Alexander Hoischen

发表

RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data

Tomasz Stokowy, Mateusz Garbulowski, Torunn Fiskerstrand, 2016, Bioinform..

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Optical genome mapping enables constitutional chromosomal aberration detection.

Alexander Hoischen, Caroline Schluth-Bolard, Damien Sanlaville, 2021, American journal of human genetics.

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.

Christian Gilissen, Alexander Hoischen, Maartje van de Vorst, 2017, American journal of human genetics.

Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.

Fabrice de Chaumont, Marie-Claude Potier, Alexander Hoischen, 2012, Human molecular genetics.

Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans

Alexander Hoischen, Cisca Wijmenga, Ramnik J. Xavier, 2013, Nature Communications.

Long-Read Sequencing Emerging in Medical Genetics

Alexander Hoischen, Tuomo Mantere, A. Hoischen, 2019, Front. Genet..

Massively parallel sequencing of ataxia genes after array‐based enrichment

Christian Gilissen, Alexander Hoischen, Nienke Wieskamp, 2010, Human mutation.

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Christian Gilissen, Alexander Hoischen, Tomoko Tahira, 2013, Proceedings of the National Academy of Sciences.

Prioritization of neurodevelopmental disease genes by discovery of new mutations

Alexander Hoischen, Niklas Krumm, Evan E Eichler, 2014, Nature Neuroscience.

Unlocking Mendelian disease using exome sequencing

Christian Gilissen, Alexander Hoischen, Han G Brunner, 2011, Genome Biology.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

Alexander Hoischen, Gunnar Houge, Matthew S. Lebo, 2013, Proceedings of the National Academy of Sciences.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Christian Gilissen, Alexander Hoischen, Han G Brunner, 2010, American journal of human genetics.

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Christian Gilissen, Alexander Hoischen, Alex Henderson, 2010, Nature Genetics.

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2012, Human molecular genetics.

Diagnostic exome sequencing in persons with severe intellectual disability.

Christian Gilissen, Alexander Hoischen, Han G. Brunner, 2012, New England Journal of Medicine.

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

Bas E. Dutilh, Alexander Hoischen, Martijn A. Huynen, 2010, PLoS genetics.

New insights into the generation and role of de novo mutations in health and disease

Alexander Hoischen, Joris A. Veltman, A. Hoischen, 2016, Genome Biology.

A de novo paradigm for mental retardation

Christian Gilissen, Alexander Hoischen, Nienke Wieskamp, 2010, Nature Genetics.

KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas.

Alexander Hoischen, Wolfgang Wick, Gerald Seifert, 2012, Brain : a journal of neurology.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Alexander Hoischen, Arnold Munnich, Ron A Wevers, 2018, American journal of human genetics.

Next-generation genetic testing for retinitis pigmentosa

Christian Gilissen, Alexander Hoischen, Michael F. Buckley, 2012, Human mutation.

Disease gene identification strategies for exome sequencing

Christian Gilissen, Alexander Hoischen, Han G Brunner, 2012, European Journal of Human Genetics.