V. Cormier-Daire

发表

In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome

A. Munnich, S. Bellais, C. L. Goff, 2010, European Journal of Human Genetics.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

A. Munnich, C. Orssaud, S. Hanein, 2012, American journal of human genetics.

Ciliary disorder of the skeleton

V. Cormier-Daire, C. Huber, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome

N. Dagoneau, V. Cormier-Daire, J. Laville, 2010, American journal of medical genetics. Part A.

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

A. Munnich, N. Boddaert, P. Beales, 2012, Journal of Medical 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.

Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia

V. Cormier-Daire, Alessandra Guasto, 2021, International journal of molecular sciences.

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Pierre Lindenbaum, Christian Dina, Laurence Faivre, 2011, Nature Genetics.

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

M. Brown, E. Duncan, C. Bole-Feysot, 2016, Journal of Medical Genetics.

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Colin A. Johnson, M. Huynen, D. Birnbaum, 2017, Journal of Medical Genetics.

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

J. Steffann, M. Vekemans, L. Colleaux, 2016, Clinical 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.

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

A. Munnich, M. Vekemans, M. D. de Blois, 2003, Journal of medical genetics.

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Alex Magee, Erik A Sistermans, Jean-Pierre Fryns, 2006, American journal of human genetics.

Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome

U. Arslan, V. Cormier-Daire, A. Alikaşifoğlu, 2019, American journal of medical genetics. Part A.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

A. Afenjar, N. Philip, A. Verloes, 2010, Journal of Medical Genetics.

Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia

E. Mayatepek, V. Cormier-Daire, L. Neumann, 2006, American journal of medical genetics. Part A.

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

Arnold Munnich, A. Munnich, L. Ribeiro, 2003, Human Genetics.

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

G. Mortier, R. Tenconi, S. Mrusek, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Progressive polyepiphyseal dysplasia with arthropathy: A distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?

C. Le Caignec, B. Isidor, B. Bader-Meunier, 2012, American Journal of Medical Genetics. Part A.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

A. Munnich, A. Mégarbané, F. Clerget-Darpoux, 2015, American journal of human genetics.

Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias

R. Hennekam, E. Tobias, G. Mortier, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

A. Munnich, N. Boddaert, I. Desguerre, 2016, neurogenetics.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

J. Tolmie, E. Tobias, B. Gener, 2010, Human mutation.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of Human Genetics.

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or “deletion with positional effect” syndrome?

R. Redon, N. Carter, H. Fiegler, 2005, Journal of Medical Genetics.

A new osteogenesis imperfecta with improvement over time maps to 11q

A. Munnich, S. Pannier, V. Cormier-Daire, 2008, American journal of medical genetics. Part A.

Phenotypes and genotypes in individuals with SMC1A variants

Saskia M. J. Hopman, I. Krantz, D. Horn, 2017, American journal of medical genetics. Part A.

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

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

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

A. Munnich, P. Rustin, A. Rötig, 1999, European Journal of Pediatrics.

Prenatal diagnosis in CDG1 families: beware of heterogeneity

E. Schaftingen, G. Matthijs, J. Cassiman, 1998, European Journal of Human Genetics.

Antenatal manifestations of mitochondrial respiratory chain deficiency.

A. Munnich, F. Brunelle, P. Rustin, 2003, The Journal of pediatrics.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

M. Holtgrewe, C. Gonzaga-Jauregui, J. Overton, 2020, Bone.

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Arnold Munnich, Patrick Nitschke, Alice Goldenberg, 2012, American journal of human 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.

Brain and skull base MRI findings in patients with Ollier-Maffucci disease: A series of 12 patient-cases

H. Duffau, E. Mandonnet, T. Roujeau, 2017, Clinical Neurology and Neurosurgery.

A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.

A. Fischer, J. Casanova, C. Picard, 2004, Pediatrics.

Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation.

A. Munnich, P. Rustin, A. Rötig, 1997, The Journal of pediatrics.

[Craniofacial strategy for syndromic craniosynostosis].

