A. Pelet

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Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

S. Antonarakis, R. Lyle, S. Gagos, 2009, European Journal of Human Genetics.

CENTRAL NERVOUS SYSTEM GENES TO THE DEVELOPMENT OF THE ENTERIC NERVOUS SYSTEM

Berta, Aravinda, Rutger, 2016 .

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

A. Munnich, R. Touraine, W. Doerfler, 2000, American journal of human genetics.

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

A. Munnich, L. Mulligan, C. Eng, 1995, Human molecular genetics.

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.

A. Munnich, R. Touraine, R. Salomon, 1998, Human molecular genetics.

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease

A. Munnich, S. Lyonnet, M. Shohat, 2007, European Journal of Human Genetics.

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

A. Munnich, R. Touraine, A. Toutain, 2001, American journal of human genetics.

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

A. Munnich, S. Antonarakis, N. Katsanis, 2007, Human mutation.

Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus

A. Munnich, S. Lyonnet, Y. Espinosa-Parrilla, 2005, Journal of Medical Genetics.

Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.

A. von Deimling, L. Mulligan, R. Salomon, 1999, Journal of medical genetics.

Investigation of germline GFRα-1 mutations in Hirschsprung disease

A. von Deimling, L. Mulligan, R. Salomon, 1999 .

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

A. Munnich, G. Lenoir, S. Lyonnet, 1998, The Journal of clinical investigation.

Expression of the RET proto-oncogene in human embryos.

A. Munnich, S. Lyonnet, M. Vekemans, 1998, American journal of medical genetics.

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

A. Munnich, R. Salomon, C. Eng, 1996, Nature Genetics.

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

Soo-Mi Park, M. Polak, P. Czernichow, 2002, Human molecular genetics.

Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease

A. Chakravarti, A. Munnich, S. Borrego, 2013, PloS one.

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome–Hirschsprung disease association

A. Chakravarti, S. Borrego, R. Hofstra, 2009, Human mutation.

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

A. Chakravarti, A. Munnich, S. Borrego, 2012, European Journal of Human Genetics.

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene

A. Munnich, D. Rabier, A. Pelet, 1991, Human Genetics.

GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

A. Munnich, M. Vidaud, D. Vidaud, 2001, Journal of medical genetics.

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

A. Munnich, S. Lyonnet, J. Amiel, 1995, Human molecular genetics.

[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease].

A. Munnich, R. Salomon, S. Lyonnet, 1997, Gastroenterologie clinique et biologique.

Rubinstein–Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

P. Fergelot, D. Lacombe, J. Mosnier, 2010, American journal of medical genetics. Part A.

Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)

M. Vidaud, I. Laurendeau, D. Vidaud, 2000, Journal of medical genetics.

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

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

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 1996, Hormone research.

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations

A. Toutain, N. Winer, A. Verloes, 2014, American journal of medical genetics. Part A.

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Arnold Munnich, Martine Le Merrer, A. Munnich, 1994, Nature.

A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

Jean Weissenbach, Arnold Munnich, Martine Le Merrer, 1994, Nature Genetics.

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

A. Munnich, R. Hofstra, R. Hofstra, 1996, Nature Genetics.

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

E. Grice, A. McCallion, A. Chakravarti, 2010, American journal of human genetics.

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

A. Munnich, H. R. Crollius, D. McBride, 2009, Nature Genetics.

Hirschsprung disease, associated syndromes and genetics: a review

A Chakravarti, G Burzynski, Erasmus Mc, 2001, Journal of Medical Genetics.

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

P. Tam, A. Munnich, D. Lacombe, 1996, Human molecular genetics.

Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

T. Molina, H. Smeets, R. Hofstra, 2021, The Journal of clinical investigation.

Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease

A. Munnich, R. Salomon, S. Lyonnet, 1997, European journal of human genetics : EJHG.

Action of the antiepileptic drug, valproic acid, on fatty acid oxidation in isolated rat hepatocytes.

G. Grimber, F. Coudé, Y. Benoît, 1983, Biochemical and biophysical research communications.

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

S. Leal, A. Munnich, P. Ferguson, 2005, Journal of Medical Genetics.

Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.

A. Munnich, S. Lyonnet, M. Till, 1995, Journal of medical genetics.

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

J. Weissenbach, A. Munnich, M. Devoto, 1993, Nature Genetics.

Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype–phenotype correlation

A. Munnich, Y. Révillon, S. Lyonnet, 2008, Human mutation.

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

P. Sham, P. Tam, A. Chakravarti, 2017, Genome Biology.

Title Whole exome sequencing coupled with unbiased functionalanalysis reveals new Hirschsprung disease genes

P. Sham, P. Tam, A. Chakravarti, 2017 .

Growth charts in Kabuki syndrome 1

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2019, American Journal of Medical Genetics. Part A.

with expression during human development truncating mutations correlates CHD7 fetuses with Phenotypic spectrum of CHARGE syndrome in

A. Munnich, C. Cruaud, M. Gonzalès, 2009 .

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

J. Weissenbach, A. Munnich, C. Cruaud, 2005, Journal of Medical Genetics.

Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

A. Munnich, S. Lyonnet, J. Amiel, 2003, American journal of medical genetics. Part A.

Mutations of the RET-GDNF signaling pathway in Ondine's curse.

