Karen Stals

Royal Devon & Exeter NHS Foundation Trust

Biochemistry, Genetics and Molecular BiologyChemistry

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 11 papers. Top paper: “Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism”.

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.01.007

N/A

0DataRank · unranked

52 citations

Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen Stals +24 more

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003

N/A

0DataRank · unranked

48 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 more

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.015

N/A

0DataRank · unranked

93 citations

Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace +95 more

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

Annals of Neurology(2021)10.1002/ana.26127

N/A

0DataRank · unranked

7 citations

Melanie T. Achleitner, Dietrich Trümbach, Laurence Hubert, Arnold Münnich, Barbara Ahlemeyer +26 more

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5

N/A

0DataRank · unranked

25 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 more

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Genetics in Medicine(2023)10.1016/j.gim.2023.101023

N/A

0DataRank · unranked

11 citations

Emily K. Mis, Kirsty McWalter, Sandra Donkervoort, Nina N. Brodsky, Jean-Marie Carpier +95 more

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

PLoS Genetics(2023)10.1371/journal.pgen.1011005

N/A

0DataRank · unranked

12 citations

Bo Zhang, Megan Washington, I-Wen Song, Lindsay C. Burrage, Vittoria Rossi +28 more

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64119

N/A

0DataRank · unranked

3 citations

Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland +12 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.12.004

N/A

0DataRank · unranked

1 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa S. Rajan, Senta Schönnagel +53 more

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Clinical Genetics(2025)10.1111/cge.70057

N/A

0DataRank · unranked

1 citations

Lu Qiao, Rebecca Hernan, David A. Sweetser, Jessica L. Waxler, Daryl A. Scott +34 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

medRxiv(2025)10.1101/2025.03.31.25324695

N/A

0DataRank · unranked

2 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Rajan, Senta Schönnagel +54 more