Publications by authors named "Cordula Knopp"

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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Cordula Knopp

Nat Genet· July 2025

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AUTS2-related syndrome: Insights from a large European cohort.
Lorenzo Loberti, Loredaria Adamo, Enrica Antolini, Giulia Casamassima, Anne Destrèe, Cordula Knopp

Genet Med· June 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Cordula Knopp

Nat Genet· June 2025

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Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Cordula Knopp

medRxiv· May 2025

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Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.
Luise Kessler, Jeremias Krause, Florian Kraft, Asmaa K Amin, Gyorgy Fekete, Cordula Knopp

Clin Genet· March 2025

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Brain malformations and seizures by impaired chaperonin function of TRiC.
Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt, Cordula Knopp

Science· November 2024

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Cordula Knopp

medRxiv· October 2024

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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Cordula Knopp

Nat Genet· August 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Cordula Knopp

Am J Hum Genet· June 2024

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Cordula Knopp

Res Sq· June 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Cordula Knopp

Am J Hum Genet· April 2024

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Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, Christine Bartsch, Barbara Fritz, Cordula Knopp

Orphanet J Rare Dis· March 2024

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Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, Sugirtahn Sivalingam, Ange-Line Bruel, Cordula Knopp

Hum Genet· January 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Cordula Knopp

Am J Hum Genet· January 2024

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Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S Zaki, Cordula Knopp

Genome Med· November 2023

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Germline mutation causes a multisystem chaperonopathy.
Florian Erger, Rajindra P Aryal, Björn Reusch, Yasuyuki Matsumoto, Robert Meyer, Cordula Knopp

Proc Natl Acad Sci U S A· May 2023

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Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.
Cordula Knopp, Robin Steiner, Eva Lausberg, Caroline von Hoegen, Sabine Busse

Dtsch Arztebl Int· December 2022

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Adult human kidney organoids originate from CD24 cells and represent an advanced model for adult polycystic kidney disease.
Yaoxian Xu, Christoph Kuppe, Javier Perales-Patón, Sikander Hayat, Jennifer Kranz, Cordula Knopp

Nat Genet· November 2022

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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Natja Haag, Ene-Choo Tan, Matthias Begemann, Lars Buschmann, Florian Kraft, Cordula Knopp

Eur J Hum Genet· November 2021

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Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
Thomas Eggermann, Johanna Brück, Cordula Knopp, György Fekete, Christian Kratz

J Mol Med (Berl)· October 2020

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Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Carola Hedberg-Oldfors, Robert Meyer, Kay Nolte, Yassir Abdul Rahim, Christopher Lindberg, Cordula Knopp

Brain· August 2020

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Germline Mutations Predispose to Pediatric Medulloblastoma.
Matthias Begemann, Sebastian M Waszak, Giles W Robinson, Natalie Jäger, Tanvi Sharma, Cordula Knopp

J Clin Oncol· January 2020

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DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Gergely Karsai, Florian Kraft, Natja Haag, G Christoph Korenke, Benjamin Hänisch, Cordula Knopp

J Clin Invest· March 2019

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Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
Nadia Ortiz Bruechle, Peter Steuernagel, Klaus Zerres, Ingo Kurth, Thomas Eggermann, Cordula Knopp

Pediatr Nephrol· October 2017

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Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Gilles Morin, Nadina Ortiz Bruechle, Amrathlal Rabbind Singh, Cordula Knopp, Guillaume Jedraszak

Hum Mutat· October 2014

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