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Author Details

Uwe Kornak
Institute of Human Genetics, University Medical Center Gottingen
1994
149
42
PMIDPaper TitleJournal TitlePublished Year
36513280CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis.Bone2023
37582359AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.Am J Hum Genet2023
37968388Single-cell, whole-embryo phenotyping of mammalian developmental disorders.Nature2023
36947595The enhancer landscape predetermines the skeletal regeneration capacity of stromal cells.Sci Transl Med2023
36853234Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.Genet Med2023
36514868Dissecting the influence of cellular senescence on cell mechanics and extracellular matrix formation in vitro.Aging Cell2023
34379057Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.J Med Genet2022
35670808Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.Genet Med2022
35689455Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).J Bone Miner Res2022
35751599ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise.Bioinformatics2022
35962790Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.Genet Med2022
35949115Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.J Bone Miner Res2022
35064218Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.Nat Genet2022
35276006Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.J Clin Endocrinol Metab2022
32956624CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells for Advanced Adoptive Immunotherapy in Transplant Recipients.Mol Ther2021
33716164Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations.Bone2021
33905594Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis.J Bone Miner Res2021
33596325Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.J Bone Miner Res2021
34436670Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.Hum Genet2021
34252603Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.Bone2021
33981699Chondrocytes From Osteoarthritic and Chondrocalcinosis Cartilage Represent Different Phenotypes.Front Cell Dev Biol2021
33118644Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP).J Bone Miner Res2021
33402532A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.Proc Natl Acad Sci U S A2021
33180365TFE3 activation in a TSC1-altered malignant PEComa: challenging the dichotomy of the underlying pathogenic mechanisms.J Pathol Clin Res2021
33320377Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.J Inherit Metab Dis2021
32860237Premature aging disorders: A clinical and genetic compendium.Clin Genet2021
32455153Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene.Bone Rep2020
35186396Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children.J Pediatr Genet2020
31958497Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.Osteoarthritis Cartilage2020
31805212Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.J Bone Miner Res2020
31923704Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.Bone2020
31678489Mice lacking plastin-3 display a specific defect of cortical bone acquisition.Bone2020
32748437Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.Clin Genet2020
32763190Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.Am J Hum Genet2020
32592542Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.Am J Med Genet A2020
32671420Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome.Calcif Tissue Int2020
32338743VarFish: comprehensive DNA variant analysis for diagnostics and research.Nucleic Acids Res2020
32119750Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation.J Bone Miner Res2020
30642251GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution.BMC Genomics2019
31805661Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences.Int J Mol Sci2019
30151622A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee.Osteoporos Int2019
30201961Correction: Arterial tortuosity syndrome: 40 new families and literature review.Genet Med2019
31353024Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.Am J Hum Genet2019
31285555Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.J Hum Genet2019
31015584SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.J Hum Genet2019
30763735Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis.Stem Cell Res2019
31164752PEDIA: prioritization of exome data by image analysis.Genet Med2019
30371979Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.Hum Mutat2019
30537558Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.Bone2019
28916840A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.Osteoporos Int2018
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Marten J??ger
Charite Universitatsmedizin Berlin
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Tim M Strom
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Amira Masri
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Release 1.2