S. Lyonnet

S. Lyonnet, M. Till, P. Edery, 1996, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.

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

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

Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis.

S. Lyonnet, D. Sanlaville, M. Girard, 2006, Journal of pediatric gastroenterology and nutrition.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

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

Clinical and molecular overlap in overgrowth syndromes

A. Munnich, S. Lyonnet, C. Gicquel, 2022 .

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

S. Saunier, C. Bole-Feysot, P. Nitschké, 2016, Human mutation.

An animal model for maternal phenylketonuria.

A. Munnich, S. Lyonnet, S. Nizard, 1991, Journal of medical genetics.

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.

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

A. Munnich, A. Toutain, S. Lyonnet, 1995, American journal of medical genetics.

Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)

S. Lyonnet, P. Divry, D. Rabier, 1994, Prenatal diagnosis.

Parieto-occipital grey matter abnormalities in children with Williams syndrome

Arnaud Cachia, Nathalie Boddaert, Monica Zilbovicius, 2006, NeuroImage.

PAX2 mutations in oligomeganephronia.

S. Lyonnet, M. Gubler, M. Vekemans, 2001, Kidney international.

Finger creases lend a hand in Kabuki syndrome.

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

A new case of exomphalos, short limbs, and macrogonadism syndrome

D. Cabrol, C. Fallet-Bianco, S. Lyonnet, 2001, Journal of medical genetics.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Pierre Robin sequence: a series of 117 consecutive cases.

A. Munnich, S. Lyonnet, V. Cormier-Daire, 2001, The Journal of pediatrics.

Mutations in BOREALIN cause thyroid dysgenesis

A. Munnich, R. Scharfmann, M. Polak, 2016, Human Molecular 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.

Academic Impairment is the Most Frequent Complication of Neurofibromatosis Type-1 (NF1) in Children

Arnold Munnich, A. Munnich, S. Lyonnet, 2006, Behavior genetics.

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

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

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

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

Tricuspid atresia and conotruncal malformations in five families

A. Munnich, S. Lyonnet, J. Amiel, 1999, Journal of medical genetics.

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

Y. Ville, N. Boddaert, P. Nitschké, 2018, American journal of medical genetics. Part A.

Clinical and genetic heterogeneity of Seckel syndrome.

A. Munnich, A. Verloes, S. Lyonnet, 2002, American journal of medical genetics.

Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion

L. Desjardins, O. Baud, S. Lyonnet, 1999, Clinical genetics.

Gorlin syndrome presenting as prenatal chylothorax in a girl

A. Munnich, S. Lyonnet, V. Cormier-Daire, 2005, Prenatal diagnosis.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2018, Genetics in Medicine.

Scalp‐ear‐nipple (Finlay–Marks) syndrome: a familial case with renal involvement

A. Munnich, R. Salomon, S. Lyonnet, 1999, Clinical genetics.

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.

A. Munnich, A. Vignal, S. Lyonnet, 1994, American journal of medical genetics.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

S. Julia, A. Afenjar, A. Toutain, 2021, European Journal of Human Genetics.

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).

Arnold Munnich, Michel Simonneau, François Guillemot, 2003, Human molecular genetics.

New case of interstitial deletion 12(q15‐q21.2) in a girl with facial dysmorphism and mental retardation

R. Redon, A. Munnich, S. Lyonnet, 2008, American journal of medical genetics. Part A.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

S. Leal, G. Courtois, A. Munnich, 2002, The Journal of investigative dermatology.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

S. Lyonnet, P. de Lonlay, D. Bonnet, 2009, Journal of Medical Genetics.

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.

Identification of novel L1CAM mutations using fluorescence‐assisted mismatch analysis

A. Munnich, N. Philip, N. Le Meur, 1998, Human mutation.

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.

A. Munnich, A. Rosenthal, S. Kenwrick, 1994, Human molecular 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.

321 Congenital heart defects in CHARGE syndrome patients with CHD7 mutations

S. Lyonnet, D. Bonnet, V. Abadie, 2010 .

PHOX2B gene mutation in a patient with late‐onset central hypoventilation

A. Munnich, S. Lyonnet, J. Amiel, 2004, Pediatric pulmonology.

Genetics and early disturbances of breathing control.

S. Lyonnet, J. Gallego, J. Amiel, 2004, Pediatric research.

Reply to Salviati et al.

J. Vermeesch, C. Eng, D. Stoppa-Lyonnet, 2006 .

Ultrastructural study of chronic lesions of erythema elevatum diutinum: "extracellular cholesterosis" is a misnomer.

Jean Kanitakis, S. Lyonnet, E. Cozzani, 1993, Journal of the American Academy of Dermatology.

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

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

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

A. Munnich, R. Salomon, C. Antignac, 2000, European Journal of Human Genetics.

Adams–Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?

S. Lyonnet, J. Amiel, D. Pariente, 2005, American journal of medical genetics. Part A.

Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.

