Publications by authors named "Patrick Nitschke"

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Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa-Traoré

Clin Genet· February 2026

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Expanding PIGM-related disorders to coding mutations.
Romain Nicolle, Laura Russell, Véronique Abadie, Patrick Nitschke, Christine Bole

J Eur Acad Dermatol Venereol· October 2025

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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot

Genome Med· October 2025

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Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.
Athanasia Stoupa, Dulanjalee Kariyawasam, Fabienne Jabot-Hanin, Adrien Nguyen-Quoc, Sylvain Hanein, Patrick Nitschke

J Clin Endocrinol Metab· September 2025

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Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity.
Najiba Alioua, Nathalie Lambert, Mathilde Puel, Sylvain Hanein, Paul Bastard

J Hum Immun· September 2025

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Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Jessica Kachmar, Hassan Saei, Vincent Morinière, Laurence Heidet, Bertrand Knebelmann

Am J Kidney Dis· May 2025

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Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Gaofeng Zhu, Blaise Didry-Barca, Luis Seabra, Gillian I Rice, Carolina Uggenti

Lancet Neurol· March 2025

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Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.
Clothilde Ormieres, Marion Lesieur-Sebellin, Karine Siquier-Pernet, Geoffroy Delplancq, Marlene Rio

Mol Autism· February 2025

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LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.
Matis Crespin, Karine Siquier-Pernet, Pauline Marzin, Christine Bole-Feysot, Valérie Malan

HGG Adv· January 2025

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Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.
Guillaume Dorval, Gérald Le Gac, Vincent Morinière, Chandran Ka, Claire Goursaud

Kidney Int· September 2024

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Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma.
Yuta Ito, Amira Marouf, Yasunori Kogure, Junji Koya, Raphaël Liévin

Cancer Res· July 2024

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Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures.
Hortense Didier-Mathon, Athanasia Stoupa, Dulanjalee Kariyawasam, Sonny Yde, Beatrix Cochant-Priollet, Patrick Nitschke

Front Endocrinol (Lausanne)· November 2023

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Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Patrick Nitschke

Mol Genet Genomic Med· September 2023

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A wave of deep intronic mutations in X-linked Alport syndrome.
Marie Boisson, Christelle Arrondel, Nicolas Cagnard, Vincent Morinière, Zaïna Aït Arkoub

Kidney Int· August 2023

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VNtyper enables accurate alignment-free genotyping of coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.
Hassan Saei, Vincent Morinière, Laurence Heidet, Olivier Gribouval, Said Lebbah

iScience· July 2023

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A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc

BMC Med Genomics· June 2023

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Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Lucile Boutaud, Benedetta Ruzzenente, Aude Tessier, Olivia Anselem, Emmanuelle Pannier, Patrick Nitschke

Brain· May 2023

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A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
Kalliopi Chatzovoulou, Anne Mayeur, Nicolas Cagnard, Mohammed Zarhrate, Christine Bole, Patrick Nitschke

Hum Reprod· May 2023

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Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia.
Sarah Faggetter, Alina Ferster, Laurence Dedeken, Anne Demulder, Ludvine David-Nguyen, Patrick Nitschke

Pediatr Blood Cancer· April 2023

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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.
Aude Tessier, Nathalie Roux, Lucile Boutaud, Elodie Lunel, Leila Hakkakian, Patrick Nitschke

Acta Neuropathol Commun· February 2023

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iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
Aurélie Mouka, Brahim Arkoun, Pauline Moison, Loïc Drévillon, Rafika Jarray, Patrick Nitschke

Sci Rep· August 2022

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Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Lyse Ruaud, Nathalie Roux, Lucile Boutaud, Bettina Bessières, Faustine Ageorges, Patrick Nitschke

Birth Defects Res· June 2022

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Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé

J Clin Invest· June 2022

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Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity.
Raphaël Dos Reis, Etienne Kornobis, Alyssa Pereira, Frederic Tores, Judit Carrasco

Nat Commun· June 2022

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Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect.
Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor

Nat Commun· June 2022

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