Daniel C. Koboldt

MedicineBiochemistry, 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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 7 papers. Top paper: “Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition”.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5

N/A

0.241DataRank · unranked

4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy

UNC Libraries(2024)10.17615/8wx3-1a14

N/A

0DataRank · unranked

0 citations

Katherine E. Miller, Diana Thomas, Christopher R. Pierson, Gretchen K. Von Allmen, Edward Yang +29 more

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes

npj Genomic Medicine(2024)10.1038/s41525-024-00454-4

N/A

0DataRank · unranked

12 citations

Maria Elena Hernandez‐Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison C. Daley, Leeran Dublin-Ryan +11 more

Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64093

N/A

0DataRank · unranked

2 citations

Chi Vicky Cheng, Stefano Giuseppe Caraffi, Ivan Ivanovski, Gianluca Piatelli, Edoardo Errichiello +29 more

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64280

N/A

0DataRank · unranked

0 citations

Allison C. Daley, Emily Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew +4 more

Detection of the Heterozygous Recurrent MAX p.( Arg60Gln ) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics(2025)10.1111/cge.70101

N/A

0DataRank · unranked

0 citations

Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann +5 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w

N/A

0DataRank · unranked

2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more