C. Thauvin

发表

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

X. Estivill, M. Caulfield, P. Froguel, 2012, Nature Genetics.

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

R. Redon, A. Vighetto, G. Bourque, 2017, Neurobiology of Aging.

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

B Croisile, J. Pariente, J. Lambert, 2012, Molecular Psychiatry.

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

J. Rivière, J. Thevenon, L. Faivre, 2014, European Journal of Human Genetics.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of Human Genetics.

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

J. Lusson, P. Acar, J. Roume, 2015, European Journal of Human Genetics.

Psychiatric adult-onset of urea cycle disorders: A case-series

C. Thauvin, S. Odent, F. Maillot, 2017, Molecular genetics and metabolism reports.

Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking

L. Faivre, C. Thauvin, P. Fauque, 2019, Cellular and Molecular Life Sciences.

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

T. Frebourg, L. Faivre, P. Gambert, 2005, European Journal of Human Genetics.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Albert David, Jean Weissenbach, José-Alain Sahel, 2011, Orphanet journal of rare diseases.

Hemiplegic Migraine Associated With PRRT2 Variations

F. Viallet, S. Lamoureux, S. Auvin, 2022, Neurology.

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

M. Tartaglia, R. Maroofian, H. Houlden, 2022, American journal of human genetics.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

M. Ross, G. Captier, C. Gondry-Jouet, 2019, Nature Genetics.

The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles

J. Rivière, R. Boidot, L. Faivre, 2023, Oncotarget.

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis

L. Vallée, J. Thevenon, L. Faivre, 2014, American journal of medical genetics. Part A.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Fajr A. Aleisa, J. Rosenfeld, A. Bye, 2019, American journal of human genetics.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

A. Munnich, D. Figarella-Branger, S. Küry, 2015, Orphanet Journal of Rare Diseases.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

R. Redon, A. Munnich, B. Keavney, 2013, American journal of human genetics.

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.

T. Sparks, A. Slavotinek, C. Thauvin, 2021, European journal of medical genetics.

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

X. Estivill, M. Caulfield, P. Froguel, 2012, Nature Genetics.

[Finnish amyloid polyneuropathy in a French patient].

M. Giroud, C. Thauvin, T. Moreau, 2006, Revue neurologique.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

J. Rivière, A. Boland, J. Deleuze, 2021, Genetics in Medicine.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

F. Rivier, C. Béroud, F. Chapon, 2022, Orphanet Journal of Rare Diseases.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

A. Brice, V. Drouin‐Garraud, C. Thauvin, 2014, Orphanet Journal of Rare Diseases.

Hemiplegic Migraine Associated With PRRT2 Mutations: A Clinical and Genetic Study.

F. Viallet, S. Lamoureux, S. Auvin, 2021, Neurology.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Genome Medicine.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Valuing genetic and genomic testing in France: current challenges and latest evidence

C. Lejeune, T. Frebourg, J. Deleuze, 2021, Journal of Community Genetics.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

J. Rivière, A. Boland, J. Deleuze, 2021, Genetics in Medicine.

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome

C. Philippe, A. Piton, Y. Duffourd, 2023, American journal of medical genetics. Part A.

Assessment of Mendelian and risk factor genes in Alzheimer disease: a prospective nationwide clinical utility study and recommendations for genetic screening.

O. Martinaud, K. Bennys, V. de la Sayette, 2024, Genetics in medicine : official journal of the American College of Medical Genetics.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

W. M. van der Flier, D. Grozeva, O. Martinaud, 2022, Genome Medicine.