Johanna C Herkert - University Medical Center Groningen, University of Groningen

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论文共 71 篇作者统计合作学者相似作者

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HUMAN GENETICS AND GENOMICS ADVANCESno. 1 (2025)

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F55. LOSS-OF-FUNCTION VARIANTS IN CUL3 CAUSE A SYNDROMIC NEURODEVELOPMENTAL DISORDER

Tianyun Wang,Patrick Blackburn,Frédéric Ebstein,Tzung-Chien Hsieh,Marialetizia Motta,Francesca Clementina Radio,Johanna Herkert,Tuula Rinne,Elke Krüger,Stéphane Bézieau,Hannah Klinkhammer,Peter Michael Krawitz,Evan Eichler,Marco Tartaglia,Sébastien Küry

European Neuropsychopharmacology (2024): 235

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Novel Variants in the SOX11 Gene: Additional Evidence for the Involvement of SOX11 in Hypogonadotropic Hypogonadism

Tarsis Vieira, Beatriz Schincariol-Manhe, Érica Campagnolo,Samira Spineli-Silva,Nicole de Leeuw, Gabriela Correia-Costa,André Pessoa,Carolina de Souza,Cathy Stevens, Poupak Javaher, Helena Scallet,Julia Mohr,Saskia Biskup,Johanna Herkert,Rolph Pfundt,Lakshmi Mehta, Aisha Rekab, Houda Elloumi,Andréa Maciel-Guerra,Vera Lucia Gil da Silva Lopes, Ana dos Santos,May Sanyoura

openalex（2024）

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Loss-of-function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Tianyun Wang,Patrick Blackburn,Frederic Ebstein,Tzung-Chien Hsieh,Marialetizia Motta,Francesca Clementina Radio,Johanna Herkert,Tuula Rinne,Elke Krueger,Stephane Bezieau,Hannah Klinkhammer,Peter Michael Krawitz,Evan Eichler,Marco Tartaglia,Sebastien Kuery

EUROPEAN NEUROPSYCHOPHARMACOLOGY (2024): 235-235

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Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies

Mark Jansen,Remco de Brouwer,Fahima Hassanzada,Angela E. Schoemaker,Amand F. Schmidt, Maria D. Kooijman-Reumerman,Valentina Bracun,Martijn G. Slieker,Dennis Dooijes,Alexa M. C. Vermeer,Arthur A. M. Wilde,Ahmad S. Amin,Ronald H. Lekanne Deprez,Johanna C. Herkert,Imke Christiaans,Rudolf A. de Boer,Jan D. H. Jongbloed,J. Peter van Tintelen,Folkert W. Asselbergs,Annette F. Baas

JACC-HEART FAILUREno. 1 (2024): 134-147

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Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results from a Dutch Multicenter Cohort Study

Mark Jansen,Remco de Brouwer,Fahima Hassanzada, Angela E. Schoemaker,Amand F. Schmidt, Maria D. Kooijman-Reumerman,Valentina Bracun, Martijn G. Slieker,Dennis Dooijes,Alexa M.C. Vermeer,Arthur A.M. Wilde,Ahmad S. Amin,Ronald H. Lekanne Deprez,Johanna C. Herkert,Imke Christiaans,Rudolf A. de Boer,Jan D.H. Jongbloed,J. Peter van Tintelen,Folkert W. Asselbergs,Annette F. Baas

JACC Heart Failure（2024）

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Clinical, Genetic and Molecular Delineation of KPTNrelated Disorder in Humans and Mice Identifies Mtor Inhibition As a Candidate Therapeutic Approach

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 59-60

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Novel Variants in the SOX11 Gene: Clinical Description of Seven New Patients

Beatriz Schincariol-Manhe, Erica Campagnolo,Samira Spineli-Silva,Nicole de Leeuw,Gabriela Roldao Correia-Costa,Andre Pessoa, Carolina Fischinger Moura de Souza,Cathy Stevens, Poupak Javaher,Helena Fabbri Scallet,Julia Mohr,Saskia Biskup,Johanna C. Herkert,Rolph Pfundt,Lakshmi Mehta, Aisha Rekab,Houda Zghal Elloumi,May Sanyoura,Andrea Trevas Maciel-Guerra,Vera Lucia Gil-da-Silva-Lopes, Ana Mondadori dos Santos,Tarsis Paiva Vieira

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights into Phenotypic Presentation and Variant Spectrum

Laura A. Grutters,Jolien S. Klein Wassink-Ruiter,Trijnie Dijkhuizen,Hessel P. Nijenhuis,Jan D. H. Jongbloed,Johanna C. Herkert

Circulation Genomic and Precision Medicine（2023）

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CLINICAL GENETICS（2023）

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