Michael Zech

Also affiliated with Institute for Advanced Study, Technical University of Munich

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 18 papers. Top paper: “POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies”.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.014

N/A

0.457DataRank · unranked

20 citations

Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep +40 more

Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies

Movement Disorders(2024)10.1002/mds.29968

N/A

0.241DataRank · unranked

4 citations

Katja Lohmann, Eva‐Juliane Vollstedt, Tobias Reinberger, Lisa‐Marie Nuxoll, Gamze Kilic‐Berkmen +53 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

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206

N/A

0DataRank · unranked

31 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia

Movement Disorders(2021)10.1002/mds.28821

N/A

0DataRank · unranked

22 citations

Michael Zech, Robert B. Hufnagel, Jesse Slone, Xinjian Wang, Shelli M. Homan +13 more

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

Journal of Biological Chemistry(2023)10.1016/j.jbc.2023.105012

N/A

0DataRank · unranked

17 citations

Anika L. Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson +6 more

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.15.532669

N/A

0DataRank · unranked

4 citations

Anika L. Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson +6 more

Clinical actionability of genetic findings in cerebral palsy

medRxiv(2023)10.1101/2023.09.08.23295195

N/A

0DataRank · unranked

4 citations

Maya Chopra, Julie S. Cohen, Jennifer Bain, Bhooma R. Aravamuthan, Jason B. Carmel +10 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

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

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Communications Biology(2024)10.1038/s42003-024-06466-1

N/A

0DataRank · unranked

12 citations

Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen +17 more

Emerging Molecular‐Genetic Families in Dystonia: Endosome‐Autophagosome‐Lysosome and Integrated Stress Response Pathways

Movement Disorders(2024)10.1002/mds.30037

N/A

0DataRank · unranked

11 citations

Michael Zech, Nicole Calakos

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

N/A

0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 more

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Nature Communications(2024)10.1038/s41467-024-52095-x

N/A

0DataRank · unranked

9 citations

Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan +53 more

A Novel α‐Synuclein K58N Missense Variant in a Patient with Parkinson's Disease

Movement Disorders(2025)10.1002/mds.70030

N/A

0DataRank · unranked

3 citations

Sandrina Weber, Nagendran Ramalingam, Maria Ramón, Liana Shvachiy, Gonçalo Mestre +20 more

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

A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features

Molecular Neurodegeneration(2025)10.1186/s13024-025-00889-y

N/A

0DataRank · unranked

3 citations

Mohammed Al‐Azzani, Nagendran Ramalingam, Maria Ramón, Rita L. Sousa, Fiamma A. Buratti +15 more

Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability

medRxiv(2020)10.1101/2020.10.10.20202622

N/A

0DataRank · unranked

0 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more