J. Bonnefont

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Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

C. Obie, D. Valle, D. Labuda, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Improving post-natal detection of mitochondrial DNA mutations

A. Munnich, A. Rötig, J. Steffann, 2020, Expert review of molecular diagnostics.

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

A. Smahi, C. Bodemer, A. Munnich, 2011, Human mutation.

Epilepsy with migrating focal seizures

N. Boddaert, S. Auvin, R. Nabbout, 2019, Neurology: Genetics.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

G. Bassez, Y. Péréon, Alexis Bertrand, 2018, Human mutation.

Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy.

Bernard Lacour, Joe Leigh Simpson, Jean-Philippe Jais, 2012, Reproductive biomedicine online.

Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN.

J. Melki, V. Joshi, Sabrina Courageot, 2006, Physiological genomics.

Myeloperoxidase Promoter Polymorphism −463G Is Associated With More Severe Clinical Expression of Cystic Fibrosis Pulmonary Disease

I. Sermet-Gaudelus, B. Descamps-Latscha, G. Lenoir, 2006, Mediators of inflammation.

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy

A. Munnich, A. Benachi, P. Burlet, 2010, European Journal of Human Genetics.

Post-mortem MRI reveals CPT2 deficiency after sudden infant death

L. Pontual, N. Sellier, J. Bonnefont, 2010, European Journal of Pediatrics.

Could Failure in Preimplantation Genetic Diagnosis Justify Editing the Human Embryo Genome?

N. Frydman, J. Steffann, H. Chneiweiss, 2018, Cell stem cell.

Diffuse and Focal Nesidioblastosis: A Clinicopathological Study of 24 Patients with Persistent Neonatal Hyperinsulinemic Hypoglycemia

G. Klöppel, J. Saudubray, J. Bonnefont, 1989, The American journal of surgical pathology.

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

C. Junien, F. Brunelle, J. Saudubray, 1997, The Journal of clinical investigation.

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

V. Desquiret-Dumas, D. Bonneau, P. Amati‐Bonneau, 2015, The international journal of biochemistry & cell biology.

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

A. Munnich, N. Boddaert, A. Rötig, 2010, Mitochondrion.

Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System

A. Munnich, N. Frydman, R. Frydman, 2010, Human mutation.

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

M. Polak, L. Mandelbrot, I. Desguerre, 2011, European journal of endocrinology.

Denaturing high‐performance liquid chromatography (DHPLC)‐based prenatal diagnosis for tuberous sclerosis

P. Bénit, A. Munnich, P. Ray, 2001, Prenatal diagnosis.

Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

P. Bénit, A. Munnich, J. Bonnefont, 2000, Human mutation.

Protein truncation test for screening hamartin gene mutations and report of new disease‐causing mutations

P. Bénit, A. Munnich, S. Hadj-Rabia, 1999, Human mutation.

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders

A. Munnich, J. Steffann, J. Bonnefont, 2014, European Journal of Human Genetics.

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.

C. Stanley, D. Hale, G. Berry, 1992, The New England journal of medicine.

Defects in activation and transport of fatty acids

D. Rabier, J. Saudubray, A. Slama, 1999, Journal of Inherited Metabolic Disease.

Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient

D. Rabier, J. Saudubray, P. Kamoun, 2000, Neuromuscular Disorders.

with Hepatomuscular Symptoms and Sudden Death Physiopathological Approach to Carnitine Palmitoyltransferase 11 Deficiencies

J. Saudubray, J. Bonnefont, C. Cepanec, 1991 .

Nasal polyposis and cystic fibrosis(CF): review of the literature.

C. Elie, B. Lacour, I. Sermet, 2011, Rhinology.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

Metabolic intermediates in lactic acidosis: compounds, samples and interpretation

A. Munnich, D. Rabier, P. Kamoun, 1996, Journal of Inherited Metabolic Disease.

Recognition and management of fatty acid oxidation defects: A series of 107 patients

D. Rabier, P. Kamoun, J. Saudubray, 1999, Journal of Inherited Metabolic Disease.

Protein and leucine metabolism in maple syrup urine disease.

J. Leonard, J. Saudubray, J. Bresson, 1990, The American journal of physiology.

Immunoquantitative Analysis of Human Carnitine Palmitoyltransferase I and II Defects

J. Saudubray, J. Bonnefont, F. Demaugre, 1990, Pediatric Research.

Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs?

