Yorck Hellenbroich

The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.

Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.

How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.

Assessed papers (4)

• Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
  2025 L1 76/100
• Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis
  2025 L1 88/100
• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findi
  2024 L1 87/100
• Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
  2010 96/100

4 assessed by us (4 reproduced) · 85 not yet assessed — every PubMed paper on record, linked below.

• Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia ↗

  Nature Communications · 2026 · PMID 41690933
  not yet assessed
• Phenotypic spectrum of FGF14-related late-onset ataxia: predominant tremor and cognitive decline as key features of SCA27A ↗

  Journal of Neurology · 2026 · PMID 42126598
  not yet assessed
• Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis

  Genome Medicine · 2025 · PMID 40963120
  L1 88/100
• Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing ↗

  Brain · 2025 · PMID 40898875
  not yet assessed
• Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

  Nature Genetics · 2025 · PMID 40555819
  L1 76/100
• Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

  RWTH Publications (RWTH Aachen) · 2025
  not yet assessed
• A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy ↗

  Nature Genetics · 2024 · PMID 38684900
  not yet assessed
• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

  Nature Genetics · 2024 · PMID 39039281
  L1 87/100
• Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity ↗

  Journal of Neurology · 2024 · PMID 39095619
  not yet assessed
• An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia? ↗

  Muscles · 2024 · PMID 40757551
  not yet assessed
• Evaluating Genome Sequencing Strategies: Trio, Singleton, and Standard Testing in Rare Disease Diagnosis ↗

  medRxiv · 2024
  not yet assessed
• Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing ↗

  European Journal of Medical Genetics · 2023 · PMID 37120078
  not yet assessed
• Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings ↗

  medRxiv · 2023
  not yet assessed
• GGC expansion in <i>ZFHX3</i> causes SCA4 and impairs autophagy ↗

  medRxiv · 2023
  not yet assessed
• LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death ↗

  Genes · 2022 · PMID 35205214
  not yet assessed
• Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5 ↗

  Movement Disorders Clinical Practice · 2022 · PMID 36339300
  not yet assessed
• <i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond ↗

  Clinical Genetics · 2021 · PMID 33955014
  not yet assessed
• Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy ↗

  Annals of Clinical and Translational Neurology · 2021 · PMID 34092044
  not yet assessed
• Lymphangioma of the fetal neck within the PIK3CA‐related‐overgrowth spectrum (PROS): A case report ↗

  Clinical Case Reports · 2021 · PMID 34306701
  not yet assessed
• Compound Heterozygous <scp><i>DARS2</i></scp> Mutations as a Mimic of Hereditary Spastic Paraplegia ↗

  Movement Disorders Clinical Practice · 2021 · PMID 34405109
  not yet assessed
• Lymphangioma of the fetal neck within the PIK3CA-Related-Overgrowth Spectrum (PROS): A case report. ↗

  2021
  not yet assessed
• Author response for "ANKRD11 variants: KBG syndrome and beyond" ↗

  2021
  not yet assessed
• Clinical spectrum of the pentanucleotide repeat expansion in the <i>RFC1</i> gene in ataxia syndromes ↗

  Neurology · 2020 · PMID 32873692
  not yet assessed
• De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies ↗

  The American Journal of Human Genetics · 2019 · PMID 30612693
  not yet assessed
• Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema ↗

  Clinical and Translational Allergy · 2019 · PMID 30809376
  not yet assessed
• Genetik in der Reproduktionsmedizin ↗

  Springer Reference Medizin · 2019
  not yet assessed
• Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2019
  not yet assessed
• Kongenitale Schäden und Erkrankungen der Kochlea und des Vestibularorgans ↗

  Elsevier eBooks · 2018
  not yet assessed
• Pearls &amp; Oy-sters: Family history of Huntington disease disguised a case of dentatorubral-pallidoluysian atrophy ↗

