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

Luca Schierbaum

Boston Children's Hospital

ORCID: 0009-0002-4884-9647

Also affiliated with Harvard University, Boston Children's Museum

Biochemistry, Genetics and Molecular BiologyNeuroscienceMedicine

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 6%percentile
0.241Author 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.

The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)

Neurology Genetics(2025)10.1212/nxg.0000000000200249
Top 61%
0.241DataRank
Top 61%4 citations

Vicente Quiroz, Kathryn Yang, Joshua Rong, Nicole Battaglia, Umar Zubair +19 more

Papers

Driven by 17 papers — median percentile 39. Top paper: “The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)”.

The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)

Neurology Genetics(2025)10.1212/nxg.0000000000200249
Top 61%
0.241DataRank
Top 61%4 citations

Vicente Quiroz, Kathryn Yang, Joshua Rong, Nicole Battaglia, Umar Zubair +19 more

Whole-exome sequencing identifiesFOXL2,FOXA2andFOXA3as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract

Nephrology Dialysis Transplantation(2021)10.1093/ndt/gfab253
N/A
0DataRank · unranked
11 citations

Steve Seltzsam, Chunyan Wang, Luca Schierbaum, Sophia Schneider, Chen‐Han Wilfred Wu +12 more

A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62502
N/A
0DataRank · unranked
7 citations

Chunyan Wang, Steve Seltzsam, Sophia Schneider, Luca Schierbaum, Wilfred Wu +11 more

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

European Urology Open Science(2022)10.1016/j.euros.2022.08.004
N/A
0DataRank · unranked
12 citations

Tze Yin Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum +31 more

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Journal of the American Society of Nephrology(2022)10.1681/asn.2022010050
N/A
0DataRank · unranked
8 citations

Friedhelm Hildebrandt, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth +28 more

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62644
N/A
0DataRank · unranked
7 citations

Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu, Camille Nicolas‐Frank, Kirollos Yousef +23 more

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

Journal of Medical Genetics(2022)10.1136/jmg-2022-108738
N/A
0DataRank · unranked
7 citations

Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska +18 more

Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

˜The œNephron journals/Nephron journals(2023)10.1159/000531770
N/A
0DataRank · unranked
5 citations

Sophia Schneider, Friedhelm Hildebrandt, Abdul A. Halawi, Steve Seltzsam, Chunyan Wang +10 more

Recessive CHRM5 variant as a potential cause of neurogenic bladder

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63241
N/A
0DataRank · unranked
4 citations

Luca Schierbaum, Wessel A. C. Burger, Steve Seltzsam, Chunyan Wang, Bixia Zheng +13 more

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63127
N/A
0DataRank · unranked
3 citations

Bixia Zheng, Lea M. Merz, Nils D. Mertens, Bshara Mansour, Chunyan Wang +10 more

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations

Genetics in Medicine(2024)10.1016/j.gim.2024.101349
N/A
0DataRank · unranked
12 citations

Amy Tam, Silja Richter, Vicente Quiroz, Luca Schierbaum, Afshin Saffari +2 more

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

Genes & Diseases(2024)10.1016/j.gendis.2024.101280
N/A
0DataRank · unranked
3 citations

Shirlee Shril, Friedhelm Hildebrandt, Konstantin Deutsch, Kirollos Yousef, Camille Nicolas Frank +38 more

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

Journal of Clinical Investigation(2024)10.1172/jci178919
N/A
0DataRank · unranked
3 citations

Laura Planas‐Serra, Abigail Sveden, Amy Tam, Hyo‐Min Kim, Umar Zubair +10 more

Expanding molecular and clinical spectrum of CPT1C‐associated hereditary spastic paraplegia (SPG73)—a case series

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52288
N/A
0DataRank · unranked
3 citations

Vicente Quiroz, Luca Schierbaum, Amy Tam, Julian E. Alecu, Darius Ebrahimi‐Fakhari +1 more

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

Genetics in Medicine(2025)10.1016/j.gim.2025.101432
N/A
0DataRank · unranked
5 citations

Caroline M. Kolvenbach, Chunyan Wang, Nils D. Mertens, Steve Seltzsam, Bshara Mansour +49 more

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.008
N/A
0DataRank · unranked
34 citations

Konstantin Deutsch, Gregory J. Hoeprich, Jonathan Marquez, Tobias Hermle, Daniela A. Braun +28 more

Fetal and Perinatal Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia

Annals of the Child Neurology Society(2025)10.1002/cns3.70035
N/A
0DataRank · unranked
0 citations

Vicente Quiroz, Luca Schierbaum, Julian E. Alecu, Katerina Bernardi, Nicole Battaglia +6 more