Uwe Kornak

发表

Next generation sequencing and genome editing, game changers in the field of skeletal research

Uwe Kornak, 2017 .

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

PEDIA: Prioritization of Exome Data by Image Analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018 .

VarFish - Collaborative and Comprehensive Variant Analysis for Diagnosis and Research

Stefan Mundlos, Manuel Holtgrewe, Uwe Kornak, 2020, bioRxiv.

Full-field characterisation of mechanical strain in the Flexercell and stimulation optimization study

Georg N. Duda, Stefan Mundlos, Uwe Kornak, 2006 .

Key features and clinical variability of COG6-CDG.

Gert Matthijs, Uwe Kornak, Hubertus C M T Prinsen, 2015, Molecular genetics and metabolism.

Examining tissue composition, whole-bone morphology and mechanical behavior of GorabPrx1 mice tibiae: A mouse model of premature aging.

Sara Checa, Uwe Kornak, Haisheng Yang, 2017, Journal of biomechanics.

Mutations in PYCR1 cause cutis laxa with progeroid features

Peter Nürnberg, Stefan Mundlos, Barry Merriman, 2009, Nature Genetics.

Inactivation of anoctamin‐6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues

Uwe Kornak, Andrea Vortkamp, U. Kornak, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Na Zhu, 2014, American journal of human genetics.

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Gert Matthijs, Dirk Lefeber, Peter Nürnberg, 2008, Nature Genetics.

Sost deficiency led to a greater cortical bone formation response to mechanical loading and altered gene expression

Sara Checa, Georg N. Duda, Uwe Kornak, 2017, Scientific Reports.

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Damian Smedley, Yves Moreau, Melissa Haendel, 2014, Science Translational Medicine.

Cannabinoid receptor type 2 gene is associated with human osteoporosis.

Jan Freudenberg, Andreas Zimmer, Uwe Kornak, 2005, Human molecular genetics.

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities

Ulrich Seidel, Uwe Kornak, Diana Mitter, 2017, American journal of medical genetics. Part A.

Lysosomal Pathology and Osteopetrosis upon Loss of H+-Driven Lysosomal Cl– Accumulation

Jörg Rademann, Thomas J. Jentsch, Uwe Kornak, 2010, Science.