  Neurology · 2018 · PMID 29335306
  not yet assessed
• Adressen ↗

  Elsevier eBooks · 2018
  not yet assessed
• Genetik in der Reproduktionsmedizin ↗

  Springer Reference Medizin · 2018
  not yet assessed
• Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A ↗

  Journal of Neurology · 2017 · PMID 28455667
  not yet assessed
• Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia ↗

  JAMA Neurology · 2017 · PMID 28558098
  not yet assessed
• High Frequency of Pathogenic Rearrangements in <i>SPG11</i> and Extensive Contribution of Mutational Hotspots and Founder Alleles ↗

  Human Mutation · 2016
  not yet assessed
• High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. ↗

  PubMed · 2016 · PMID 27071356
  not yet assessed
• Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations ↗

  Molecular Genetics & Genomic Medicine · 2016 · PMID 28116327
  not yet assessed
• Two different genetic diseases in the same patient: Coincident, concomitant, or causally related? ↗

  Movement Disorders · 2016 · PMID 26900085
  not yet assessed
• Präimplantationsdiagnostik ↗

  Medizinische Genetik · 2016
  not yet assessed
• Case Report: Patient with POLG Mutation with the Clinical Picture of a Myocerebrohepatopathy Syndrome ↗

  Neuropediatrics · 2015
  not yet assessed
• Causative mutations and putatively pathogenic variants identified in this study. ↗

  Figshare · 2015
  not yet assessed
• High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors ↗

  Molecular Genetics & Genomic Medicine · 2014 · PMID 24689081
  not yet assessed
• Präimplantationsdiagnostik ↗

  Medizinische Genetik · 2014
  not yet assessed
• Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies ↗

  PLoS ONE · 2013 · PMID 24265693
  not yet assessed
• Microdeletion 5q14.3 and anomalies of brain development ↗

  American Journal of Medical Genetics Part A · 2013 · PMID 23824879
  not yet assessed
• Genetik in der Reproduktionsmedizin ↗

  Reproduktionsmedizin · 2013
  not yet assessed
• A novel FGF8 mutation as a potential cause of holoprosencephaly, idiopathic hypogonadotropic hypogonadism, renal dysgenesis, and M. Hirschsprung ↗

  Experimental and Clinical Endocrinology & Diabetes · 2013
  not yet assessed
• Beneficial Prenatal Levodopa Therapy in Autosomal Recessive Guanosine Triphosphate Cyclohydrolase 1 Deficiency ↗

  Archives of Neurology · 2012 · PMID 22473768
  not yet assessed
• Array-CGH ↗

  Medizinische Genetik · 2012
  not yet assessed
• Präimplantationsdiagnostik ↗

  Der Gynäkologe · 2012
  not yet assessed
• Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics ↗

  Journal of Clinical Investigation · 2011 · PMID 21633164
  not yet assessed
• A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1 ↗

  European Journal of Medical Genetics · 2011 · PMID 21600320
  not yet assessed
• A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson–Golabi–Behmel syndrome ↗

  European Journal of Medical Genetics · 2011 · PMID 21362501
  not yet assessed
• Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic ↗

  Journal of Neurology · 2011 · PMID 21267591
  not yet assessed
• Bowel Obstruction in Patients with Alpers-Huttenlocher Syndrome ↗

  Neuropediatrics · 2011 · PMID 22006280
  not yet assessed
• Grundlagen der Humangenetik: Vom Stammbaum zur Genanalyse ↗

  Sprache · Stimme · Gehör · 2011
  not yet assessed
• Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

  Nature Genetics · 2010 · PMID 20890276
  96/100
• Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene ↗

  European Journal of Medical Genetics · 2010 · PMID 20382278
  not yet assessed
• Klinik und Genetik des Joubert-Syndroms ↗

  Medizinische Genetik · 2010
  not yet assessed
• Kongenitale Schäden und Erkrankungen der Cochlea sowie des Vestibularorgans ↗

