G. Millat

G. Millat, P. Chevalier, A. Moreau, 2018, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

A Novel Missense Mutation p.Gly162Glu of the Gene MYL2 Involved in Hypertrophic Cardiomyopathy: A Pedigree Analysis of a Proband

G. Millat, P. Chevalier, A. Janin, 2018, Molecular Diagnosis & Therapy.

Identification of Cx43 variants predisposing to ventricular fibrillation in the acute phase of ST-elevation myocardial infarction

F. Paganelli, F. Montestruc, G. Millat, 2022, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene].

G. Millat, H. Randrianaivo, A. Edmar, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.

G. Millat, R. Rousson, C. Rodriguez-Lafrasse, 2009, Clinical biochemistry.

The PPARγ pathway determines electrophysiological remodelling and arrhythmia risks in DSC2 arrhythmogenic cardiomyopathy

A. Meli, G. Millat, P. Chevalier, 2022, Clinical and translational medicine.

Short QT interval as a harbinger of an arrhythmogenic cardiomyopathy

G. Millat, P. Chevalier, A. Moreau, 2021, HeartRhythm case reports.

Non‐neuronopathic Gaucher disease due to saposin C deficiency

B. Poorthuis, A. Tylki-Szymańska, G. Millat, 2007, Clinical genetics.

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.

P. Helms, P. Desprez, G. Millat, 2014, European journal of medical genetics.

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

F. Fellmann, X. André-Fouët, G. Millat, 2012, BMC Medical Genetics.

HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy.

C. Dauphin, G. Millat, A. Janin, 2015, European journal of medical genetics.

Authors' response to the letter to the editor "Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation".

G. Millat, E. Schaefer, 2014, European journal of medical genetics.

Structure and function of the NPC2 protein.

G. Millat, M. Vanier, 2004, Biochimica et biophysica acta.

TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome.

G. Millat, P. Chevalier, A. Janin, 2019, European journal of medical genetics.

Clinical management and viral genomic diversity analysis of a child's influenza A(H1N1)pdm09 infection in the context of a severe combined immunodeficiency

B. Lina, A. Gaymard, V. Escuret, 2018, Antiviral research.

Types I and III Gaucher Disease in Poland: Incidence of the Most Common Mutations and Phenotypic Manifestations

A. Tylki-Szymańska, G. Millat, I. Maire, 1996, European journal of human genetics : EJHG.

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

C. Tomasetto, G. Millat, D. Wenger, 2001, American journal of human genetics.

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy

L. Faivre, G. Millat, P. Chevalier, 2019, Human mutation.

Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation

Y. Devaux, I. Ernens, G. Millat, 2018, BioMed research international.

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients

D. Bozon, R. Froissart, G. Millat, 1998, Clinical genetics.

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants

C. Cazeneuve, G. Millat, P. Chevalier, 2022, Molecular Diagnosis & Therapy.

Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy

D. Bozon, P. Moulin, N. Peretti, 2018, Clinical genetics.

The adult form of Niemann-Pick disease type C.

N. Baumann, F. Sedel, G. Lesca, 2006, Brain : a journal of neurology.

Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel

V. Probst, S. Chatel, J. Schott, 2013, PloS one.

Characterization of oseltamivir‐resistant influenza virus populations in immunosuppressed patients using digital‐droplet PCR: Comparison with qPCR and next generation sequencing analysis

B. Lina, A. Gaymard, V. Escuret, 2017, Antiviral research.

Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM 4 Channel

V. Probst, S. Chatel, J. Schott, 2013 .

Combined use of in silico and in vitro splicing assays for interpretation of genomic variants of unknown significance in cardiomyopathies and channelopathies

J. Albuisson, G. Millat, R. Rousson, 2012 .

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

G. Millat, O. Amaral, A. Marcão, 2001, Human Genetics.

iPSC Modeling of RBM20-Deficient DCM Identifies Upregulation of RBM20 as a Therapeutic Strategy

L. Steinmetz, M. Snyder, Shannon Rego, 2020, Cell reports.

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome

G. Millat, P. Bouvagnet, P. Chevalier, 2006, Clinical genetics.

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

L. Faivre, J. Fauré, G. Millat, 2021, Frontiers in Genetics.

[KCNH2 gene new mutation in a patient with prior diagnosis of epilepsy].

G. Millat, A. Roux, A. Chanseaume, 2014, Revue neurologique (Paris).

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts

K. Yamakawa, Y. Tsutsumi, E. Nanba, 2000, Journal of medical genetics.

Late-onset Fabry disease revealed by ventricular tachycardia: A case report

G. Millat, P. Chevalier, A. Fouilhoux, 2021, HeartRhythm case reports.

Brugada Type 1 Pattern and Risk Stratification for Sudden Death: Does the Key Hide in the ECG Analysis?

G. Millat, P. Chevalier, A. Moreau, 2018, Cardiac Arrhythmias.

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

G. Millat, R. Rousson, V. Chanavat, 2010, Clinica chimica acta; international journal of clinical chemistry.

Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition.

H. Lemarec, J. Barhanin, J. Schott, 2007, Heart rhythm.

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy

C. Dauphin, G. Habib, G. Millat, 2017, Clinical genetics.

[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].

F. Gottrand, G. Millat, M. Vanier, 2005, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years

C. Cazeneuve, G. Millat, P. Chevalier, 2021, Molecular Diagnosis & Therapy.

Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years

C. Cazeneuve, G. Millat, P. Chevalier, 2021, Molecular Diagnosis & Therapy.

Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.

G. Millat, R. Rousson, V. Chanavat, 2011, Clinica chimica acta; international journal of clinical chemistry.

The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.

E. Ficker, G. Christé, G. Millat, 2014, Gene.

Contribution of Long-QT Syndrome Genetic Variants in Sudden Infant Death Syndrome

D. Malicier, G. Millat, P. Chevalier, 2009, Pediatric Cardiology.

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

C. Béroud, F. Magdinier, C. Rooryck, 2019, Circulation. Genomic and precision medicine.

Evaluation of a New High-Throughput Next-Generation Sequencing Method Based on a Custom AmpliSeq™ Library and Ion Torrent PGM™ Sequencing for the Rapid Detection of Genetic Variations in Long QT Syndrome

G. Millat, R. Rousson, V. Chanavat, 2014, Molecular Diagnosis & Therapy.

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

A. Wilde, R. L. Lekanne Deprez, S. Mercier, 2023, Netherlands Heart Journal.

Niemann-Pick C disease : insight from studies on mutated NPC1 gene and protein

C. Tomasetto, Toshiyuki Yamamoto, G. Millat, 1999 .

Niemann-Pick disease type C.

G. Millat, M. Vanier, 2003, Clinical Genetics.

HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy.

C. Dauphin, G. Millat, A. Janin, 2015, European Journal of Medical Genetics.

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.

P. Helms, P. Desprez, G. Millat, 2014, European Journal of Medical Genetics.

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.

G. Millat, A. Janin, Valérie Chanavat, 2016, Clinica chimica acta; international journal of clinical chemistry.

A new C-terminal hERG mutation A915fs+47X associated with symptomatic LQT2 and auditory-trigger syncope.

I. Deschênes, E. Ficker, G. Christé, 2008, Heart rhythm.

A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.

A. Bozio, G. Millat, P. Bouvagnet, 2008, Congenital heart disease.

Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia

K. Yamakawa, Y. Tsutsumi, A. Iolascon, 2000, Journal of medical genetics.

Authors' response to the letter to the editor "Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation".

G. Millat, E. Schaefer, 2014, European journal of medical genetics.