R. Khonsari, É. Arnaud, V. Cormier-Daire, 2016, Annales de chirurgie plastique et esthetique.

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

A. Munnich, R. Trembath, A. Verloes, 2003, Human molecular genetics.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

J. Schuurs-Hoeijmakers, N. de Leeuw, E. Bongers, 2011, 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.

From tall to short: The role of TGFβ signaling in growth and its disorders

V. Cormier-Daire, C. Le Goff, Carine Le Goff, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

D. Sillence, A. Munnich, J. Melki, 2009, European Journal of Human Genetics.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

B. Gilbert-Dussardier, C. Rooryck, C. Bénéteau, 2017, European Journal of Human Genetics.

Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients.

M. Polak, V. Cormier-Daire, M. le Merrer, 2014, European journal of endocrinology.

Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort

M. Polak, G. Pinto, J. Souberbielle, 2014, Hormone Research in Paediatrics.

Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short stature.

M. Polak, J. Souberbielle, V. Cormier-Daire, 2014, European journal of endocrinology.

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence

J. Sosna, J. Bar-ziv, A. Raas-Rothschild, 2011, Pediatric Radiology.

Clinical and Radiological Characteristics of 22 Children with SHOX Anomalies and Familial Short Stature Suggestive of Léri-Weill Dyschondrosteosis

V. Cormier-Daire, M. Nicolino, C. Huber, 2011, Hormone Research in Paediatrics.

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.

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

A. Munnich, R. Gorlin, G. Collod-Béroud, 2003, Journal of medical genetics.

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

A. Munnich, S. Lyonnet, C. Gicquel, 2004, American journal of human genetics.

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments

A. Burgun, N. Garcelon, A. Neuraz, 2020, Orphanet journal of rare diseases.

Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.

P. Codogno, V. Cormier-Daire, P. de Lonlay, 2000, Glycobiology.

Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis

V. Cormier-Daire, J. Dubail, 2021, Frontiers in Genetics.

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.

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

N. Rahman, R. Scott, J. Birch, 2007, Journal of Medical Genetics.

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

N. Rahman, D. Horn, Soma Das, 2005, American journal of human genetics.

Sotos syndrome

V. Cormier-Daire, G. Baujat, 2007, Orphanet journal of rare diseases.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

M. Polak, N. Boddaert, A. Brice, 2017, Journal of Medical Genetics.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

The first European consensus on principles of management for achondroplasia

G. Mortier, M. Maghnie, M. Irving, 2021, Orphanet Journal of Rare Diseases.

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

N. Rahman, S. Huson, S. Mansour, 2007, Nature Genetics.

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

A. Munnich, N. Dagoneau, V. Cormier-Daire, 2004, Journal of Medical Genetics.

Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.

A. Munnich, V. Cormier-Daire, T. Dupré, 2001, Clinical chemistry.

Respiratory chain deficiency presenting as congenital nephrotic syndrome

A. Munnich, P. Rustin, A. Rötig, 2005, Pediatric Nephrology.

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

A. Munnich, S. Lyonnet, M. Vekemans, 2002, Journal of medical genetics.

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

A. Munnich, S. Lyonnet, S. Romana, 2001, European Journal of Human Genetics.

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

B. Zabel, V. Cormier-Daire, A. Superti-Furga, 2009, American journal of human genetics.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

S. Seal, N. Rahman, I. Temple, 2013, American journal of medical genetics. Part A.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

L. Faivre, H. Dollfus, P. Jonveaux, 2010, Journal of Medical Genetics.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

A. Munnich, A. Mégarbané, L. Faivre, 2004, American journal of human genetics.

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

A. Munnich, D. Cavalcanti, S. Smithson, 2009, American journal of human genetics.

C 14 ORF 179 encoding IFT 43 is mutated in Sensenbrenner syndrome

J. Schuurs-Hoeijmakers, E. Bongers, H. Brunner, 2019 .

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Na Zhu, 2014, American journal of human genetics.

Identification of CANT1 mutations in Desbuquois dysplasia.