A. Munnich, R. Salomon, S. Lyonnet, 1998, American journal of human genetics.

Segregation at three loci explains familial and population risk in Hirschsprung disease

Misha Angrist, Arnold Munnich, Aravinda Chakravarti, 2002, Nature Genetics.

Phenotype-genotype correlations in X linked retinitis pigmentosa.

P. Lefrançois, D. Bonneau, C. Martin, 1992, Journal of medical genetics.

Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases

M. Polak, P. Czernichow, S. Lyonnet, 2005, Pediatric Research.

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

A. Munnich, P. Briand, D. Rabier, 1992, Journal of medical genetics.

Mutations of the RET proto-oncogene in Hirschsprung's disease

B. Ponder, A. Munnich, L. Mulligan, 1994, Nature.

Contribution to carrier detection and genetic counselling in X linked retinoschisis.

A. Munnich, J. Dufier, H. Journel, 1991, Journal of medical genetics.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Seneca L. Bessling, A. McCallion, A. Munnich, 2009, Proceedings of the National Academy of Sciences.

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome

Raja Brauner, Arnold Munnich, Rémi Salomon, 2000, European Journal of Human Genetics.

[Genetics of Hirschsprung disease].

A. Munnich, R. Salomon, S. Lyonnet, 1996, Comptes rendus des seances de la Societe de biologie et de ses filiales.

Heterogeneity of the triple A syndrome and assessment of a case.

B. Peterlin, A. Pelet, L. Lovrečić, 2006, Genetic counseling.

A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12

J. Weissenbach, A. Munnich, S. Lyonnet, 1994, Nature Genetics.

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

P. Sham, P. Tam, A. Chakravarti, 2016, Human molecular genetics.

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

A. Chakravarti, S. Bolk, R. Hofstra, 2000, Proceedings of the National Academy of Sciences of the United States of America.

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.

B. Ponder, A. Munnich, L. Mulligan, 1994, Human molecular genetics.

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

L. Mulligan, D. Bonneau, L. Abel, 1994, Journal of medical genetics.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

A. Toutain, N. Philip, R. Salomon, 2013, The Journal of pediatrics.

Finger creases lend a hand in Kabuki syndrome.

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2013, European journal of medical genetics.

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

S. Lyonnet, S. Kmoch, U. Steuerwald, 2019, Human molecular genetics.

A novel polymorphism in the coding sequence of the human RET proto-oncogene

A. Munnich, L. Mulligan, C. Eng, 1994, Human Genetics.

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.

Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease

A. Munnich, M. Lathrop, F. Matsuda, 2005, Journal of Medical Genetics.

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.

C. Dubay, S. Lyonnet, A. Pelet, 1992, Genomics.

X-linked hydrocephalus: Clinical heterogeneity at a single gene locus

A. Munnich, S. Lyonnet, A. Pelet, 1992, European Journal of Pediatrics.

De-novo mutations of the RET proto-oncogene in Hirschsprung's disease

A. Munnich, C. Eng, S. Lyonnet, 1994, The Lancet.

[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.

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

D. Stoppa-Lyonnet, C. Houdayer, J. Couturier, 2012, European Journal of Human Genetics.

Potentiation by piridoxilate of the synthesis of hippurate from benzoate in isolated rat hepatocytes. An approach to the determination of new pathways of nitrogen excretion in inborn errors of urea synthesis.

G. Grimber, F. Coudé, M. Coudé, 1984, Clinica chimica acta; international journal of clinical chemistry.

Prenatal exclusion of X‐linked hydrocephalus‐stenosis of the aqueduct of sylvius sequence using closely linked DNA markers

P. Bénit, A. Munnich, S. Lyonnet, 1993, Prenatal diagnosis.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

Hirschsprung disease, associated syndromes and genetics : a review Jeanne AMIEL for the International Consortium on Hirschsprung Disease

Erasmus Mc, C. Kashuk, X. Miao, 2007 .

Hirschsprung disease , associated syndromes and genetics : a review

C. Kashuk, X. Miao, S. Borrego, 2007 .

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency

A. Munnich, C. Bonaïti‐pellié, D. Rabier, 2004, Human Genetics.

GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype.

S. Lyonnet, A. Pelet, M. Bahuau, 2001, Journal of medical genetics.

A probable sex difference in mutation rates in ornithine transcarbamylase deficiency

A. Munnich, C. Bonaïti‐pellié, J. Saudubray, 2004, Human Genetics.

The CAG repeat within the androgen receptor gene in male breast cancer patients

B. Assouline, I. Laurendeau, S. Lyonnet, 2000, Journal of medical genetics.

[Mutations of RET proto-oncogene in Hirschsprung disease].

B. Ponder, A. Munnich, L. Mulligan, 1994, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.