R. Wanders, P. Laforêt, A. Strauss, 2006, Journal of Inherited Metabolic Disease.

Correction of Fatty Acid Oxidation in Carnitine Palmitoyl Transferase 2–Deficient Cultured Skin Fibroblasts by Bezafibrate

A. Munnich, J. Bonnefont, F. Djouadi, 2003, Pediatric Research.

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

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

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

J. Saudubray, J. Bonnefont, F. Demaugre, 1991, The Journal of clinical investigation.

Clinical outcome and long-term management of 17 patients with propionic acidaemia

D. Rabier, P. Parvy, P. Kamoun, 1996, European Journal of Pediatrics.

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

A. Munnich, N. Frydman, R. Fanchin, 2005, Journal of Medical Genetics.

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

A. Munnich, N. Frydman, R. Frydman, 2013, Human molecular genetics.

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

A. Munnich, S. Thibodeau, K. Devriendt, 2000, Human Genetics.

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

D. Valle, C. Stanley, P. Divry, 1991, Annals of neurology.

LOCALISATION OF FOCAL LESION PERMITTING PARTIAL PANCREATECTOMY IN INFANTS

F. Brunelle, S. Lyonnet, J. Saudubray, 1989, The Lancet.

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

A. Munnich, N. Boddaert, H. Esch, 2012, European Journal of Human Genetics.

Leigh‐like encephalopathy complicating Leber's hereditary optic neuropathy

A. Vighetto, D. Ranoux, P. Reynier, 2002, Annals of neurology.

RPL10 mutation segregating in a family with X‐linked syndromic Intellectual Disability

A. Munnich, P. Nitschké, J. Thevenon, 2015, American journal of medical genetics. Part A.

Molecular diagnostics of mitochondrial disorders.

A. Munnich, A. Rötig, E. Sarzi, 2004, Biochimica et biophysica acta.

Substrate disposal in metabolic disease: a comparison between rates of in vivo propionate oxidation and urinary metabolite excretion in children with methylmalonic acidemia.

J. Leonard, J. Saudubray, J. Bresson, 1989, The Journal of pediatrics.

Glutathione S-transferases related to P. aeruginosa lung infection in cystic fibrosis children: preliminary study.

M. Loriot, P. Beaune, B. Lacour, 2009, Clinical biochemistry.

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

J. Saudubray, J. Bonnefont, M. Brivet, 2003, Human mutation.

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns–Sayre syndrome

M. Argyropoulou, A. Zikou, J. Bonnefont, 2013, European Journal of Pediatrics.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

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

Clinical aspects of mitochondrial disorders

A. Munnich, P. Rustin, A. Rötig, 1992, Journal of Inherited Metabolic Disease.

Incidence and clinical features of X‐linked Cornelia de Lange syndrome due to SMC1L1 mutations

A. Munnich, L. Colleaux, G. Borck, 2007, Human mutation.

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5

E. Génin, F. Denoyelle, J. Bonnefont, 2018, Clinical genetics.

Tolerance to starvation in children on long-term total parenteral nutrition.

D. Rabier, O. Goulet, C. Ricour, 1997, Clinical nutrition.

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset.

P. Rustin, D. Rabier, P. Parvy, 1991, The Journal of pediatrics.

In vivo propionate oxidation as a prognostic indicator in disorders of propionate metabolism

J. Leonard, J. Saudubray, J. Bresson, 1990, European Journal of Pediatrics.

Multiple displacement amplification improves PGD for fragile X syndrome.

A. Munnich, N. Frydman, R. Frydman, 2006, Molecular human reproduction.

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia

A. Munnich, S. Lyonnet, D. Rabier, 1995, Prenatal diagnosis.

Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum.

D. Galanaud, N. Weiss, M. Rudler, 2017, Journal of hepatology.

Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis

D. Rabier, P. Kamoun, J. Saudubray, 2000, Journal of Inherited Metabolic Disease.

Functional and Structural Basis of Carnitine Palmitoyltransferase 1A Deficiency*

L. Tong, J. Girard, J. Bonnefont, 2003, Journal of Biological Chemistry.

Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

N. Boddaert, R. Barouki, L. Le Moyec, 2014, Molecular genetics and metabolism reports.

Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship.

A. Munnich, J. Harpey, J. Bonnefont, 1998, American journal of medical genetics.

The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states

A. Munnich, J. Saudubray, A. Lombès, 1990, European Journal of Pediatrics.

Bezafibrate for an inborn mitochondrial beta-oxidation defect.

