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Browsing publications by Professor Joris Veltman.

Newcastle AuthorsTitleYearFull text
Hannah Smith
Francesco Kumara Mastrorosa
Dr Giles Holt
Dr Brendan Houston
Dr Bilal Alobaidi
et al.
A de novo paradigm for male infertility2022
Dr Giles Holt
Dr Bilal Alobaidi
Lois Batty
Professor Joris Veltman
De novo mutations in children born after medical assisted reproduction2022
Dr Brendan Houston
Dr Miguel Garcia Dos Santos Xavier
Professor Joris Veltman
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships2021
Dr Brendan Houston
Francesco Kumara Mastrorosa
Professor Joris Veltman
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility2021
Professor Joris Veltman
Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity2021
Professor Joris Veltman
Disease gene discovery in male infertility: Past, Present and Future2021
Dr Brendan Houston
Ludmila Voložonoka
Francesco Kumara Mastrorosa
Dr Giles Holt
Dr Bilal Alobaidi
et al.
Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders2021
Ludmila Voložonoka
Professor Joris Veltman
Lack of evidence for a role of PIWIL1 variants in human male infertility2021
Professor Joris Veltman
Variant PNLDC1, Defective piRNA Processing, and Azoospermia2021
Dr Miguel Garcia Dos Santos Xavier
Professor Joris Veltman
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure2021
Professor Joris Veltman
Aberrant expressions and variant screening of SEMA3D in indonesian Hirschsprung patients2020
James Heald
Kevin McEleny
Dr Miguel Garcia Dos Santos Xavier
Professor Joris Veltman
Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility2020
Professor Joris Veltman
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia2020
Professor Joris Veltman
Mutations in the V‐ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease2020
Dr Brendan Houston
Richard Burke
Professor Joris Veltman
Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development2020
Professor Joris Veltman
A systematic review and standardized clinical validity assessment of male infertility genes2019
Professor Joris Veltman
A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis2019
Professor Joris Veltman
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms2019
Professor Joris Veltman
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies2019
Professor Joris Veltman
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains2019
Professor Joris Veltman
Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD22019
Professor Joris Veltman
The role of de novo mutations in adult-onset neurodegenerative disorders2019
Professor Joris Veltman
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency2018
Professor Joris Veltman
Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence2018
Professor Joris Veltman
Germline de Novo Mutation Clusters Arise during Oocyte Aging in Genomic Regions with High Double-Strand-Break Incidence2018
Professor Joris Veltman
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder2018
Professor Joris Veltman
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology2017
Professor Joris Veltman
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics2017
Professor Joris Veltman
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy2017
Professor Joris Veltman
Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification2017
Professor Joris Veltman
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies2017
Professor Joris Veltman
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes2017
Professor Joris Veltman
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life2017
Professor Joris Veltman
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia2017
Professor Joris Veltman
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation2016
Professor Joris Veltman
Genetic studies in intellectual disability and related disorders2016
Professor Joris Veltman
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability2016
Professor Joris Veltman
New insights into the generation and role of de novo mutations in health and disease2016
Professor Joris Veltman
Parent-of-origin-specific signatures of de novo mutations2016
Professor Joris Veltman
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation2016
Professor Joris Veltman
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation2015
Professor Joris Veltman
Genome sequencing identifies major causes of severe intellectual disability2014
Professor Joris Veltman
Mobster: accurate detection of mobile element insertions in next generation sequencing data2014
Professor Andrew Gennery
Professor Joris Veltman
Dr Desa Lilic
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant Chronic Mucocutaneous Candidiasis2011
Dr Desa Lilic
Professor Joris Veltman
STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis2011
Professor Hanns Lochmuller
Professor Joris Veltman
Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia2010
Dr Arjan De Brouwer
Professor Joris Veltman
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH2006