F. Bilan

发表

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Andrei L. Turinsky, Michael Brudno, Raveen Basran, 2017, American journal of human genetics.

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

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

Proteasome-Dependent Pharmacological Rescue of Cystic Fibrosis Transmembrane Conductance Regulator Revealed by Mutation of Glycine 622

A. Kitzis, F. Bilan, C. Norez, 2008, Journal of Pharmacology and Experimental Therapeutics.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

B. Gilbert-Dussardier, C. Rooryck, C. Bénéteau, 2017, European Journal of Human Genetics.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.

F. Bilan, F. Brugnon, I. Creveaux, 2008, Fertility and sterility.

CNVscore calculates pathogenicity scores for copy number variants together with uncertainty estimates accounting for learning biases in reference Mendelian disorder datasets.

C. Béroud, D. Salgado, A. Rausell, 2022, medRxiv.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients

B. Gilbert-Dussardier, A. Kitzis, F. Bilan, 2019, European Journal of Human Genetics.

Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia

A. Kitzis, F. Bilan, S. Patri, 2019, Annals of laboratory medicine.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

S. Julia, R. Touraine, A. Toutain, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome

N. Philip, B. Gilbert-Dussardier, F. Bilan, 2016, Prenatal diagnosis.

Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.

B. Gilbert-Dussardier, A. Kitzis, F. Bilan, 2012, The Journal of molecular diagnostics : JMD.

Proteasome-dependent pharmacological rescue of CFTR revealed by mutation of glycine 622

A. Kitzis, F. Bilan, C. Norez, 2008 .

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

H. Cavé, M. Vidaud, A. Verloes, 2016, Orphanet Journal of Rare Diseases.

Osteogenesis imperfecta, tricho‐dento‐osseous syndrome and intellectual disability: A familial case with 17q21.33‐q22 (COL1A1 and DLX3) deletion and 7q32.3‐q33 duplication resulting from a reciprocal interchromosomal insertion

B. Gilbert-Dussardier, A. Kitzis, F. Bilan, 2013, American journal of medical genetics. Part A.

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD)

M. Sibony, B. Gilbert-Dussardier, A. Kitzis, 2015, American journal of medical genetics. Part A.

De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission

R. Abou Jamra, H. Sticht, H. Taschenberger, 2022, Annals of neurology.

De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

H. Sticht, H. Taschenberger, N. Brose, 2021, medRxiv.

Structural Pituitary Abnormalities Associated With CHARGE Syndrome

M. Dattani, F. Bilan, M. McCabe, 2013, The Journal of clinical endocrinology and metabolism.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

G. Cooper, P. Fergelot, K. Devriendt, 2020, European Journal of Human Genetics.

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, 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.

Delineation of 15q13.3 microdeletions

M. Holder, L. Vallée, B. Gilbert-Dussardier, 2010, Clinical genetics.

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder

A. Bayat, G. Le Guyader, Sara A. Lewis, 2023, bioRxiv.

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

N. Brown, H. Peeters, E. Eichler, 2020, American journal of human genetics.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

C. Fallet-Bianco, Y. Ville, B. Gilbert-Dussardier, 2012, Journal of Medical Genetics.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

R. Touraine, L. Cuisset, H. Hamdi-Rozé, 2019, Prenatal diagnosis.

Characterization of the different BCR-ABL transcripts with a single multiplex RT-PCR.

A. Kitzis, F. Bilan, F. Guilhot, 2004, The Journal of molecular diagnostics : JMD.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.

A. Kitzis, B. Parfait, P. Vourc'h, 2014, Neuro-oncology.

1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number

A. Urban, D. Levinson, Bo Zhou, 2018, npj Genomic Medicine.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

S. Antonarakis, S. Gimelli, F. Béna, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Prescott, N. C. Yeo, S. Nelson, 2020, medRxiv.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

R. Pfundt, H. Mefford, D. Goldstein, 2018, Annals of neurology.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

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.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genistein.

A. Kitzis, F. Bilan, C. Norez, 2004, Biochemical pharmacology.

Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells.

A. Kitzis, F. Bilan, C. Norez, 2008, Experimental cell research.

Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.

B. Gilbert-Dussardier, A. Kitzis, F. Bilan, 2016, European journal of medical genetics.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

S. Scherer, C. Cytrynbaum, R. Weksberg, 2022, Brain : a journal of neurology.

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.

Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

P. Shannon, D. Chitayat, K. Gilmore, 2023, American journal of medical genetics. Part A.

[Molecular biology usefulness for rapid diagnosis of Down's syndrome and common aneuploidies].

B. Gilbert-Dussardier, A. Kitzis, F. Bilan, 2009, Gynecologie, obstetrique & fertilite.

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

A. Pizzuti, B. Gilbert-Dussardier, C. Bénéteau, 2020, American journal of medical genetics. Part A.

Syntaxin 8 impairs trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) and inhibits its channel activity

R. Dérand, A. Kitzis, F. Bilan, 2004, Journal of Cell Science.

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients

S. Ragot, B. Gilbert-Dussardier, S. Lyonnet, 2020, Orphanet Journal of Rare Diseases.

Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotype.

A. Kitzis, F. Bilan, R. Clément, 2011, The Journal of molecular diagnostics : JMD.

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

R. Pfundt, J. Howe, H. Brunner, 2023, Human molecular genetics.

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3

F. Bilan, H. Jilani, S. Hizem, 2023, Ophthalmic genetics.

1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number

A. Urban, D. Levinson, Bo Zhou, 2018, npj Genomic Medicine.

Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family

A. Kitzis, E. Colin, D. Bonneau, 2012, Prenatal Diagnosis.

Consultations in Molecular Diagnostics Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations

A. Kitzis, F. Bilan, V. Ladevèze, 2009 .

Regulatory region upstream of SOX9 and 46,XX

B. Gilbert-Dussardier, K. McElreavey, R. Bhouri, 2015 .

Structural Pituitary Abnormalities Associated With CHARGE Syndrome

M. Dattani, F. Bilan, M. McCabe, 2013, Journal of Clinical Endocrinology and Metabolism.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

N. Drouot, J. Mandel, B. Gilbert-Dussardier, 2022, bioRxiv.

A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.

A. Kitzis, B. Parfait, P. Vourc'h, 2014, Neuro-oncology.

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

F. Lecoquierre, B. Cogné, W. Deb, 2024, European journal of medical genetics.