A. Béhin, J. Bonnefont, F. Djouadi, 2009, The New England journal of medicine.

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.

A. Munnich, A. Rötig, J. Steffann, 2007, Molecular genetics and metabolism.

Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts.

A. Munnich, J. Bonnefont, F. Djouadi, 2003, Molecular genetics and metabolism.

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

A. Munnich, P. Rustin, A. Rötig, 1995, Neuromuscular Disorders.

Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy.

A. Munnich, N. Frydman, R. Frydman, 2005, Fertility and sterility.

Genetic characterisation of circulating fetal cells allows non‐invasive prenatal diagnosis of cystic fibrosis

A. Munnich, A. Benachi, B. Lacour, 2006, Prenatal diagnosis.

Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.

D. Rabier, P. Kamoun, J. Saudubray, 1989, Clinica chimica acta; international journal of clinical chemistry.

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

J. Saudubray, T. Attié-Bitach, J. Bonnefont, 2003, Prenatal diagnosis.

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

F. Taroni, J. Saudubray, J. Bonnefont, 1996, American journal of human genetics.

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

S. Donato, J. Saudubray, M. Rimoldi, 1988, Pediatric Research.

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

R. Barouki, A. Servais, P. de Lonlay, 2015, Orphanet Journal of Rare Diseases.

Clinical presentation of mitochondrial disorders in childhood

T. Bourgeron, A. Munnich, P. Rustin, 1996, Journal of Inherited Metabolic Disease.

Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts Tissue specific isoforms of CPT1?

I. Tein, J. Saudubray, J. Bonnefont, 1989, Journal of the Neurological Sciences.

NDP gene mutations in 14 French families with Norrie disease

A. Munnich, S. Hanein, J. Steffann, 2003, Human mutation.

CFTR genotypes in patients with normal or borderline sweat chloride levels

C. Clavel, M. Claustres, C. Férec, 2003, Human mutation.

Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

J. Girard, C. Greenberg, P. Kamoun, 2001, Molecular genetics and metabolism.

Father‐to‐daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of the NIPBL Gene

A. Munnich, C. Cluzeau, E. Bal, 2006, Human mutation.

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

A. Munnich, N. Frydman, R. Frydman, 2011, American journal of human genetics.

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans.

A. Munnich, N. Frydman, R. Frydman, 2014, Cell reports.

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.

A. Munnich, J. Bonnefont, F. Djouadi, 2004, Molecular aspects of medicine.

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency

A. Munnich, J. Steffann, B. Chadefaux-Vekemans, 2009, Human Mutation.

Approach to the patient with a fatty acid oxidation disorder.

A. Munnich, D. Rabier, J. Saudubray, 1992, Progress in clinical and biological research.

Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.

J. Thompson, C. Greenberg, C. Prasad, 2001, Molecular genetics and metabolism.

Autism spectrum disorders in propionic acidemia patients

L. Ouss, A. Brassier, J. Bonnefont, 2018, Journal of Inherited Metabolic Disease.

Carnitine palmitoyltransferase deficiencies.

J. Saudubray, J. Bonnefont, J M Saudubray, 1999, Molecular genetics and metabolism.

MINIREVIEW Carnitine Palmitoyltransferase Deficiencies

J. Saudubray, J. Bonnefont, C. Prip-Buus, 1999 .

Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.

A. Munnich, R. Wanders, D. Rabier, 1992, Biochemical and biophysical research communications.

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

A. Smahi, C. Bodemer, O. Chosidow, 2016, Journal of the European Academy of Dermatology and Venereology : JEADV.

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

A. Benachi, M. Vekemans, J. Bonnefont, 2007, Human reproduction.

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

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

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

N. Boddaert, D. Rabier, I. Desguerre, 2013, Orphanet Journal of Rare Diseases.

Should the chromosome region 15q11q13 be tested systematically by FISH in the case of an autistic‐like syndrome?

F. Terro, C. Yardin, J. Bonnefont, 2002, Clinical genetics.

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

R. Salomon, A. Servais, P. de Lonlay, 2017, Human pathology.

OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

A. Munnich, F. Reyal, J. Steffann, 2021, Journal of inherited metabolic disease.

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.

