Author details

Full Name

Patrick Nitschke

Affiliation

ORCID

Career Start Year

1995

Papers

157

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37353886	Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.		2023
36349561	Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.	Brain	2023
37344844	A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.		2023
36579772	Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia.		2023
36952633	A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.		2023
37456840	VNtyper enables accurate alignment-free genotyping of coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.		2023
36803301	Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.		2023
37230224	A wave of deep intronic mutations in X-linked Alport syndrome.		2023
35717442	Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity.	Nat Commun	2022
35390279	Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.	American Journal of Human Genetics	2022
35388186	16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.	European Journal of Human Genetics	2022
35642643	Human C-terminal CUBNï»¿ï»¿ variants associate with chronic proteinuria and normal renal function.	J Clin Invest	2022
35426486	Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.	Birth Defects Research	2022
35995809	iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.	Scientific Reports	2022
35732670	Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect.	Nature Communications	2022
36059085	A new species of Geophagus (Teleostei: Cichlidae): Naming a cichlid species widely known in the aquarium hobby as 'Geophagus sp. Tapajos red head'.	Journal of Fish Biology	2022
34413298	Somatic genetic rescue of a germline ribosome assembly defect.	Nature Communications	2021
34019647	CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.	Nucleic Acids Research	2021
33692749	High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.	Front Endocrinol (Lausanne)	2021
34114225	Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non-compaction, and a solitary median maxillary central incisor.	Clinical Genetics	2021
34199217	Severe Phenotype in Patients with Large Deletions of <i>NF1</i>.	Cancers (Basel)	2021
33497358	Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.	J Clin Invest	2021
32531373	Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.	J Allergy Clin Immunol	2021
34721418	A Humanized Mouse Strain That Develops Spontaneously Immune-Mediated Diabetes.	Frontiers in Immunology	2021
32805706	First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.	European Journal of Endocrinology	2020
32376980	Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.	Genet Med	2020
32142795	Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa.	J Invest Dermatol	2020
31682841	A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia.	J Invest Dermatol	2020
32356861	Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect.	Blood	2020
31826245	Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation.	Blood	2020
31613795	Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.	J Clin Invest	2020
32334381	Increased diagnostic yield in complex dystonia through exome sequencing.	Parkinsonism and Related Disorders	2020
31922365	Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.	Movement Disorders	2020
32600977	Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.	European Journal of Paediatric Neurology	2020
33257696	MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.	Nat Commun	2020
31151987	EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.	Blood	2019
30429576	Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.	Nat Genet	2019
30321533	Mutations in PERP Cause Dominant and Recessive Keratoderma.	J Invest Dermatol	2019
31042281	Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.	Human Molecular Genetics	2019
31004414	A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.	American Journal of Medical Genetics, Part A	2019
29768408	A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.	PLoS Genet	2018
30121372	Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.	European Journal of Medical Genetics	2018
30446499	TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.	EMBO Molecular Medicine	2018
29878067	De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.	Brain	2018
29967002	Humanized Mouse Model to Study Type 1 Diabetes.		2018
29913018	Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.	JAMA Neurology	2018
29951184	Role of in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders.	Molecular Autism	2018
30374066	Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.	Nat Genet	2018
29995221	A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12RÎ²1 Deficiency.	Journal of Clinical Immunology	2018
30365502	Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.	PLoS Genet	2018