G. Morin

发表

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.

Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

K. Zerres, J. Oldenburg, P. Nürnberg, 2014 .

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation

P. Laurent-Puig, T. Frebourg, P. Jonveaux, 2018, Genetics in Medicine.

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility

M. Crépin, F. Escande, M. Mathieu, 2012, Human mutation.

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.

G. Huet, D. Cheillan, J. Cuisset, 2018, Molecular genetics and metabolism.

Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

A. Afenjar, N. Philip, D. Lacombe, 2018, Clinical genetics.

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

D. Rabier, M. Gérard, A. Bourillon, 2015, European journal of medical genetics.

Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Salima El-Chehadeh, J. Mandel, S. Gras, 2014 .

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

M. Polak, N. Boddaert, A. Brice, 2017, Journal of Medical Genetics.

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

A. Echaniz-Laguna, C. Maurage, V. Biancalana, 2020, Human mutation.

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

P. Houillier, X. Jeunemaître, R. Salomon, 2006, Journal of the American Society of Nephrology : JASN.

HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy—Report of 11 Patients

H. Prokisch, S. Wortmann, J. Mayr, 2018, Neuropediatrics.

Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

C. Bénéteau, E. Deconinck, L. Garçon, 2019, Haematologica.

Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype?

N. Lévy, C. Desenclos, H. Deramond, 2008, European journal of medical genetics.

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

J. Weissenbach, R. Heilig, F. Silbermann, 1997, Human molecular genetics.

Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients

N. Philip, A. Renieri, F. Mari, 2010, American journal of medical genetics. Part A.

Recombinant human acid α-glucosidase

B. Byrne, J. Clancy, H. Mandel, 2007, Neurology.

TCF4 Deletions in Pitt‐Hopkins Syndrome

N. Philip, J. Rankin, F. Giuliano, 2008, Human mutation.

Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.

M. Devouassoux‐Shisheboran, J. Picard, C. Pienkowski, 2022, Human reproduction.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

R. Touraine, A. Toutain, N. Chassaing, 2021, Clinical genetics.

Cerebro‐costo‐mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission

S. Testelin, B. Devauchelle, J. Gondry, 2001, Prenatal Diagnosis.

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2

S. Mundlos, P. Knaus, P. Seemann, 2006, European Journal of Human Genetics.

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

J. Clancy, H. Mandel, N. Leslie, 2009, Pediatric Research.

Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients

A. Munnich, N. Baena, A. Verloes, 2014, Human mutation.

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

B. Byrne, J. Clancy, H. Mandel, 2007, Neurology.

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation

P. Laurent-Puig, T. Frebourg, P. Jonveaux, 2018, Genetics in Medicine.

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

J. Andrieux, M. Mathieu, J. Rochette, 2015, Annales d'endocrinologie.

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

J. Andrieux, M. Mathieu-Dramard, G. Morin, 2015, Case reports in genetics.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

M. Lemaître, L. Vallée, B. Gilbert-Dussardier, 2015, European journal of medical genetics.

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants

C. Vigouroux, A. Verloes, J. Thevenon, 2020, Clinical genetics.

New intragenic rearrangements in non‐Finnish mulibrey nanism

C. Vincent‐Delorme, J. Rochette, M. Mathieu-Dramard, 2017, American journal of medical genetics. Part A.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

Identification of mutations in CUL7 in 3-M syndrome

A. Munnich, P. Scambler, R. Hennekam, 2005, Nature Genetics.

Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review

C. Gondry-Jouet, J. Gondry, C. Klein, 2017, American journal of medical genetics. Part A.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

Peter Nürnberg, Kerstin Konrad, Klaus Zerres, 2014, Human mutation.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Melki, N. Philip, Salima El-Chehadeh, 2019, European Journal of Human Genetics.

DNA methylation of channel-related genes in cancers.

L. Rodat-Despoix, H. Ouadid‐Ahidouch, G. Morin, 2015, Biochimica et biophysica acta.

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

K. Dahan, P. Houillier, X. Jeunemaître, 2015, Human mutation.

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

F. Giuliano, F. Escande, A. Dieux, 2020, Human mutation.

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

R. Touraine, T. Frebourg, J. Roume, 2016, Journal of neuromuscular diseases.

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

K. Devriendt, H. Firth, S. Julia, 2013, European journal of medical genetics.

Non‐USH2A mutations in USH2 patients

P. Calvas, M. Claustres, S. Malcolm, 2012, Human mutation.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.

R. Salomon, G. Deschênes, F. Broux, 2017, Clinical journal of the American Society of Nephrology : CJASN.

[What management for the asymptomatic men carriers of BRCA1 or 2 mutation? Results of a survey in the French oncogenetic centers].

J. Gondry, M. Mathieu, B. Demeer, 2012, Bulletin du cancer.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation

A. Piton, M. Mathieu-Dramard, A. Le Moing, 2021, American journal of medical genetics. Part A.

Value of molecular typing in the assessment of bacterial translocation during coagulase-negative staphylococcal bacteremia in preterm infants

A. Léké, G. Kongolo, S. Goudjil, 2019 .

Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome

C. Creuzot-Garcher, J. Thevenon, S. Lyonnet, 2015, American journal of medical genetics. Part A.

Stormorken syndrome or York platelet syndrome: A clinician's dilemma

J. Rochette, G. Morin, Amrathlal Rabbind Singh, 2015, Molecular genetics and metabolism reports.

Medication adherence in Fabry patients treated with migalastat: Real world experience

E. Riccio, A. Pisani, J. Rochette, 2023, Molecular genetics and metabolism reports.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

J. Crolla, I. Temple, Meredith Wilson, 2015, American journal of medical genetics. Part A.

Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

S. Robertson, K. Devriendt, G. Scarano, 2012, Human mutation.

FOXE3 mutations: genotype‐phenotype correlations

P. Calvas, N. Chassaing, H. Dollfus, 2018, Clinical genetics.

Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease

W. Hwu, M. Halberthal, B. Thurberg, 2007 .

Nicolaides–Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals

A. Verloes, C. Baumann, N. Blanc, 2003, Clinical dysmorphology.