A. Munnich, S. Robertson, G. Mortier, 2009, American journal of human genetics.

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

D. Sillence, A. Munnich, J. Clayton-Smith, 2012, Human mutation.

The mutation spectrum in RECQL4 diseases

R. Hennekam, S. Plon, A. Verloes, 2009, European Journal of Human Genetics.

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

The male phenotype in osteopathia striata congenita with cranial sclerosis

S. Robertson, R. Nash, M. Porteous, 2011, American journal of medical genetics. Part A.

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

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

Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

C. Bodemer, S. Hadj-Rabia, V. Cormier-Daire, 2013, American journal of medical genetics. Part A.

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

A. Fischer, J. Casanova, C. Picard, 2008, The Journal of experimental medicine.

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

A. Munnich, J. Bonaventure, J. Moreau, 2004, American journal of human genetics.

Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

E. Zackai, G. Matherne, J. Krier, 2016, American journal of medical genetics. Part A.

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.

A. Munnich, L. Hertz-Pannier, F. Brunelle, 2000, The Journal of pediatrics.

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

A. Munnich, C. Farra, A. Verloes, 2009, Journal of Medical Genetics.

Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families

A. Munnich, C. Farra, A. Verloes, 2009 .

Optimising care and follow-up of adults with achondroplasia

G. Mortier, M. Maghnie, M. Irving, 2022, Orphanet Journal of Rare Diseases.

Natural history of Myhre syndrome

N. Boddaert, N. Garcelon, D. Hervé, 2022, Orphanet Journal of Rare Diseases.

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

G. Mortier, M. Maghnie, C. Garel, 2022, Orphanet Journal of Rare Diseases.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

A. Munnich, Y. Crow, D. Krakow, 2008, Nature Genetics.

Sulphate transporter gene mutations in apparently isolated club foot

A. Munnich, V. Cormier-Daire, S. Odent, 2001, Journal of Medical Genetics.

Clinical and genetic heterogeneity in Desbuquois dysplasia

A. Munnich, K. Zerres, L. Faivre, 2004, American journal of medical genetics. Part A.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

G. Mortier, A. Offiah, Jacqueline A Taylor, 2011, Human mutation.

Desbuquois dysplasia, a reevaluation with abnormal and “normal” hands: Radiographic manifestations

A. Munnich, L. Faivre, V. Cormier-Daire, 2004, American journal of medical genetics. Part A.

Clinical and molecular overlap in overgrowth syndromes

A. Munnich, S. Lyonnet, C. Gicquel, 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

R. Redon, N. Carter, S. Lyonnet, 2004, Journal of Medical Genetics.

Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome

H. Dollfus, I. Desguerre, J. Egly, 2008, European Journal of Human Genetics.

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

A. Munnich, G. Mortier, G. Scarano, 2012, Journal of Medical Genetics.

XYLT1 mutations in Desbuquois dysplasia type 2.

A. Munnich, G. Mortier, C. Bole-Feysot, 2014, American journal of human genetics.

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

Leah R. Padgett, M. Econs, P. Quartier, 2010, American journal of medical genetics. Part A.

Metalloproteinases and their inhibitors in the pathophysiology of heritable connective tissue disorders: current evidence

C. L. Goff, V. Cormier-Daire, Laure Delhon, 2016 .

S. Mehta, A. Offiah, K. Rosendahl, 2019, American journal of medical genetics. Part A.

Search for a gene responsible for Floating‐Harbor syndrome on chromosome 12q15q21.1

D. Lacombe, L. Faivre, C. Thauvin-Robinet, 2012, American journal of medical genetics. Part A.

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency

Nicolas Goudin, V. Cormier-Daire, C. Le Goff, 2018, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

N. Lévy, D. Amor, V. Cormier-Daire, 2013, European Journal of Human Genetics.

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

A. Munnich, D. Cavalcanti, M. Vekemans, 2009, Journal of Medical Genetics.

OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

A. Munnich, H. Stewart, J. Michaud, 2010, Human mutation.

Nosology and classification of genetic skeletal disorders: 2015 revision

Sheila Unger, Stefan Mundlos, Luca Sangiorgi, 2015, American journal of medical genetics. Part A.

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.

