profiles and Clinical Consequences of MYT1L-Related Neurodevelopmental Disorder: Insights from the Brain Gene Registry

medRxiv(2025)10.64898/2025.12.01.25340510
Top 78%
0.104DataRank
Top 78%1 citations

Levi Kaster, Daleep Grewal, Allyson Schreiber, Anna M. Abbacchi, Virginia Lanzotti +5 more

Papers

Driven by 14 papers — median percentile 22. Top paper: “Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations”.

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

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.04.011
N/A
0.241DataRank · unranked
4 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +32 more

Detailed Clinical and Functional Studies of New MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian and Sleep Homeostasis

medRxiv(2022)10.1101/2022.02.15.22269076
N/A
0.208DataRank · unranked
3 citations

Yang Shen, Destino Roman, Hongzhi He, Carolyn R. Serbinski, Lindsey Aschbacher‐Smith +9 more

Neurobehavioral Profiles and Clinical Consequences of MYT1L-Related Neurodevelopmental Disorder: Insights from the Brain Gene Registry

medRxiv(2025)10.64898/2025.12.01.25340510
Top 78%
0.104DataRank
Top 78%1 citations

Levi Kaster, Daleep Grewal, Allyson Schreiber, Anna M. Abbacchi, Virginia Lanzotti +5 more

Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100333
N/A
0DataRank · unranked
3 citations

Yang Shen, Carolyn R. Serbinski, Hongzhi He, Destino Roman, Mehari Endale +10 more

A survey of hypothalamic phenotypes identifies molecular and behavioral consequences of MYT1L haploinsufficiency in male and female mice

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.11.25.625294
N/A
0DataRank · unranked
2 citations

Katherine B. McCullough, Sneha Chaturvedi, Din Selmanovic, Rebecca Chase, Jiayang Chen +5 more

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956
N/A
0DataRank · unranked
0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

A survey of hypothalamic phenotypes identifies molecular and behavioral consequences of MYT1L haploinsufficiency in male and female mice

Hormones and Behavior(2025)10.1016/j.yhbeh.2025.105796
N/A
0DataRank · unranked
1 citations

Katherine B. McCullough, Sneha Chaturvedi, Din Selmanovic, Rebecca Chase, Jiayang Chen +5 more

Variants in BSN , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

medRxiv(2025)10.1101/2025.02.10.25321755
N/A
0DataRank · unranked
0 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +34 more

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61962
N/A
0DataRank · unranked
10 citations

Daniel Wegner, Alexander J. Paul, Marcia Willing, Kathleen Sisco, Matthew L. Tedder +6 more

Severe Neurological Presentation in Siblings With COQ5 ‐Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum

JIMD Reports(2025)10.1002/jmd2.70038
N/A
0DataRank · unranked
0 citations

Rachel M. Guerra, David A. Wenger, Samantha Toy, J Hauer, David J. Pagliarini +2 more

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Nature Communications(2021)10.1038/s41467-021-21053-2
N/A
0DataRank · unranked
65 citations

Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino +19 more

PTPN4 germline variants result in aberrant neurodevelopment and growth

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100033
N/A
0DataRank · unranked
6 citations

Deepika Burkardt, Jorge L. Granadillo, Rachel Slaugh, Shamile Morgan, Joshua Rotenberg +11 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