Publications by Professor Joris Veltman - ePrints

Browsing publications by Professor Joris Veltman.

Newcastle Authors	Title	Year
Professor Joris Veltman	Current global status of male reproductive health	2024
Dr Brendan Houston Professor Joris Veltman	Frequency, morbidity and equity — the case for increased research on male fertility	2024
Professor Joris Veltman	Improved phenotypic classification of male infertility to promote discovery of genetic causes	2024
Professor Joris Veltman	Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility	2024
Professor Joris Veltman	Why geneticists should care about male infertility	2024
Professor Joris Veltman	De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders	2023
Dr Giles Holt Dr Bilal Alobaidi Lois Batty Professor Joris Veltman	De novo mutations in children born after medical assisted reproduction	2022
Hannah Smith Francesco Kumara Mastrorosa Dr Giles Holt Dr Brendan Houston Dr Bilal Alobaidi et al.	A de novo paradigm for male infertility	2022
Dr Miguel Garcia Dos Santos Xavier Professor Joris Veltman	Diverse monogenic subforms of human spermatogenic failure	2022
Professor Joris Veltman	Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure	2022
Dr Giles Holt Lois Batty Dr Bilal Alobaidi Hannah Smith Professor Joris Veltman et al.	Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach	2022
Hannah Smith Dr Bilal Alobaidi Dr Harsh Sheth Professor Joris Veltman	Screening by single-molecule molecular inversion probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males	2022
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 relationships	2021
Dr Brendan Houston Francesco Kumara Mastrorosa Professor Joris Veltman	Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility	2021
Professor Joris Veltman	Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity	2021
Professor Joris Veltman	Disease gene discovery in male infertility: Past, Present and Future	2021
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 disorders	2021
Ludmila Voložonoka Professor Joris Veltman	Lack of evidence for a role of PIWIL1 variants in human male infertility	2021
Professor Joris Veltman	Variant PNLDC1, Defective piRNA Processing, and Azoospermia	2021
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 failure	2021
Professor Joris Veltman	Aberrant expressions and variant screening of SEMA3D in indonesian Hirschsprung patients	2020
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 infertility	2020
Professor Joris Veltman	Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia	2020
Professor Joris Veltman	Mutations in the V‐ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease	2020
Dr Brendan Houston Richard Burke Professor Joris Veltman	Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development	2020
Professor Joris Veltman	A systematic review and standardized clinical validity assessment of male infertility genes	2019
Professor Joris Veltman	A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis	2019
Professor Joris Veltman	De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms	2019
Professor Joris Veltman	Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies	2019
Professor Joris Veltman	MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains	2019
Professor Joris Veltman	Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2	2019
Professor Joris Veltman	The role of de novo mutations in adult-onset neurodegenerative disorders	2019
Professor Joris Veltman	A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency	2018
Professor Joris Veltman	Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence	2018
Professor Joris Veltman	Germline de Novo Mutation Clusters Arise during Oocyte Aging in Genomic Regions with High Double-Strand-Break Incidence	2018
Professor Joris Veltman	Pathogenic variants in glutamyl-tRNA^Gln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder	2018
Professor Joris Veltman	A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology	2017
Professor Joris Veltman	Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics	2017
Professor Joris Veltman	Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy	2017
Professor Joris Veltman	Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification	2017
Professor Joris Veltman	Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies	2017
Professor Joris Veltman	Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes	2017
Professor Joris Veltman	Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life	2017
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 oligozoospermia	2017
Professor Joris Veltman	ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation	2016
Professor Joris Veltman	Genetic studies in intellectual disability and related disorders	2016
Professor Joris Veltman	Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability	2016
Professor Joris Veltman	New insights into the generation and role of de novo mutations in health and disease	2016
Professor Joris Veltman	Parent-of-origin-specific signatures of de novo mutations	2016
Professor Joris Veltman	TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation	2016
Professor Joris Veltman	Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation	2015
Professor Joris Veltman	Genome sequencing identifies major causes of severe intellectual disability	2014
Professor Joris Veltman	Mobster: accurate detection of mobile element insertions in next generation sequencing data	2014
Professor Andrew Gennery Professor Joris Veltman Dr Desa Lilic	STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant Chronic Mucocutaneous Candidiasis	2011
Dr Desa Lilic Professor Joris Veltman	STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis	2011
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 Ataxia	2010
Dr Arjan De Brouwer Professor Joris Veltman	Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH	2006