B. Gérard

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Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

G. Matthijs, B. Gérard, N. Ginet, 2000, Human mutation.

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.

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism

J. Mandel, B. Gérard, A. Piton, 2016, American journal of medical genetics. Part A.

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

A. Munnich, D. Lacombe, F. Giuliano, 2020, European Journal of Human Genetics.

PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study

A. Brice, C. Lebbé, N. Basset-Seguin, 2006, British Journal of Cancer.

Delineation of a 6 cM commonly deleted region in childhood acute lymphoblastic leukemia on the 6q chromosomal arm

H. Cavé, B. Gérard, B. Grandchamp, 1997, Leukemia.

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

E. Génin, C. Clavel, S. Leroy, 2009, Journal of Medical Genetics.

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

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.

NHERF1 mutations and responsiveness of renal parathyroid hormone.

B. Gérard, B. Grandchamp, Z. Karim, 2008, The New England journal of medicine.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

A. V. Vulto-van Silfhout, S. Antonarakis, B. Asselbergh, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Loss of heterozygosity in the chromosomal region 12p12-13 is very common in childhood acute lymphoblastic leukemia and permits the precise localization of a tumor-suppressor gene distinct from p27KIP1.

J. Weissenbach, H. Cavé, B. Gérard, 1995, Blood.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

E. Denamur, A. Laquérriere, H. Le Nagard, 2010, Kidney international.

Human neutrophils produce interferon gamma upon stimulation by interleukin-12

B. Gérard, A. Boutten, S. Chollet-Martin, 2004, Laboratory Investigation.

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma

H. Cavé, C. Lebbé, N. Basset-Seguin, 2004, British Journal of Cancer.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

J. Mandel, B. Gilbert-Dussardier, J. Thevenon, 2017, European Journal of Human 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 .

PTHR1 mutations associated with Ollier disease result in receptor loss of function.

M. Vikkula, B. Gérard, B. Grandchamp, 2008, Human molecular genetics.

Genetic generalized epilepsy and generalized onset seizures with focal evolution (GOFE)

B. Gérard, V. Dinkelacker, E. Hirsch, 2022, Epilepsy & behavior reports.

Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human

A. Bayat, Nengyin Sheng, B. Gérard, 2022, Molecular Psychiatry.

Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome

A. Munnich, A. Toutain, A. Verloes, 2005, European Journal of Human Genetics.

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

T. Arnesen, J. Rivière, G. Mancini, 2016, Human mutation.

Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure

C. Lebbé, N. Basset-Seguin, P. Verpillat, 2004, Journal of Medical Genetics.

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

Ethan M. Goldberg, Zara, Silvana, 2021 .

Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children.

B. Gérard, F. Da Silva, B. Grandchamp, 1997, Annales de genetique.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

J. Mandel, A. Verloes, A. Boland, 2018, European Journal of Human Genetics.

Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain

V. Meininger, F. Salachas, T. Maisonobe, 2012, Neurology.

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

C. V. van Ravenswaaij-Arts, T. Frebourg, S. Coutant, 2020, Human mutation.

genetic counselling carrier and normal populations: implication for deletion and duplication in SMN1 Prevalence of

O. Clermont, B. Gérard, J. Elion, 2008 .

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

O. Clermont, B. Gérard, J. Elion, 2003, Journal of medical genetics.

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

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

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations

B. Gérard, B. Grandchamp, J. El Benna, 2008, Human mutation.

Fluorometric detection of HIV-1 genome through use of an internal control, inosine-substituted primers, and microtiter plate format.

H. Cavé, B. Gérard, B. Grandchamp, 1996, Clinical Chemistry.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

A. Valéri, C. Clavel, G. Karsenty, 2013, Journal of Medical Genetics.

GM3 synthase deficiency in non-Amish patients

C. Schwartz, J. Thevenon, L. Faivre, 2021, Genetics in Medicine.

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure

A. Munnich, P. Rustin, A. Rötig, 1994, European Journal of Pediatrics.

Association study of the g.8818A>G polymorphism of the human agouti gene with melanoma risk and pigmentary characteristics in a French population.

C. Lebbé, N. Basset-Seguin, B. Gérard, 2005, Journal of dermatological science.

The A148T variant of the CDKN2A gene is not associated with melanoma risk in the French and Italian populations.

K. Peris, C. Lebbé, N. Basset-Seguin, 2006, The Journal of investigative dermatology.

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

T. Frebourg, M. Vezain, J. Vallat, 2011, Human mutation.

TLR9 Activation Induces Normal Neutrophil Responses in a Child with IRAK-4 Deficiency: Involvement of the Direct PI3K Pathway

B. Gérard, B. Grandchamp, J. El Benna, 2007, The Journal of Immunology.

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, Nature Communications.

Biochemical and molecular investigations in respiratory chain deficiencies.

T. Bourgeron, A. Munnich, P. Rustin, 1994, Clinica chimica acta; international journal of clinical chemistry.

Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis

M. Cossée, L. Faivre, B. Gérard, 2012, American journal of medical genetics. Part A.

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

R. Touraine, B. Gérard, A. Piton, 2021, neurogenetics.

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

A. Bayat, N. Matsumoto, K. Ogata, 2022, Human Genetics.

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Claire Redin, Jean Muller, Laurence Faivre, 2013, European Journal of Human Genetics.

Analysis of ETV6 and ETV6‐AML1 proteins in acute lymphoblastic leukaemia

H. Cavé, B. Gérard, B. Grandchamp, 1997, British journal of haematology.

Many roads lead to primary autosomal recessive microcephaly

Pierre Gressens, Shyamala Mani, Alain Verloes, 2010, Progress in Neurobiology.

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy

A. Afenjar, B. Gérard, A. Piton, 2021, American journal of medical genetics. Part A.

Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

I. Scheffer, H. Mefford, D. Goldstein, 2019, Annals of neurology.

Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma

F. Clerget-Darpoux, C. Lebbé, N. Basset-Seguin, 2005, European Journal of Human Genetics.

Genetic Susceptibility Factors in a Cohort of 38 Patients with SAPHO Syndrome: A Study of PSTPIP2, NOD2, and LPIN2 Genes

J. Hugot, B. Gérard, S. Chollet-Martin, 2010, The Journal of Rheumatology.

Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.

B. Gérard, E. Girodon, F. Oca, 2009, Clinical chemistry.

Sirenomelia and caudal malformations in two families

B. Gérard, M. Gérard, V. Layet, 2012, American journal of medical genetics. Part A.

Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.

B. Gérard, B. Grandchamp, D. Prié, 2002, The New England journal of medicine.

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.

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.

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.

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.

Systematic analysis and prediction of genes associated with disorders on chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, medRxiv.

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

V. Shashi, K. Schoch, B. Dallapiccola, 2021, American journal of medical genetics. Part A.

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

A. Bayat, N. Matsumoto, K. Ogata, 2022, Human Genetics.

Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations

A. Afenjar, A. Toutain, B. Cogné, 2020, Clinical genetics.

High-resolution allelotype analysis of childhood B-lineage acute lymphoblastic leukemia

H. Cavé, B. Gérard, B. Grandchamp, 1998, Leukemia.

Parental origin of the X-chromosome does not influence growth hormone treatment effect in Turner syndrome.

J. Coste, B. Gérard, J. Carel, 2012, The Journal of clinical endocrinology and metabolism.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Frédéric Tran Mau-Them, Jean-François Deleuze, Elise Schaefer, 2017, American journal of human genetics.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

P. Striano, S. Bianca, J. Goraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human

A. Bayat, Nengyin Sheng, B. Gérard, 2022, Molecular Psychiatry.

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.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

J. Mandel, A. Verloes, A. Boland, 2018, European Journal of Human Genetics.

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

R. Touraine, B. Gérard, A. Piton, 2021, neurogenetics.

Characterization of 11 novel mutations in the X‐linked chronic granulomatous disease (CYBB gene)

B. Gérard, B. Grandchamp, J. El Benna, 2001, Human mutation.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Golder N Wilson, I. Simonic, Soo-Mi Park, 2017, Journal of Medical Genetics.