V. Cormier-Daire, C. Huber, L. Van Maldergem, 2019, European journal of medical genetics.

Mutations in IFT80 cause SRPS Type IV. Report of two families and review

J. Roume, V. Cormier-Daire, T. Attié-Bitach, 2019, American journal of medical genetics. Part A.

Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification

J. Schwartz, K. Tian, M. Biggiogera, 2019, Matrix biology : journal of the International Society for Matrix Biology.

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals

V. Cormier-Daire, T. Attié-Bitach, C. Huber, 2022, Journal of Medical Genetics.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

A. Munnich, R. Salomon, B. Estournet, 2013, Journal of Medical Genetics.

molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum

A. Munnich, D. Cavalcanti, M. Vekemans, 2009 .

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American journal of human genetics.

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.

P. Gressens, J. Sibarita, P. Rustin, 2009, Human Molecular Genetics.

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

A. Zinn, N. S. Thomas, J. Ross, 2016, Journal of Human Genetics.

Another observation with VATER association and a complex IV respiratory chain deficiency.

A. Munnich, P. Rustin, A. Rötig, 2006, European journal of medical genetics.

Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature

A. Munnich, V. Cormier-Daire, J. Feingold, 2008, American journal of medical genetics. Part A.

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

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

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

V. Drouin‐Garraud, T. Frebourg, G. Matthijs, 2000, American journal of medical genetics.

Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity

A. Munnich, A. Mégarbané, B. Hamel, 2010, Clinical genetics.

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

A. Munnich, L. Al-Gazali, S. Bellais, 2007, American journal of human genetics.

Spondylo-epi-metaphyseal dysplasia.

V. Cormier-Daire, 2008, Best practice & research. Clinical rheumatology.

Schimke immunoosseous dysplasia: suggestions of genetic diversity

C. Cancrini, C. Boerkoel, J. Ehrich, 2007, Human mutation.

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

E. van Binsbergen, N. Matsumoto, S. Saitoh, 2022, Journal of Medical Genetics.

Significant contribution of intragenic deletions to ARID1B mutation spectrum

A. Afenjar, N. Philip, V. Cormier-Daire, 2019, Genetics in Medicine.

Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum

A. Benachi, K. Briot, V. Cormier-Daire, 2022, Orphanet Journal of Rare Diseases.

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

A. Munnich, G. Pinto, L. Faivre, 2005, European Journal of Human Genetics.

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

J. Bonaventure, L. Gibbs, B. Zabel, 2006, European Journal of Human Genetics.

Facial appearance in persistent hyperinsulinemic hypoglycemia.

C. Junien, F. Brunelle, J. Saudubray, 2002, American journal of medical genetics.

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.

A. Munnich, R. Marianowski, F. Brunelle, 2001, American journal of medical genetics.

Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome

A. Munnich, J. Bonaventure, D. Rénier, 1999, European Journal of Human Genetics.

Oral Phenotype of Singleton–Merten Syndrome: A Systematic Review Illustrated With a Case Report

M. de La Dure-Molla, B. Fournier, S. Kerner, 2022, Frontiers in Genetics.

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

A. Munnich, D. Lacombe, S. Lyonnet, 2003, Journal of medical genetics.

New insights in congenital bowing of the femora

A. Munnich, V. Cormier-Daire, M. le Merrer, 2004, Clinical genetics.

The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability

L. Faivre, P. Quartier, V. Cormier-Daire, 2013, American journal of medical genetics. Part A.

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

A. Munnich, A. Rötig, V. Cormier-Daire, 2007, The Journal of pediatrics.

Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency

P. Rustin, J. Harpey, G. Ponsot, 1998, Journal of Inherited Metabolic Disease.

Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency

A. Munnich, P. Rustin, A. Rötig, 2000 .

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1998, American journal of human genetics.

