Kathleen Sisco

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: “Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses”.

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

Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61518

N/A

0DataRank · unranked

37 citations

Rebecca C. Spillmann, Daniel Wegner, Jennifer Wambach, Frances V. White, Kathleen Sisco +6 more

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.009

N/A

0DataRank · unranked

13 citations

Ashish R. Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani +30 more

Case report: ocular manifestations of a gain-of-function mutation in CLCN6 , a newly diagnosed disease

Ophthalmic Genetics(2023)10.1080/13816810.2023.2291683

N/A

0DataRank · unranked

0 citations

Sameera Nadimpalli, Sudhi P. Kurup, F. Sessions Cole, Russell Huang, Kathleen Sisco +7 more

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63854

N/A

0DataRank · unranked

0 citations

Daniel Wegner, Jennifer Wambach, Kathleen Sisco, Stephen Stone, Jonathan H. Sheehan +6 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

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.109004

N/A

0DataRank · unranked

0 citations

Daniel Wegner, Alexander J. Paul, William Buchser, Robert G. Schmidt, Jai Prakash Sharma +14 more