P. Blanchet

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Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

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.

Prevalence and timing of pregnancy termination for brain malformations

F. Rivier, A. Laquérriere, F. Encha-Razavi, 2011, Archives of Disease in Childhood: Fetal and Neonatal Edition.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Prader‐Willi syndrome: is there a recognizable fetal phenotype?

G. Lefort, J. Puechberty, C. Coubes, 2008, Prenatal diagnosis.

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

J. Choi, H. Kayserili, J. Thevenon, 2017, American journal of medical genetics. Part A.

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

M. Claustres, N. Pallares-Ruiz, A. Roux, 2002, 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.

Early prenatal diagnosis of ICF syndrome by mutation detection

G. Lefort, M. Rigolet, E. Viégas-Péquignot, 2007, Prenatal diagnosis.

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective

M. Barat‐Houari, T. Guignard, G. Cambonie, 2022, European Journal of Human Genetics.

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

G. Lefort, Christian Jorgensen, J. Puechberty, 2012, European Journal of Human Genetics.

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

A. Munnich, L. Al-Gazali, S. Bellais, 2007, American journal of human genetics.

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

R. Salomon, O. Gribouval, F. Silbermann, 2014, American journal of human genetics.

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

P. Bénit, F. Rivier, P. Rustin, 2019, European Journal of Human Genetics.

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.

Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association.

A. Verloes, C. Curry, P. Blanchet, 1998, Journal of medical genetics.

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

L. Vallée, B. Echenne, M. Cossée, 2006, European Journal of Human Genetics.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

H. Cavé, N. Philip, C. Chiaverini, 2019, The British journal of dermatology.

BMC Medical Genetics BioMed Central Research article Molecular epidemiology of DFNB1 deafness in France

A. Vielle, M. Claustres, N. Pallares-Ruiz, 2004 .

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

P. Nitschké, N. Deggouj, A. David, 2017, Human mutation.

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

G. Cooper, M. Williamson, A. McNeill, 2017, PLoS Genetics.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

H. Cavé, A. Toutain, V. Drouin‐Garraud, 2016, European Journal of Human 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.

Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation

G. Lefort, J. Demaille, F. Pellestor, 2001, Journal of medical genetics.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Timothy J. Edwards, Ryan J. Dean, H. Peeters, 2018, American journal of human 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.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

Molecular analysis of the first differentiations in the mouse embryo.

P. Brûlet, M. Kaghad, C. Babinet, 1985, Cold Spring Harbor symposia on quantitative biology.

Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms

G. Lefort, J. Puechberty, C. Coubes, 2006, Prenatal diagnosis.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Type I hyperprolinemia: genotype/phenotype correlations

D. Valle, D. Campion, A. Afenjar, 2010, Human mutation.

Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion.

F. Rivier, G. Lefort, J. Demaille, 2002, American journal of medical genetics. Part A.

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.

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

R. Salomon, C. Antignac, P. Nitschké, 2011, Journal of Medical Genetics.

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

C. Fallet-Bianco, D. Figarella-Branger, A. Laquérriere, 2012, Brain : a journal of neurology.

New mutation in the platelet β3‐integrin gene: implication for the diagnosis of fetomaternal alloimmunization

C. Kaplan, G. Bertrand, F. Bianchi, 2006, Transfusion.

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

J. Melki, S. Julia, P. Jouk, 2018, European Journal of Human Genetics.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Non‐USH2A mutations in USH2 patients

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

Epiphyseal punctate calcifications (stippling) in complete trisomy 9

Haíssam Rahil, G. Lefort, P. Blanchet, 2009, Prenatal diagnosis.

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations

G. Lefort, P. Callier, J. Puechberty, 2019, Molecular genetics & genomic medicine.

PHENOTYPIC AND CYTOGENETIC VARIETY OF PURE PARTIAL TRISOMY OF CHROMOSOME 16P

G. Lefort, J. Puechberty, F. Pellestor, 2009 .

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1‐mutated males

L. Hertz-Pannier, R. Touraine, F. Giuliano, 2011, Clinical genetics.

Molecular heterogeneity in fetal forms of type II lissencephaly

M Joubert, C. Fallet-Bianco, D. Figarella-Branger, 2007, Human mutation.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

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.

Kiwifruit (Actinidia deliciosa Chev.) pollination: honeybee behaviour and its influence on the fruit.

P. Blanchet, 1990 .

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

C. Rooryck, L. Pasquier, E. Colin, 2023, Frontiers in Genetics.

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

S. Julia, A. Afenjar, A. Toutain, 2021, European Journal of Human Genetics.

G. Captier, J. Rivière, M. Barat‐Houari, 2017, Genetics in Medicine.

Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis

A. Fabre, M. Barat‐Houari, I. Touitou, 2020, Arthritis & rheumatology.

Molecular epidemiology of deafness in France reclassifies mutations as common polymorphisms in the GJB 2 gene

A. Vielle, M. Claustres, N. Pallares-Ruiz, 2003 .

Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.

M. Claustres, N. Pallares-Ruiz, A. Roux, 2001, Genetic testing.

Nonsyndromic 35 delG Mutation of the Connexin 26 Gene Associated With Deafness in Syndromic Children: Two Case Reports

M. Claustres, N. Pallares-Ruiz, A. Roux, 2004, The Laryngoscope.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.

Multiple congenital anomalies associated with an oto-palato-digital syndrome type II.

G. Lefort, P. Blanchet, P. Sarda, 1993, Genetic counseling.

Expression of FMR1, FXR1, and FXR2 genes in human prenatal tissues.

A. Malafosse, C. Moraine, V. Biancalana, 1999, Journal of neuropathology and experimental neurology.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Study of dioecism in kiwifruit, Actinidia deliciosa, Chevalier.

A. Hirsch, P. Blanchet, D. Fortune, 1990 .

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.