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

Steve Seltzsam

Boston Children's Hospital

ORCID: 0000-0002-1269-6899

Also affiliated with Harvard University

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 14 papers. Top paper: “Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)”.

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Genetics in Medicine(2020)10.1038/s41436-020-0844-z

N/A

0DataRank · unranked

22 citations

Nina Mann, Makiko Nakayama, Dervla M. Connaughton, Rufeng Dai, Caroline M. Kolvenbach +17 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

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

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 Nephron 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

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

npj Genomic Medicine(2024)10.1038/s41525-024-00398-9

N/A

0DataRank · unranked

3 citations

Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes +66 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

Genetic Contributions to Lower Urinary Tract Dysfunction

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63859

N/A

0DataRank · unranked

2 citations

Steve Seltzsam, Chunyan Wang, Ted Lee, Leah Bolsius, Mohamed Shalaby +6 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