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

Kamal Khan

Lurie Children's Hospital

ORCID: 0000-0002-8366-4237

Also affiliated with Alberta Hospital Edmonton

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 5 papers. Top paper: “TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci”.

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci

Human Molecular Genetics(2020)10.1093/hmg/ddaa120
N/A
0DataRank · unranked
22 citations

Ravikumar Balasubramanian, Zachary A Kupchinsky, David L. Keefe, Lacey Plummer, Kamal Khan +19 more

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008
N/A
0DataRank · unranked
27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations

Kidney International(2021)10.1016/j.kint.2021.09.034
N/A
0DataRank · unranked
27 citations

Dina Ahram, Yangfan P. Liu, Rik Westland, Rosemary V. Sampogna, Nicholas Katsanis +3 more

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

Genetics in Medicine(2023)10.1016/j.gim.2023.101057
N/A
0DataRank · unranked
11 citations

Kamal Khan, Claire Bénéteau, Rachel Fox, Sandra von Hardenberg, Ayaz Khan +23 more

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.015
N/A
0DataRank · unranked
0 citations

Maayke A. de Koning, Kamal Khan, Kelly L. Gilmore, Mariëtte J.V. Hoffer, Georgios Kellaris +21 more