A. Munnich, S. Lyonnet, J. Zlotogora, 1999, American journal of human genetics.

Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

S. Lyonnet, Y. Espinosa-Parrilla, J. Amiel, 2003, Neuropediatrics.

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

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

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

A. Munnich, N. Katsanis, P. Ernfors, 2015, American journal of human genetics.

Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome

C. Creuzot-Garcher, J. Thevenon, S. Lyonnet, 2015, American journal of medical genetics. Part A.

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

A. Munnich, S. Lyonnet, Y. Espinosa-Parrilla, 2004, Prenatal diagnosis.

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

S. Lyonnet, T. Kinoshita, M. Hully, 2021, Blood.

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

A. Munnich, S. Lyonnet, A. Moncla, 1993, American journal of human genetics.

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

A. Munnich, S. Lyonnet, Y. de Prost, 1992, Journal of medical genetics.

An automatic facial landmarking for children with rare diseases

N. Garcelon, Q. Hennocq, R. Khonsari, 2023, American journal of medical genetics. Part A.

Mitochondria as Novel Players of the Cellular RNA Interference

S. Hanein, S. Lyonnet, S. Bandiera, 2011, The Journal of Biological Chemistry.

Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.

A. Munnich, S. Lyonnet, M. Vekemans, 1997, American journal of medical genetics.

Pathways systematically associated to Hirschsprung’s disease

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

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients

S. Ragot, B. Gilbert-Dussardier, S. Lyonnet, 2020, Orphanet Journal of Rare Diseases.

Neurodevelopmental disorders (NDD) without boundaries: research and interventions beyond classifications

C. Laidi, M. Krebs, C. Barthélémy, 2023, Journal of neural transmission.

[Kabuki syndrome: Update and review].

M. Barat‐Houari, I. Touitou, S. Lyonnet, 2015, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness

C. Petit, F. Denoyelle, H. Blons, 2005, American journal of medical genetics. Part A.

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.

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.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2017, Genetics in Medicine.

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

D. Chaussabel, A. Munnich, J. Casanova, 2020, Journal of Clinical Immunology.

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.

[Contribution of genetics].

A. Munnich, S. Lyonnet, M. Vekemans, 1999, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49locus

R. Chadwick, A. de la Chapelle, R. Pyatt, 2001, Journal of medical genetics.

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 .

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

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

A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36

O. Rascol, R. Winter, P. Calvas, 2002, Journal of medical genetics.

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

Joana A. Vidigal, A. Munnich, S. Lyonnet, 2011, Nature Genetics.

Validation in zebrafish using CRISPR/Cas9 targeting confirmed the contribution of UFD1L, TBX2,

P. Tam, D. Tibboel, R. Hofstra, 2020 .

Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype

S. Lyonnet, F. Di Rocco, M. Rio, 2020, American journal of medical genetics. Part A.

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

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

Neurobehavioral profile and brain imaging study of 22q13.3 deletion syndrome

A. Munnich, M. Zilbovicius, N. Boddaert, 2008 .

Fraser syndrome without cryptophthalmos: Two cases.

B. van der Zwaag, M. Vogel, S. Lyonnet, 2020, European journal of medical genetics.

Commentary on emergence of hepatitis B virus S gene mutants in patients experiencing HBsAg seroconversion after peginterferon therapy

S. Alavian, A. Leutenegger, S. Lyonnet, 2011, Hepatology.

B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

A. Fischer, A. Munnich, C. Griscelli, 2001, Journal of medical genetics.

Further localization of X-linked hydrocephalus in the chromosomal region Xq28.

S. Warren, C. Broeckhoven, B. Wittwer, 1992, American journal of human genetics.

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

F. Denoyelle, D. Milea, N. Garcelon, 2023, Frontiers in pediatrics.

Hirschsprung disease, associated syndromes, and genetics: a review

S. Lyonnet, J. Amiel, 2001, Journal of medical 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.

Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.

A. Munnich, S. Lyonnet, P. Millasseau, 1993, Human Molecular Genetics.

A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf.

A. Smahi, A. Munnich, P. Guigue, 2011, European journal of medical genetics.

Nasal speech in patients with 12q15 microdeletions

G. Mortier, B. Menten, S. Lyonnet, 2011, European Journal of Human Genetics.

Genotype‐Phenotype Relationships

S. Lyonnet, J. Frézal, J. Feingold, 2006 .

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2013, Human Genetics.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

miR-122, a paradigm for the role of microRNAs in the liver.

A. Munnich, S. Lyonnet, M. Girard, 2008, Journal of hepatology.

Recombinant interferon alpha 2a is effective in the treatment of discoid and subacute cutaneous lupus erythematosus.

Jean Kanitakis, S. Lyonnet, J. Nicolas, 1990, The British journal of dermatology.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

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.

Cholinergic switch associated with morphological differentiation in neuroblastoma

O. Delattre, C. Lucchesi, S. Lyonnet, 2009, The Journal of pathology.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2008, Human mutation.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.

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

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

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

V. Lougaris, A. Plebani, S. Lyonnet, 2019, Nature Communications.

Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia

S. Lyonnet, A. Henrion-Caude, A. Sefiani, 2015, Molecular Syndromology.

Genetics of Congenitally Corrected Transposition of the Great Arteries: next generation sequencing shows a mutation load effect for 156 genes involved in cardiac patterning

A. Boland, J. Deleuze, S. Lyonnet, 2023, medRxiv.

[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.