Publications by authors named "Christian Netzer"

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Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans.
Sarah W Curtis, Cinderella Yang, Alba Sanchis-Juan, Katherine Singleton, Terri H Beaty, Christian Netzer

Hum Mol Genet· December 2025

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DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE CAUSE A NEURODEVELOPMENTAL DISORDER.
Wallid Deb, Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Christian Netzer

medRxiv· December 2025

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Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.
Mert Karakaya, Iman Ragab, Vera Riehmer, Florian Erger, Nihal Hussien Aly, Christian Netzer

Eur J Hum Genet· October 2025

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c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.
Sivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, Abdel Salam Abu-Libdeh, Clara Velmans, Christian Netzer

J Med Genet· June 2025

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ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.
Mert Karakaya, Iman Ragab, Vera Riehmer, Florian Erger, Nihal Hussien Aly, Christian Netzer

Eur J Hum Genet· March 2025

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Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.
Periyasamy Radhakrishnan, Neha Quadri, Florian Erger, Nico Fuhrmann, Otilia-Maria Geist, Christian Netzer

Clin Genet· March 2025

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Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.
Mohammad Sadegh Shams Nosrati, Alireza Doustmohammadi, Mariasavina Severino, Ferruccio Romano, Mahdi Zafari, Christian Netzer

Clin Genet· January 2025

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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, Christian Netzer

medRxiv· October 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, Christian Netzer

Res Sq· June 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, Christian Netzer

Hum Genet· January 2024

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Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in .
Antonia Howaldt, Sandrine Lenglez, Clara Velmans, Anne Maria Schultheis, Thomas Clahsen, Christian Netzer

Ophthalmol Sci· December 2023

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Disconnected Cardiac Autonomic Nerves in Genetic Ganglionic Acetylcholine Receptor Alpha-3 Subunit Deficiency.
Karsten Heusser, Florian Erger, Ulrich Ebner, Barbara Namer, Graeme Eisenhofer, Christian Netzer

Hypertension· August 2023

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TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.
Julia Etich, Oliver Semler, Nicola L Stevenson, Alice Stephan, Roberta Besio, Christian Netzer

EMBO Mol Med· July 2023

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O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-Them, Antonio Vitobello, Christian Netzer

J Med Genet· July 2022

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Carrier testing for autosomal recessive disorders: a look at current practice in Germany.
Christian Netzer, Clara Velmans, Florian Erger, Julia Schreml

Med Genet· April 2021

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Genetic counseling in times of genomic analyses - current aspects of common topics in human genetics practice.
Susanne Morlot, Christian Netzer

Med Genet· April 2021

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Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
Fleur S van Dijk, Oliver Semler, Julia Etich, Anna Köhler, Juan A Jimenez-Estrada, Christian Netzer

Am J Hum Genet· November 2020

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Osteogenesis imperfecta-pathophysiology and therapeutic options.
Julia Etich, Lennart Leßmeier, Mirko Rehberg, Helge Sill, Frank Zaucke, Christian Netzer

Mol Cell Pediatr· August 2020

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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Shahida Moosa, Guilherme L Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza-Meireles, Christian Netzer

Am J Hum Genet· October 2019

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Christian Netzer

Genet Med· September 2019

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Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohort.
Heike Hoyer-Kuhn, Mirko Rehberg, Christian Netzer, Eckhard Schoenau, Oliver Semler

Orphanet J Rare Dis· September 2019

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Christian Netzer

Genet Med· June 2019

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Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.
Florian Erger, Christian P Schaaf, Christian Netzer

Mol Cell Probes· June 2019

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The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Felix Marbach, Cecilie F Rustad, Angelika Riess, Dejan Đukić, Tzung-Chien Hsieh, Christian Netzer

Am J Hum Genet· April 2019

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Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses.
Florian Erger, Karin Burau, Michael Elsässer, Katharina Zimmermann, Ute Moog, Christian Netzer

Eur J Hum Genet· September 2018

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