  Elsevier eBooks · 2010
  not yet assessed
• Sex-chromosomal verified differentiation from human glandular stem cells to cardiomyocyte- like cells in co-culture with human myocardial biopsies ↗

  The Thoracic and Cardiovascular Surgeon · 2010
  not yet assessed
• Sex-Chromosomal verified differentiation from human glandular stem cells to cardiomyocyte- like Cells in co-culture with human myocardial biopsies. ↗

  PubMed · 2010 · PMID 24693065
  not yet assessed
• Autorinnen und Autoren ↗

  Elsevier eBooks · 2010
  not yet assessed
• Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic ↗

  Journal of Neurology · 2008 · PMID 18293026
  not yet assessed
• Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients ↗

  Brain · 2007 · PMID 18055494
  not yet assessed
• Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region ↗

  Human Mutation · 2007 · PMID 17221874
  not yet assessed
• Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata ↗

  European Journal of Medical Genetics · 2007 · PMID 17625999
  not yet assessed
• Homozygous myotonic dystrophy: Clinical findings in two patients and review of the literature ↗

  American Journal of Medical Genetics Part A · 2007 · PMID 17663477
  not yet assessed
• Genetische Beratung in der Reproduktionsmedizin ↗

  Gynäkologische Endokrinologie · 2007
  not yet assessed
• Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.

  Utrecht University Repository (Utrecht University) · 2007
  not yet assessed
• Clinical and Magnetic Resonance Imaging Characteristics of Sporadic Cerebellar Ataxia ↗

  Archives of Neurology · 2005 · PMID 15956170
  not yet assessed
• Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration ↗

  Journal of Neural Transmission · 2005 · PMID 16362839
  not yet assessed
• Spinocerebellar ataxia type 4 ↗

  Journal of Neurology · 2005 · PMID 15999233
  not yet assessed
• Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias ↗

  European Journal of Human Genetics · 2004 · PMID 15470364
  not yet assessed
• Spinocerebellar ataxia type 5 ↗

  Neurology · 2004 · PMID 14745083
  not yet assessed
• Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations ↗

  European Journal of Human Genetics · 2004 · PMID 15340363
  not yet assessed
• Aprataxin mutations are a rare cause of early onset ataxia in Germany ↗

  Journal of Neurology · 2004 · PMID 15164193
  not yet assessed
• Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease ↗

  Journal of Neurology Neurosurgery & Psychiatry · 2004 · PMID 15146023
  not yet assessed
• No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3 ↗

  Psychiatric Genetics · 2004 · PMID 15167689
  not yet assessed
• Focal dystonia as a presenting sign of spinocerebellar ataxia 17 ↗

  Movement Disorders · 2003 · PMID 14978680
  not yet assessed
• Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region ↗

  Journal of Neurology · 2003 · PMID 12796826
  not yet assessed
• Phenotypical variability of expanded alleles in the TATA-binding protein gene ↗

  Journal of Neurology · 2003 · PMID 12574945
  not yet assessed
• Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles ↗

  European Journal of Human Genetics · 2002 · PMID 11973625
  not yet assessed
• Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia ↗

  European Journal of Human Genetics · 2001 · PMID 11313753
  not yet assessed
• Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes ↗

  Acta Neurologica Scandinavica · 2001 · PMID 11240567
  not yet assessed
• R124C Mutation of the βIGH3 Gene Leads to Remarkable Phenotypic Variability in a Greek Four-Generation Family with Lattice Corneal Dystrophy Type 1 ↗

  Ophthalmologica · 2001 · PMID 11741113
  not yet assessed
• Subject Index Vol. 215, 2001 ↗

  Ophthalmologica · 2001
  not yet assessed
• Contents Vol. 215, 2001 ↗

  Ophthalmologica · 2001
  not yet assessed
• Author Index Vol. 215, 2001 ↗

  Ophthalmologica · 2001
  not yet assessed
• CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles ↗

  Human Genetics · 1997 · PMID 9272152
  not yet assessed