Hartmut Engels

Also affiliated with University Hospital Bonn

Biochemistry, Genetics and Molecular BiologyAgricultural and Biological Sciences

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 9 papers. Top paper: “Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome”.

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

medRxiv(2020)10.1101/2020.08.31.20184481

N/A

0DataRank · unranked

3 citations

Keith A. Breau, Blake A. Creighton, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +63 more

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature Genetics(2021)10.1038/s41588-021-00886-z

N/A

0DataRank · unranked

108 citations

Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +70 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z

N/A

0DataRank · unranked

10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human Molecular Genetics(2023)10.1093/hmg/ddad124

N/A

0DataRank · unranked

7 citations

Baozhong Xin, Iris Nira Smith, Valerie Sency, Julia Szekely, Anna Alkelai +49 more

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

medRxiv(2023)10.1101/2023.03.27.23287689

N/A

0DataRank · unranked

3 citations

Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa Lerma +40 more

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Nature Genetics(2024)10.1038/s41588-024-01836-1

N/A

0DataRank · unranked

49 citations

Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh +95 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.019

N/A

0DataRank · unranked

5 citations

Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Kirsten Cremer +29 more

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models

Genetics in Medicine(2025)10.1016/j.gim.2025.101625

N/A

0DataRank · unranked

0 citations

Zubair M. Ahmed, Yaping Ji, Axel Schmidt, Meron Azage, María Palomares‐Bralo +10 more