List of works - Alexander Hoischen

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

scientific article

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

scientific article

A de novo paradigm for mental retardation

scientific article published on 14 November 2010

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

scientific article published on 5 December 2017

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

scientific article

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

scientific article

A novel marine nitrite-oxidizing Nitrospira species from Dutch coastal North Sea water

scientific article published on 18 March 2013

A phenotype map for 14q32.3 terminal deletions.

scientific article published on 24 February 2012

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

scientific article published on 27 May 2016

Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing.

scientific article

An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation

scientific article published in August 2010

Angiocentric glioma: report of clinico-pathologic and genetic findings in 8 cases

scientific article

Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.

scientific article published on 15 May 2009

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

scientific article

BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

scientific article

BRCA Testing by Single-Molecule Molecular Inversion Probes

scientific article

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

scientific journal article

Cantú syndrome is caused by mutations in ABCC9.

scientific article

Cantú syndrome resulting from activating mutation in the KCNJ8 gene

scientific article

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

scientific article published on 24 August 2016

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

scientific article

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

scientific article published on 30 August 2013

Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISH.

scientific article

Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment

scientific article published on 26 June 2015

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

scientific article

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

scientific article published on 24 February 2016

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

scientific article published on 24 September 2016

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

scientific article published on January 2017

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

scientific article

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

scientific article

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

scientific article

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

scientific article

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

scientific article

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

article by Joep de Ligt et al published 15 November 2012 in The New England Journal of Medicine

Disease gene identification strategies for exome sequencing

scientific article

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

scientific article published on March 2016

Early presentation of cystic kidneys in a family with a homozygousINVSmutation

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

scientific article (publication date: May 2013)

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

scientific article

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

scientific article published on March 2014

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.

scientific article published on 3 June 2013

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

scientific article

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment

scientific article

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

scientific article published on 17 June 2019

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

scientific article

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions ⬇️

scientific article published on January 10, 2011

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

scientific article published on January 2013

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations

scientific article

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

scientific article

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

scientific article published on 5 April 2012

Genome sequencing identifies major causes of severe intellectual disability

scientific article

Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization

scientific article

Human TLR10 is an anti-inflammatory pattern-recognition receptor

scientific article

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy

scientific article published on 7 April 2016

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

scientific article published on 25 May 2021

Insufficient evidence for a role of SERPINF1 in otosclerosis

scientific article published on 09 April 2019

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

scientific article

LRP5 variants may contribute to ADPKD

scientific article

Long-Read Sequencing Emerging in Medical Genetics

article

Long-read trio sequencing of individuals with unsolved intellectual disability

scientific article published on 30 November 2020

MST1R mutation as a genetic cause of Lady Windermere syndrome

scientific article published on 18 January 2017

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization

scientific article published on 5 July 2010

Massively parallel sequencing of ataxia genes after array-based enrichment

scientific article

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

scientific article published in May 2014

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

scientific article published on 29 December 2016

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

scientific journal article

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

scientific article

Mutations in MED12 cause X-linked Ohdo syndrome

scientific article published on 7 February 2013

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

scientific article published on 19 August 2013

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

scientific article (publication date: 4 September 2014)

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

scientific article published on 20 January 2017

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

scientific article published on 28 November 2016

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives

scientific article published on 05 March 2021

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

scientific article

Next-generation genetic testing for retinitis pigmentosa

scientific article

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

scientific article

Novel PI3Kγ mutation in a 44-year-old man with chronic infections and chronic pelvic pain

scientific article

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

scientific article published on 10 March 2016

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

scientific article published on 27 March 2017

P45: Comprehensive genomic analysis of desmoplastic medulloblastomas reveals novel amplified genes and supports a monoclonal origin of the different histologic components

article

Parent-of-origin-specific signatures of de novo mutations

scientific article published on 20 June 2016

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

scientific article published on 2 July 2015

Primary immunodeficiencies in cytosolic pattern-recognition receptor pathways: Toward host-directed treatment strategies

scientific article published on 08 July 2020

Prioritization of neurodevelopmental disease genes by discovery of new mutations

scientific article

Progressive multifocal leukoencephalopathy in an immunocompetent patient

scientific article published on 8 January 2016

Quantification of differential gene expression by multiplexed targeted resequencing of cDNA.

scientific article published on 5 May 2017

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

scientific article

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

scientific article

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

scientific article published on 18 September 2014

Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

scientific article

Rosetted glioneuronal tumor of the spine with overtly anaplastic histological features

scientific article published on 6 March 2009

STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis

scientific article

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

scientific article

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

scientific article

Shotgun metagenomic data reveals significant abundance but low diversity of "Candidatus Scalindua" marine anammox bacteria in the Arabian Sea oxygen minimum zone

scientific article

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.

scientific article published on 4 March 2015

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

scientific article published on 31 December 2015

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

scientific article

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

scientific article published on 10 February 2015

Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation

scientific article published on 4 October 2006

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

scientific journal article

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

scientific article published on 19 June 2017

Unlocking Mendelian disease using exome sequencing

scientific article published on 14 September 2011

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

scientific article published on 6 September 2017

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

scientific article published on 11 August 2017

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

scientific article

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.

scientific article published on 27 September 2016

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

scientific article (publication date: 8 April 2014)

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

scientific article

List of works by Alexander Hoischen

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

A de novo paradigm for mental retardation

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

A novel marine nitrite-oxidizing Nitrospira species from Dutch coastal North Sea water

A phenotype map for 14q32.3 terminal deletions.

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

Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing.

An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation

Angiocentric glioma: report of clinico-pathologic and genetic findings in 8 cases

Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

BRCA Testing by Single-Molecule Molecular Inversion Probes

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Cantú syndrome is caused by mutations in ABCC9.

Cantú syndrome resulting from activating mutation in the KCNJ8 gene

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISH.

Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Diagnostic exome sequencing in persons with severe intellectual disability

Disease gene identification strategies for exome sequencing

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Early presentation of cystic kidneys in a family with a homozygousINVSmutation

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions ⬇️

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

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations

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

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

Genome sequencing identifies major causes of severe intellectual disability

Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization

Human TLR10 is an anti-inflammatory pattern-recognition receptor

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

Insufficient evidence for a role of SERPINF1 in otosclerosis

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

LRP5 variants may contribute to ADPKD

Long-Read Sequencing Emerging in Medical Genetics

Long-read trio sequencing of individuals with unsolved intellectual disability

MST1R mutation as a genetic cause of Lady Windermere syndrome

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization

Massively parallel sequencing of ataxia genes after array-based enrichment

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

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

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Mutations in MED12 cause X-linked Ohdo syndrome

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

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

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

Next-generation genetic testing for retinitis pigmentosa