Alexej Knaus

发表

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

N. Brown, S. Köhler, D. Horn, 2017, bioRxiv.

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

M. Nöthen, D. Horn, S. Mundlos, 2021, medRxiv.

VarFish: comprehensive DNA variant analysis for diagnostics and research

D. Seelow, S. Mundlos, M. Spielmann, 2020, Nucleic Acids Res..

A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions

D. Horn, S. Mundlos, A. Becker, 2020, Proceedings of the National Academy of Sciences.

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

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

Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation

Alexej Knaus, U. Kornak, M. Amling, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

D. Horn, Alexej Knaus, E. Suk, 2019, BMC Medical Genomics.

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

S. Mundlos, J. Goldmann, M. Holtgrewe, 2018, Scientific Reports.

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

M. Nöthen, Alexej Knaus, P. Krawitz, 2021, NPJ genomic medicine.

Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome

Alexej Knaus, Tzung-Chien Hsieh, P. Krawitz, 2022, Human mutation.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

A. Pagnamenta, Jenny C. Taylor, M. Roselló, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

M. Nöthen, D. Horn, S. Mundlos, 2022, Nature Genetics.

Induction of Rosette-to-Lumen stage embryoids using reprogramming paradigms in ESCs

Alexej Knaus, T. Ulas, J. Schultze, 2021, Nature Communications.

Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.

Alexej Knaus, M. Jäger, P. Krawitz, 2019, The Journal of clinical investigation.

PEDIA: prioritization of exome data by image analysis

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

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

D. Horn, Alexej Knaus, F. Kortüm, 2019, American journal of human genetics.

Complement- and inflammasome-mediated autoinflammation-paroxysmal nocturnal hemoglobinuria

Alexej Knaus, P. Krawitz, Y. Kanakura, 2019, bioRxiv.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Genetics.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

J. Rosenfeld, S. Ellard, F. Alkuraya, 2019, American journal of human genetics.

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

F. Woermann, T. Meitinger, Alexej Knaus, 2019, Annals of clinical and translational neurology.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

Induction of peri-implantation stage synthetic embryos using reprogramming paradigms in ESCs

Alexej Knaus, J. Schultze, K. Baßler, 2021, bioRxiv.

A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia

S. Mundlos, M. Spielmann, B. Tüysüz, 2017, Molecular Syndromology.

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

P. Robinson, D. Horn, S. Mundlos, 2015, European journal of medical genetics.

CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph

H. Fröhlich, Alexej Knaus, N. Fleischer, 2021, medRxiv.

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

Alexej Knaus, P. Krawitz, H. Engels, 2021, npj Genomic Medicine.

Crowdsourced direct-to-consumer genomic analysis of a family quartet

Fiona G. G. Nielsen, A. Harrison, P. Robinson, 2015, BMC Genomics.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders

M. Mücke, K. Devriendt, C. Nellåker, 2023, medRxiv.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Peter N. Robinson, N. Brown, S. Köhler, 2017, Genome Medicine.

Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function

L. Feuk, P. Georgii‐Hemming, Alexej Knaus, 2017, Human mutation.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation

S. Mundlos, M. Spielmann, Alexej Knaus, 2016, American Journal of Medical Genetics. Part A.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

Lessons learned from 40 novel PIGA patients and a review of the literature

C. Depienne, A. Afenjar, A. Jezela-Stanek, 2020, Epilepsia.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

P. Robinson, D. Horn, S. Mundlos, 2016, Human mutation.