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

A. Toutain, A. Verloes, B. Gérard, 2021, Human mutation.

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

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

Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl

J. Casanova, B. Gérard, A. Brézin, 2007, European Journal of Pediatrics.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

C. Romano, E. Eichler, H. Firth, 2020, Genetics in Medicine.

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

N. Drouot, M. Koenig, J. Mandel, 2018, JAMA neurology.

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

B. Gérard, D. Le Tessier, J. Dupont, 2014, Molecular Cytogenetics.

Genes LPIN 2 and PSTPIP 2 , NOD 2 , Syndrome : A Study of Genetic Susceptibility Factors in a Cohort of 38 Patients with SAPHO

J. Hugot, B. Gérard, S. Chollet-Martin, 2010 .

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

R. Scharfmann, P. Froguel, M. Phillip, 2013, The lancet. Diabetes & endocrinology.

Association between endothelin receptor B nonsynonymous variants and melanoma risk.

C. Lebbé, N. Basset-Seguin, B. Gérard, 2005, Journal of the National Cancer Institute.

Microvillous Atrophy: Atypical Presentations

J. Hugot, B. Gérard, O. Goulet, 2014, Journal of pediatric gastroenterology and nutrition.

The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol

F. Guillemin, C. Lejeune, A. Boland, 2022, Frontiers in Genetics.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, J. Rosenfeld, R. Pfundt, 2022, Molecular Psychiatry.

A familial syndromal form of omphalocele.

A. Verloes, B. Gérard, F. Escande, 2011, European journal of medical genetics.

Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype

W. Carré, L. Pasquier, L. Faivre, 2020, Clinical genetics.

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

A. Bayat, Marilyn C. Jones, B. Gérard, 2021, PLoS genetics.

Severe X-linked chronic granulomatous disease in two unrelated females

B. Gérard, B. Grandchamp, C. Gaud, 2007, European Journal of Pediatrics.

Deletion mapping indicates that MTS1 is the target of frequent deletions at chromosome 9p21 in paediatric acute lymphoblastic leukaemias

H. Cavé, P. Rohrlich, B. Gérard, 1996, British journal of haematology.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

I Scala, Alain Verloes, M. Elmaleh, 2009, Neurology.

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

W. Huttner, P. Gressens, S. Eliez, 2016, Cortex.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.

Marzena Kawczynski, M. Manière, A. Bloch-Zupan, 2019, Methods in molecular biology.

Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts

T. Bourgeron, A. Munnich, P. Rustin, 1993, European Journal of Pediatrics.

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Marzena Kawczynski, M. Manière, A. Bloch-Zupan, 2023, Frontiers in Physiology.

Microsatellite instability and frameshift mutations in BAX and transforming growth factor-beta RII genes are very uncommon in acute lymphoblastic leukemia in vivo but not in cell lines.

H. Cavé, B. Gérard, B. Grandchamp, 1998, Blood.

Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human

A. Bayat, Nengyin Sheng, B. Gérard, 2022, Molecular Psychiatry.

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.

Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study

C. Lejeune, A. Boland, T. Frebourg, 2022, Frontiers in Genetics.

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

G. Mancini, D. Bick, J. Thevenon, 2019, Human molecular genetics.

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

A. Bayat, S. Efthymiou, H. Houlden, 2021, Neurogenetics.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

P. Fergelot, F. Alkuraya, P. Bayrak-Toydemir, 2023, Journal of Medical Genetics.

Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children

F. Laenger, B. Gérard, K. Cremer, 2023, Pediatric pulmonology.

Valuing genetic and genomic testing in France: current challenges and latest evidence

C. Lejeune, T. Frebourg, J. Deleuze, 2021, Journal of Community Genetics.

Duodenal expression of NF‐E2 in mouse models of altered iron metabolism

C. Beaumont, B. Gérard, B. Grandchamp, 1995, British journal of haematology.

PTHR1 mutations associated with Ollier disease result in receptor loss of function.

M. Vikkula, B. Gérard, B. Grandchamp, 2008, Human molecular genetics.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

E. Denamur, A. Laquérriere, M. Gonzalès, 2010, Kidney international.

Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis

B. Gérard, A. Korganow, M. Frémond, 2022, Journal of Clinical Immunology.

Microvillous Atrophy: Atypical Presentations

J. Hugot, B. Gérard, O. Goulet, 2014, Journal of pediatric gastroenterology and nutrition.