Christian Netzer

Institute of Human Genetics — Poland

Biochemistry, Genetics and Molecular Biology · Life Sciences

29h-index3.1kcitations63works1.02yr avg
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Research Topics

Connective tissue disorders research(23), Bone and Dental Protein Studies(11), Ethics and Legal Issues in Pediatric Healthcare(8), Bone health and treatments(7), Prenatal Screening and Diagnostics(6)

Publications63 total

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDER
2025Open Access
Novel Frameshift Mutation in ZEB1 in a Family with a Severe Form of Posterior Polymorphous Corneal Dystrophy (PPCD)
Preprints.org·2024Open Access
Novel <i>KIF26A</i> variants associated with pediatric intestinal pseudo‐obstruction ( <scp>PIPO</scp> ) and brain developmental defects
Clinical Genetics·2024· 4 citedOpen Access
Author response for "Novel &lt;i&gt;KIF26A&lt;/i&gt; variants associated with pediatric intestinal pseudo‐obstruction (&lt;scp&gt;PIPO&lt;/scp&gt;) and brain developmental defects"
2024
Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB
Ophthalmology Science·2023· 7 citedOpen Access
<scp>TAPT1</scp> —at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta
EMBO Molecular Medicine·2023· 7 citedOpen Access
P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases
Genetics in Medicine Open·2023· 7 citedOpen Access
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
The American Journal of Human Genetics·2020· 63 citedOpen Access
Site-specificity of bone quality in a patient with osteogenesis imperfecta (OI) type V undergoing total hip arthroplasty
Bone Reports·2020Open Access
Osteogenesis imperfecta—pathophysiology and therapeutic options
Molecular and Cellular Pediatrics·2020· 80 citedOpen Access
Osteogenesis imperfecta – Pathophysiologie und aktuelle Behandlungsstrategien
Medizinische Genetik·2019· 3 citedOpen Access
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
The American Journal of Human Genetics·2019· 63 citedOpen Access
Individualized treatment with denosumab in children with osteogenesis imperfecta – follow up of a trial cohort
Orphanet Journal of Rare Diseases·2019· 33 citedOpen Access
Einführung zum Thema: Erbliche Nierenerkrankungen
Medizinische Genetik·2018Open Access
Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia
Journal of Lipid Research·2018· 24 citedOpen Access
<i>CRTAP</i> variants in early‐onset osteoporosis and recurrent fractures
American Journal of Medical Genetics Part A·2016· 2 cited
Safety and efficacy of denosumab in children with osteogenesis imperfect--a first prospective trial.
PubMed·2016· 119 citedOpen Access
Mutations in <i><scp>SEC24D</scp></i> cause autosomal recessive osteogenesis imperfecta
Clinical Genetics·2015· 33 cited
Osteogenesis Imperfecta: A Pilot Trial on Treatment with the RANKL-Antibody Denosumab
54th Annual ESPE·2015
Osteogenesis imperfecta: a pilot trial on treatment with the RANKL-antibody denosumab
Bone Abstracts·2015· 2 cited
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Frequent Co-authors

Oliver Semler(19), Bernd Wollnik(10), Heike Hoyer‐Kuhn(10), Eckhard Schöenau(8), Jutta Becker(7), Peter Nürnberg(7), Dagmar Schmitz(7), Wolfram Henn(7), Christian Kubisch(7), Jan Freudenberg(6), Lutz Garbes(5), Mirko Rehberg(5), Unda Todt(5), Axel Heinze(5), Ingrid Goebel(5), Friederike Koerber(4), Katharina Zimmermann(4), Katharina Keupp(4), Gökhan Yigit(4), Peer Eysel(4)