C. Besmond

I. Fajardy, P. Fontaine, C. Besmond, 1999, European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics.

Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene.

S. Amselem, C. Desbois-Mouthon, J. Capeau, 1995, The Journal of clinical endocrinology and metabolism.

Severe resistance to insulin and insulin-like growth factor-I in cells from a patient with leprechaunism as a result of two mutations in the tyrosine kinase domain of the insulin receptor.

S. Amselem, C. Desbois-Mouthon, J. Capeau, 1996, Metabolism: clinical and experimental.

De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures

A. Munnich, N. Boddaert, S. Lyonnet, 2019, Journal of Medical Genetics.

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency

A. Munnich, N. Boddaert, A. Rötig, 2018, Journal of Medical Genetics.

Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections

J. Elion, J. Feingold, M. Neonato, 1999, European Journal of Human Genetics.

Assignment of the human recombination activating gene 1 (RAG1) to the 14q21.3-q22.2 region.

V. Blanquet, M. Goossens, C. Turleau, 1992, Genomics.

Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitization.

C. Desbois-Mouthon, J. Capeau, M. Caron, 1996, The Journal of clinical endocrinology and metabolism.

Microsatellite polymorphism in the promoter sequence of the elongation factor 3 gene of Candida albicans as the basis for a typing system

J. M. Costa, R. Calderone, S. Bretagne, 1997, Journal of clinical microbiology.

Exome sequencing of extreme phenotypes in bronchopulmonary dysplasia

C. Delacourt, A. Hadchouel, C. Besmond, 2019, European Journal of Pediatrics.

Molecular cloning and sequence analysis of cDNA for human transferrin.

M. Frain, A. Kahn, M. Zakin, 1984, Biochemical and biophysical research communications.

Genotyping of the three major allelic variants of the human mannose‐binding lectin gene by denaturing gradient gel electrophoresis

C. Besmond, M. Gabolde, S. Muralitharan, 1999, Human mutation.

Nucleotide sequence of a cDNA clone for human aldolase B.

M. Frain, A. Kahn, M. Zakin, 1983, Biochemical and biophysical research communications.

GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays.

A. Munnich, S. Lyonnet, Yehuda Brody, 2005, BioTechniques.

Characterization of a putative type IV aminophospholipid transporter P-type ATPase

F. Képès, S. Flamant, M. Fellous, 2003, Mammalian Genome.

Polymorphism in exon 10 of the human coagulation factor V gene in a population at risk for sickle cell disease

J. Elion, R. Ducrocq, C. Besmond, 1997, Human Genetics.

RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making.

J. Bacchetta, B. Ranchin, D. Ville, 2019, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families

S. Amselem, C. Desbois-Mouthon, J. Capeau, 1997, Prenatal diagnosis.

Cell-Free Translation of Messenger RNAs from Human Muscle Biopsies: a Miniaturized Tool for Investigation of Neuromuscular Diseases

A. Munnich, J. Marie, A. Kahn, 1982, Pediatric Research.

Characterization of messenger RNA for aldolase B in adult and fetal human liver.

A. Kahn, C. Besmond, J. Dreyfus, 1982, Biochemical and biophysical research communications.

Cell free synthesis of human prothrombin: immunological characterization of the translation product.

R. Benarous, A. Kahn, C. Besmond, 1981, Biochemical and biophysical research communications.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

A. Munnich, N. Boddaert, A. Rötig, 2020, Journal of Medical Genetics.

Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial aggregation in schizophrenia spectrum disorders

A. Munnich, N. Franck, A. Poisson, 2017, Schizophrenia Research.

Molecular cloning of cDNA for rat L-type pyruvate kinase and aldolase B.

J. Marie, P. Chaumet‐Riffaud, A. Kahn, 1983, The Journal of biological chemistry.

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.

V. Blanquet, F. Doz, C. Turleau, 1995, Human molecular genetics.

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

A. Munnich, N. Boddaert, N. Bahi-Buisson, 2015, neurogenetics.

Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection.

C. Cazeneuve, S. Amselem, W. Lissens, 1999, American journal of human genetics.

Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions.

A. Munnich, S. Lyonnet, M. Clément-Ziza, 2008, RNA.

Potential of denaturing gradient gel electrophoresis for scanning of β‐thalassemia mutations in India

D. Mohanty, A. Pawar, R. Krishnamoorthy, 1999, American journal of hematology.

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency

A. Munnich, N. Boddaert, A. Rötig, 2020, Neuromuscular Disorders.

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy

P. Billuart, T. Bienvenu, M. Rio, 2017, Human mutation.

Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene.

M. Gross, V. Blanquet, F. Doz, 1994, Human molecular genetics.

Exclusion of WNT4 as a major gene in Rokitansky‐Küster‐Hauser anomaly

A. Munnich, S. Lyonnet, J. Picard, 2005, American journal of medical genetics. Part A.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

J. Rosenfeld, M. Shaw, J. Gécz, 2017, American journal of human genetics.

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

A. Munnich, R. Scharfmann, M. Polak, 2018, EMBO molecular medicine.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

R. Pfundt, H. Le Hir, P. Stoilov, 2017, American journal of human genetics.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.

Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling

J. Thiery, S. Lyonnet, D. Gentien, 2009 .

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.

M. Vidaud, M. Goossens, N. Ghanem, 1992, Genomics.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

A. Munnich, N. Boddaert, S. Hanein, 2019, Molecular Autism.

The structural gene for aldolase B (ALDB) maps to 9q13→32

C. Junien, D. Weil, M. Mattei, 1985, Annals of human genetics.

Homozygous tandem duplication within the gene encoding the β‐subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa

M. Bayés, S. Amselem, M. Baiget, 1995 .

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

A. Munnich, N. Boddaert, A. Rötig, 2014, Journal of Medical Genetics.

Mutations in BOREALIN cause thyroid dysgenesis

A. Munnich, R. Scharfmann, M. Polak, 2016, Human molecular genetics.

Dietary control of aldolase B and L-type pyruvate kinase mRNAs in rat. Study of translational activity and hybridization with cloned cDNA probes.

J. Marie, A. Kahn, A. Weber, 1984, The Journal of biological chemistry.

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Ye Htet Aung, A. Munnich, S. Petrou, 2019, Brain : a journal of neurology.

Biallelic IARS2 mutations presenting as sideroblastic anemia

A. Munnich, N. Boddaert, A. Rötig, 2020, Haematologica.

Mutations in the novel gene FOPV are associated with familial autosomal dominant and non‐familial obliterative portal venopathy

D. Valla, C. Guettier, E. Jacquemin, 2018, Liver international : official journal of the International Association for the Study of the Liver.

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

C. Métin, A. Munnich, J. Billard, 2020, Brain : a journal of neurology.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

S. Mehta, A. Rötig, C. Bönnemann, 2022, HGG advances.

A novel mutation in exon 17 of the β-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family

M. Bayés, M. Baiget, D. Grinberg, 2004, Human Genetics.

Analysis of fibrinogen genes in patients with congenital afibrinogenemia.

G. Courtois, M. Frain, A. Kahn, 1984, Biochemical and biophysical research communications.

Pathways systematically associated to Hirschsprung’s disease

A. Chakravarti, J. Dopazo, M. Bleda, 2013, Orphanet Journal of Rare Diseases.

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

A. Munnich, H. Prokisch, N. Boddaert, 2020, European journal of medical genetics.

Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing.

M. Gross, V. Blanquet, M. Goossens, 1993, Human Molecular Genetics.

DNA analysis in patients with hereditary fructose intolerance

A. Kahn, M. Odiévre, C. Besmond, 1984, Annals of human genetics.

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

A. Munnich, N. Boddaert, N. Bahi-Buisson, 2015, neurogenetics.

Cyclic AMP as a transcriptional inhibitor of upper eukaryotic gene transcription.

A. Munnich, G. Reach, P. Barbry, 1984, Biochemical and biophysical research communications.

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

A. Munnich, S. Bohlander, W. Wurst, 2021, Annals of neurology.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

A. Munnich, N. Boddaert, A. Rötig, 2014, Journal of Medical Genetics.

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

N. Brunetti‐Pierri, F. Alkuraya, G. Cappuccio, 2023, The Journal of clinical investigation.

Immunological screening of standard cDNA libraries in pBR322 vectors: detection of human fibrinogen and prothrombin cDNA clones.

R. Benarous, M. Frain, A. Kahn, 1984, Analytical biochemistry.

Control of Hepatic Gene Expression at Both Transcriptional and Posttranscriptional Levels by cAMP

A. Munnich, S. Vaulont, A. Kahn, 1986 .