D. Rabier, P. Parvy, P. Kamoun, 1994, The Journal of pediatrics.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

A. Munnich, P. Lapunzina, V. Cormier-Daire, 2018, Journal of Medical Genetics.

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

M. Vekemans, B. Aral, F. Encha-Razavi, 2008, Prenatal diagnosis.

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.

Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children

S. Scherer, L. Pérez-Jurado, K. Gripp, 2005, Human Genetics.

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF‐&kgr;B activation and leads to incontinentia pigmenti

A. Smahi, C. Bodemer, A. Munnich, 2017, The Journal of allergy and clinical immunology.

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

A. Smahi, A. Munnich, S. Kenwrick, 2004, Prenatal diagnosis.

Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood.

Bernard Lacour, Christophe Béroud, C. Béroud, 2002, The American journal of pathology.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder

N. Boddaert, L. Robel, A. Philippe, 2015, BMC Psychiatry.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

L. Pasquier, L. Faivre, S. Blesson, 2016, Clinical genetics.

Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

A. Smahi, C. Bodemer, A. Munnich, 2014, Human mutation.

Three‐dimensional ultrasound prenatal diagnosis of congenital ichthyosis: contribution of molecular biology

S. Mallet, A. Hovnanian, J. Bonnefont, 2012, Prenatal diagnosis.

A Multisystem Mitochondrial Disorder in Infancy

A. Munnich, N. Romero, J. Saudubray, 1990 .

Refined characterization of the expression and stability of the SMN gene products.

J. Melki, Jeremie Vitte, C. Brahe, 2007, The American journal of pathology.

Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?

G. Montalescot, P. Kamoun, B. Chadefaux-Vekemans, 1998, Journal of Inherited Metabolic Disease.

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

G. Pinto, A. Servais, P. de Lonlay, 2017, Orphanet Journal of Rare Diseases.

detection method, non-invasive prenatal in vitro of normal healthy state, the healthy carrier state or the state of patient for cystic fibrosis carrier

I. Desitter, J. Bonnefont, A. Saker, 2005 .

[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions].

A. Munnich, R. Fanchin, P. Burlet, 2011, Bulletin de l'Academie nationale de medecine.

Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes.

C. Houdayer, T. Billette de Villemeur, J. Bonnefont, 2002, Genetic testing.

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form

A. Smahi, C. Bodemer, A. Munnich, 2014, Human Genetics.

Clinical approach to inherited metabolic disorders in neonates.

A. Munnich, J. Saudubray, J. Bonnefont, 1990, Biology of the neonate.

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α‐ketoglutarate dehydrogenase deficiency

Arnold Munnich, A. Munnich, P. Rustin, 2005, Human mutation.

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency

C. Stanley, D. Hale, J. Saudubray, 1992, Journal of Inherited Metabolic Disease.

Hyperketotic states due to inherited defects of ketolysis.

J. Saudubray, A. Lombès, C. Jakobs, 1987, Enzyme.

Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

S. Cederbaum, W. Nyhan, J. Girard, 2002, Human Genetics.

Clinical Utility Gene Card for: incontinentia pigmenti

F. Fusco, J. Steffann, A. Pescatore, 2012, European Journal of Human Genetics.

Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations.

A. Smahi, C. Bodemer, S. Hadj-Rabia, 2011, Journal of the American Academy of Dermatology.

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

A. Munnich, A. Bernheim, M. Vekemans, 2013, Clinical genetics.

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

A. Munnich, A. Toutain, M. Vekemans, 2010, European Journal of Human Genetics.

Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

D. Rabier, P. Kamoun, J. Saudubray, 1989, American journal of medical genetics.

Organic acids in aqueous humour and plasma: Post mortem study in infants and diagnosis of enzymopathies

P. Kamoun, G. Chéron, J. Bonnefont, 1991, Journal of Inherited Metabolic Disease.

Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis

P. Kamoun, J. Saudubray, J. Bonnefont, 1989, Journal of Inherited Metabolic Disease.

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

A. Munnich, A. Toutain, H. Dollfus, 2007, Human mutation.

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

J. Sahel, P. Calvas, M. Claustres, 2013, Ophthalmic epidemiology.

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders

A. Munnich, Y. Ville, A. Rötig, 2020, Genetics in Medicine.

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

A. Munnich, A. Rötig, C. Bole-Feysot, 2012, Molecular genetics and metabolism.

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

A. Munnich, S. Lyonnet, V. Cormier-Daire, 2001, Journal of medical genetics.

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

A. Munnich, F. Denoyelle, D. Lacombe, 2016, Human mutation.

Biallelic IARS2 mutations presenting as sideroblastic anemia

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

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

M. Durán, P. Divry, J. Saudubray, 1988, Journal of Inherited Metabolic Disease.

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

A. Munnich, N. Boddaert, A. Rötig, 2019, Molecular genetics and metabolism reports.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

A. Munnich, N. Boddaert, A. Rötig, 2020, Human mutation.

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

A. Munnich, S. Hanein, P. Nitschké, 2011, European Journal of Human Genetics.

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

A Vassault, A. Munnich, P. Rustin, 1992, The Journal of pediatrics.

Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation.

D. Ranoux, B. Funalot, J. Mas, 1996, Journal of neurology, neurosurgery, and psychiatry.

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development

J. Steffann, J. Bonnefont, S. Monnot, 2015, Clinical genetics.

[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form].

J. Frézal, J. Saudubray, J. Bonnefont, 1985, Archives francaises de pediatrie.

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells

A. Munnich, J. Steffann, A. Rotig, 2017, Journal of Medical Genetics.

Pattern dystrophy in a female carrier of RP2 mutation

C. Hamel, J. Bonnefont, I. Meunier, 2016, Ophthalmic genetics.

Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France

A. Munnich, D. Pessayre, B. Fromenty, 1996, Human Genetics.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

R. Touraine, C. Elie, J. Auger, 2016, Hormone Research in Paediatrics.

Un test de la sueur normal n'exclut pas le diagnostic de mucoviscidose

J. Bonnefont, I. Sermet-Gaudelus, Gérard Lenoir, 2000 .

Bilateral amastia in a female with X‐linked hypohidrotic ectodermal dysplasia

C. Bodemer, S. Hadj-Rabia, J. Bonnefont, 2014, The British journal of dermatology.

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR.

A. Munnich, N. Frydman, R. Frydman, 2005, Molecular genetics and metabolism.

Expanding the clinical spectrum of MTTF mutations

A. Munnich, N. Boddaert, A. Rötig, 2019, Molecular genetics and metabolism reports.

Keratotic follicular plugs with calcifications in Conradi–Hünermann–Happle syndrome: histological, biochemical and genetic testing correlation

C. Bodemer, D. Bozon, S. Hadj-Rabia, 2015, The British journal of dermatology.

[Association of an uncombable hair syndrome and Wilson's disease].

J. Bonnefont, J. Guilaine, J. Gonin, 1984, Annales de pediatrie.

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders

A. Munnich, Y. Ville, C. Elie, 2017, Journal of Medical Genetics.

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.

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X‐linked intellectual disability with distinctive facial appearance

A. Munnich, N. Boddaert, L. Colleaux, 2013, American Journal of Medical Genetics. Part A.

Clinical utility gene card: for incontinentia pigmenti

F. Fusco, J. Steffann, A. Pescatore, 2019, European Journal of Human Genetics.

Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus

A. Munnich, J. Steffann, M. Raynaud, 2019, Prenatal diagnosis.

Chronology of reported denaturing high performance liquid chromatography (DHPLC)‐based prenatal diagnoses

P. Bénit, A. Munnich, P. Ray, 2003, Prenatal diagnosis.

O▪26 Preimplantation diagnosis of the NARP mitochondrial DNA mutation

A. Munnich, N. Frydman, R. Frydman, 2005 .

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

A. Smahi, C. Bodemer, A. Munnich, 2011, Human mutation.

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency

A. Munnich, J. Steffann, B. Chadefaux-Vekemans, 2009, Human mutation.

Pathophysiological approach to carnitine palmitoyltransferase II deficiencies.

J. Saudubray, J. Bonnefont, M. Brivet, 1992, Progress in clinical and biological research.

A new pitfall in plasma amino acid analysis.

D. Rabier, P. Parvy, P. Kamoun, 1989, Clinical chemistry.

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

A. Munnich, N. Boddaert, A. Rötig, 2020, European Journal of Human Genetics.

Clinical utility gene card: for incontinentia pigmenti

F. Fusco, J. Steffann, A. Pescatore, 2019, European Journal of Human Genetics.

Diaphragmatic Weakness With Progressive Sensory and Motor Polyneuropathy

S. Quijano-roy, I. Desguerre, J. Bergounioux, 2013, Journal of child neurology.