Hans van Bokhoven

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 6 papers. Top paper: “Variants in CUL4B are Associated with Cerebral Malformations”.

Variants in CUL4B are Associated with Cerebral Malformations

UNC Libraries(2020)10.17615/wkgc-ft42

N/A

0DataRank · unranked

3 citations

Krysta Voesenek, Michèl A.A.P. Willemsen, Ewa Obersztyn, Yue Xiong, Bert B.A. de Vries +24 more

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.010

N/A

0DataRank · unranked

21 citations

Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman +23 more

Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability

European Journal of Human Genetics(2021)10.1038/s41431-021-00968-w

N/A

0DataRank · unranked

11 citations

Faiza Rasheed, Muhammad Rashid, Hans van Bokhoven, Zubair M. Ahmed, Sheikh Riazuddin +2 more

KMT2D haploinsufficiency in Kabuki syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.04.22.440945

N/A

0DataRank · unranked

13 citations

Alessandro Vitriolo, Sara Cuvertino, Marlene F. Pereira, Celeste Franconi, Pierre‐Luc Germain +21 more

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.02.001

N/A

0DataRank · unranked

48 citations

Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard +32 more

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Nature Genetics(2023)10.1038/s41588-023-01424-9

N/A

0DataRank · unranked

37 citations

Silvio Alessandro Di Gioia, Bryn D. Webb, Wai‐Man Chan, Elke de Boer, Sarah J. Garnai +53 more