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

A. Munnich, N. Philip, D. Rimoin, 2003, Journal of medical genetics.

“Duplicate calcaneus”: a rare developmental defect observed in several skeletal dysplasias

D. Rimoin, V. Cormier-Daire, R. Savarirayan, 2001, Pediatric Radiology.

Fibroblasts derived from patients with opsismodysplasia display SHIP2‐specific cell migration and adhesion defects

C. Erneux, V. Cormier-Daire, M. Wright, 2017, Human mutation.

Genetic homogeneity of the Camurati–Engelmann disease

A. Munnich, N. Dagoneau, V. Cormier-Daire, 2000, Clinical genetics.

Identification of 23 TGFBR 2 and 6 TGFBR 1 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, 2019 .

Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies

A. Afenjar, E. Colin, V. Cormier-Daire, 2020, Journal of inherited metabolic disease.

Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone.

U. Kornak, F. Jouret, O. Devuyst, 2005, Journal of the American Society of Nephrology : JASN.

LIFR (leukemia inhibitory factor receptor alpha)

N. Dagoneau, V. Cormier-Daire, 2011 .

Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.

N. Dagoneau, V. Cormier-Daire, J. Corona-Rivera, 2009, European journal of medical genetics.

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

A. Munnich, P. Rustin, S. Lyonnet, 1998, American journal of medical genetics.

TCTN3 mutations cause Mohr-Majewski syndrome.

Colin A. Johnson, A. Munnich, Y. Ville, 2012, American journal of human genetics.

Mild phenotype in a 15‐year‐old boy with Pallister–Killian syndrome

A. Munnich, L. Faivre, S. Romana, 2003, American journal of medical genetics. Part A.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation

D. Legrand, V. Cormier-Daire, F. Foulquier, 2022, Human genetics.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia

G. Pazour, J. Rivière, J. Thevenon, 2016, Clinical genetics.

Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease

A. Munnich, A. Verloes, L. Faivre, 2001, Human Genetics.

SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation

D. Legrand, V. Cormier-Daire, F. Foulquier, 2022, Human Genetics.

Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.

A. Munnich, S. Lyonnet, V. Cormier-Daire, 1997, American journal of medical genetics.

Mutations of the RTEL1 Helicase in a Hoyeraal‐Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain

J. Soulier, P. Revy, T. Leblanc, 2016, Human mutation.

An intermediate phenotype in IDH related enchondromatosis spectrum.

V. Cormier-Daire, Pauline Marzin, Elif Yilmaz-Gulec, 2023, European journal of medical genetics.

Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method

N. Garcelon, S. Lyonnet, L. Friedlander, 2022, Orphanet Journal of Rare Diseases.

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes

M. de La Dure-Molla, B. Fournier, S. Kerner, 2018, Journal of dental research.

Broadening the phenotypic spectrum of POP1‐skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

A. Offiah, E. Duncan, V. Cormier-Daire, 2017, Clinical genetics.

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

J. Charrow, K. Larimore, M. Irving, 2019, The New England journal of medicine.

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

G. Mortier, J. Campbell, M. Sessa, 2021, Nature Reviews Endocrinology.

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.

Presentation of six cases of Stüve-Wiedemann syndrome

A. Munnich, P. Rustin, S. Lyonnet, 1998, Pediatric Radiology.

Perinatal and infantile hypophosphatasia: clinical features and treatment.

V. Cormier-Daire, K. le Quan Sang, G. Baujat, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Hypophosphatasia: The Disease in Adults

V. Cormier-Daire, M. Merrer, G. Baujat, 2013, Clinical Reviews in Bone and Mineral Metabolism.

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Sheila Unger, Andrea Superti-Furga, Stefan Mundlos, 2011, American journal of medical genetics. Part A.

SHOX gene mutations and deletions in dyschondrosteosis or Leri‐Weill syndrome

A. Munnich, A. Toutain, M. Vekemans, 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Arnold Munnich, Martine Le Merrer, Valérie Belin, 1998, Nature Genetics.

New perspectives on the treatment of skeletal dysplasia

V. Cormier-Daire, Pauline Marzin, 2019, Therapeutic advances in endocrinology and metabolism.

[Prenatal symptoms and diagnosis of inherited metabolic diseases].

N. Boddaert, P. Sonigo, B. Chadefaux-Vekemans, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.

A. