B. Delobel

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Electrical energy storage cell of lithium-ion battery comprising a positive electrode comprising a material of the LCO-type lmo

B. Delobel, L. Marchal, 2013 .

The electrode tortuosity factor: why the conventional tortuosity factor is not well suited for quantifying transport in porous Li-ion battery electrodes and what to use instead

C. Delacourt, S. J. Cooper, B. Delobel, 2020, npj Computational Materials.

Experimental and Modeling Analysis of Graphite Electrodes with Various Thicknesses and Porosities for High-Energy-Density Li-Ion Batteries

Charles Delacourt, C. Delacourt, B. Delobel, 2018 .

Determination of Tortuosity Using Impedance Spectra Analysis of Symmetric Cell

C. Delacourt, B. Delobel, Simon Malifarge, 2017 .

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

The lithium intercalation compound Li2CoSiO4 and its behaviour as a positive electrode for lithium batteries

P. Bruce, B. Delobel, C. Lyness, 2007 .

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

M. Mattei, B. Delobel, A. Moncla, 1998, Journal of medical genetics.

Smith-Magenis syndrome

L. Vallée, N. Philip, B. Delobel, 2019, Definitions.

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.

Familial occurrence of thymoma and autoimmune diseases with the constitutional translocation t(14;20)(q24.1;p12.3)

M. Copin, J. Andrieux, B. Delobel, 2005, Genes, chromosomes & cancer.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

A. Munnich, I. Simonic, S. Mehta, 2012, Journal of Medical Genetics.

A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay.

L. Vallée, J. Andrieux, B. Delobel, 2011, European journal of medical genetics.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2006, European Journal of Human Genetics.

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

C. Petit, F. Denoyelle, A. Toutain, 2004, Clinical genetics.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

A. Toutain, Olivier Tassy, D. Lacombe, 2012, European Journal of Human Genetics.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

M. Holder-Espinasse, A. Verloes, M. Carella, 2014, European Journal of Human Genetics.

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2005, Archives of otolaryngology--head & neck surgery.

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations.

L. Vallée, B. Delobel, M. Tardieu, 1998, American journal of medical genetics.

Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

B. Delobel, M. Rethoré, Z. Chettouh, 1995, American journal of human genetics.

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome

B. Delobel, C. Vincent‐Delorme, B. Duban-Bedu, 2018, European Journal of Human Genetics.

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome

M. Irving, B. Delobel, C. Vincent‐Delorme, 2013, American journal of medical genetics. Part A.

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell– Silver syndrome

M. Holder-Espinasse, B. Delobel, B. Duban-Bedu, 2012, Clinical genetics.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

L. Faivre, H. Dollfus, P. Jonveaux, 2010, Journal of Medical Genetics.

High reactivity of the nickel-rich LiNi1-x-yMnxCoyO2 layered materials surface towards H2O/CO2 atmosphere and LiPF6-based electrolyte

Ana C. Martinez, S. Laruelle, S. Grugeon, 2020 .

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.

G. Annéren, J. Andrieux, B. Delobel, 2013, European journal of medical genetics.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

A. Munnich, M. Bitner-Glindzicz, E. Tobias, 2013, Journal of Medical Genetics.

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

S. Julia, M. Cossée, J. Mandel, 2011, American journal of medical genetics. Part A.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

R. Touraine, A. Verloes, F. Ramond, 2020, Clinical genetics.

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.

P. Tonella, B. Conrad, J. Hardelin, 2010, The Journal of clinical endocrinology and metabolism.

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.

Identification of novel mutations in WFS1 and genotype–phenotype correlation in Wolfram syndrome

V. Procaccio, B. Delobel, P. Lecomte, 2007, American journal of medical genetics. Part A.

Mécanisme inhabituel d'un syndrome de Prader-Willi: incidence sur le conseil génétique

G. Kongolo, V. Biancalana, B. Delobel, 1998 .

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

R. G. C. C. L. Cardenas, B. Dallapiccola, K. Lachlan, 2016, Genetics and molecular biology.

The lithium intercalation compound Li2CoSiO4 and its behaviour as a positive electrode for lithium batteries.

P. Bruce, B. Delobel, C. Lyness, 2008, Chemical communications.

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Z. Tümer, L. Vallée, S. Tinschert, 2012, European journal of medical genetics.

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

J. Andrieux, B. Delobel, J. Cuisset, 2008, European Journal of Medical Genetics.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American journal of medical genetics. Part A.

Characterization and meiotic segregation of a supernumerary marker chromosome in sperm of infertile males: case report and literature review.

B. Delobel, N. Douet-Guilbert, F. Morel, 2012, European journal of medical genetics.

Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation.

C. Chiaverini, C. Philippe, S. Hadj-Rabia, 2019, The Journal of investigative dermatology.

A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins

M. Mattei, B. Delobel, D. Depetris, 2002, European Journal of Human Genetics.

Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies

B. Delobel, Y. Rumpler, J. Rigot, 1998, Human Genetics.

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2004, American journal of medical genetics. Part A.

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

P. Pennamen, M. Marks, D. Lacombe, 2020, Genetics in Medicine.

Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature.

B. Delobel, M. Braekeleer, N. Douet-Guilbert, 2005, International journal of andrology.

Chromosome aneuploidy in the spermatozoa of two men with globozoospermia.

B. Delobel, N. Douet-Guilbert, F. Morel, 2004, Molecular human reproduction.

Lack of intraindividual variation of unbalanced spermatozoa frequencies from a 46,XY,t(9;22)(q21;q11.2) carrier: case report.

B. Delobel, N. Douet-Guilbert, F. Morel, 2004, Human reproduction.

Synaptic behaviour of sex chromosome in two XYY men.

B. Delobel, Y. Rumpler, J. Rigot, 1996, Annales de genetique.

Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage.

J. Andrieux, B. Delobel, P. Gosset, 2010, Fertility and sterility.

An excess of chromosome 1 breakpoints in male infertility

R. Stallings, C. Lundsteen, Z. Tümer, 2004, European Journal of Human Genetics.

Immune deficiencies , infection , and systemic immune disorders Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

A. Fischer, C. Picard, M. Koenig, 2011 .

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

P. Stankiewicz, P. Szafranski, S. Cheung, 2014, BMC Medical Genetics.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Bradley P. Coe, B. Coe, J. Schuurs-Hoeijmakers, 2016, American journal of human genetics.

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.

Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets

D. Rujescu, S. Cichon, A. Ingason, 2013, Translational Psychiatry.

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.

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

M. Mattei, B. Delobel, A. Moncla, 2007, European Journal of Human Genetics.

Identification of two novel loss‐of‐function SIM1 mutations in two overweight children with developmental delay

D. Meyre, P. Froguel, A. Bonnefond, 2014, Obesity.

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

L. Vallée, M. Mattei, P. Jonveaux, 2003, Journal of medical genetics.

Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features.

J. Andrieux, B. Delobel, S. Bouquillon, 2009, European journal of medical genetics.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

C. Garel, J. Andrieux, B. Delobel, 2021, Clinical genetics.

Delineation of 15q13.3 microdeletions

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

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

Mutational spectrum of CDKL5 in early‐onset encephalopathies: a study of a large collection of French patients and review of the literature

F. Giuliano, C. Philippe, P. Jonveaux, 2009, Clinical 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.

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome

B. Delobel, C. Vincent‐Delorme, E. Boudry-Labis, 2018, European Journal of Human Genetics.

Renal oncocytoma with a novel chromosomal rearrangement, der(13)t(13;16)(p11;p11), associated with a renal cell carcinoma.

E. Leteurtre, B. Delobel, X. Leroy, 2002, Journal of clinical pathology.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

L. Pasquier, P. Latour, J. Andrieux, 2009, European journal of medical genetics.

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2012, European Journal of Human Genetics.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.

B Claustrat, M Vekemans, A. Munnich, 2001, The Journal of pediatrics.

Le syndrome de Smith-Magenis

L. Vallée, N. Philip, B. Delobel, 1997 .

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability

P. Froguel, A. Bonnefond, M. Cnop, 2018, Molecular metabolism.

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

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

A 5‐megabase familial deletion removes the IDS and FMR‐1 genes in a male Hunter patient

D. Bozon, B. Delobel, I. Maire, 1996, Human Mutation.

Antley-Bixler syndrome: case report and review of the literature.

B. Delobel, P. Courrèges, F. Poddevin, 1995, Genetic counseling.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

J. Rosenfeld, P. Marynen, K. Devriendt, 2013, Human Genetics.

Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions

S. Lyonnet, M. Vekemans, J. Andrieux, 2007, Journal of Medical Genetics.

deletionspalate in SMS is associated with larger CGH-array: Smith-Magenis Syndrome patients using Genotype-phenotype correlation of 30

S. Lyonnet, M. Vekemans, B. Delobel, 2007 .

Deletion of chromosome 4p detected by FISH in a girl with normal high resolution karyotype

B. Delobel, O. Boute, G. Viot, 1999, Clinical genetics.

Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH

J. Andrieux, B. Delobel, E. Delaby, 2009, American journal of medical genetics. Part A.

Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females

M. Leboyer, F. Poustka, W. Maier, 1999, Psychiatry Research.

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

F. Escande, B. Delobel, V. Cormier-Daire, 2018, European Journal of Human Genetics.

Characterization of sSMC by FISH and molecular techniques.

T. Liehr, S. Nampoothiri, S. Romana, 2011, European journal of medical genetics.

Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.

J. Andrieux, B. Delobel, F. Leprêtre, 2008, European journal of medical genetics.

Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.

D. Lipsker, C. Chiaverini, B. Isidor, 2022, European journal of medical genetics.

3D Quantification of Microstructural Properties of LiNi0.5Mn0.3Co0.2O2 High‐Energy Density Electrodes by X‐Ray Holographic Nano‐Tomography

C. Delacourt, B. Delobel, B. Fleutot, 2021, Advanced Energy Materials.

Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene

F. Giuliano, B. Delobel, B. Vialettes, 2005, Human mutation.

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study

B. Klink, C. Bénéteau, J. Thevenon, 2022, Clinical genetics.

Electrochemical behavior of pure graphite studied with a powder microelectrode

B. Delobel, I. Lucas, V. Vivier, 2018, Electrochemistry Communications.

On the electrochemical impedance response of composite insertion electrodes – Toward a better understanding of porous electrodes

B. Delobel, I. Lucas, V. Vivier, 2019, Electrochimica Acta.

French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature.

B. Delobel, I. Luquet, F. Fellmann, 2002, Annales de genetique.

Molecular mapping of a Yq deletion in a patient with normal stature

B. Delobel, J. Rigot, M. Croquette, 1996, Human Genetics.

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

J. Clayton-Smith, G. Jondeau, D. Bonneau, 2020, Human Genetics.

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

R. G. C. C. L. Cardenas, B. Dallapiccola, K. Lachlan, 2016, Genetics and molecular biology.

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

C. Petit, D. Weil, F. Denoyelle, 2004, European Journal of Human Genetics.

One-step precipitation of nanometric LiMO2 powders (M = Co, Fe) in alcoholic media

Evelyne Simon, Jean-François Blach, Laurence Croguennec, 2010 .

[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].

B. Delobel, P. Modiano, P. Castorina, 2002, Annales de dermatologie et de vénéréologie.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

P. Fergelot, P. Gasparini, S. Mansour, 2017, European Journal of Human Genetics.

Quantification of preferred orientation in graphite electrodes for Li-ion batteries with a novel X-ray-diffraction-based method

C. Delacourt, B. Delobel, Simon Malifarge, 2017 .

Distribution of gelsolin in human testis

P. Danjou, E. Hermand, B. Delobel, 1997, Molecular reproduction and development.

Guidelines for the Analysis of Data from the Potentiostatic Intermittent Titration Technique on Battery Electrodes

C. Delacourt, B. Delobel, Simon Malifarge, 2017 .

Mathematical Modeling of Energy-Dense NMC Electrodes: I. Determination of Input Parameters

C. Delacourt, B. Delobel, B. Fleutot, 2022, Journal of The Electrochemical Society.

A novel mutation and novel features in Nijmegen breakage syndrome

A. Green, E. Shoubridge, A. Munnich, 2001, Journal of medical genetics.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American Journal of Medical Genetics Part A.

Method for a battery operating range management

B. Delobel, Antoine Saint-Marcoux, 2014 .

Real-time mass spectroscopy analysis of Li-ion battery electrolyte degradation under abusive thermal conditions

B. Delobel, S. Fontana, S. Cahen, 2017 .

Method and charging system of a motor vehicle battery as a function of temperature

B. Delobel, L. Marchal, Julien Marie, 2013 .

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

Identification of two novel loss‐of‐function SIM1 mutations in two overweight children with developmental delay

D. Meyre, P. Froguel, A. Bonnefond, 2014, Obesity.

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome

M. Irving, B. Delobel, C. Vincent‐Delorme, 2013, American journal of medical genetics. Part A.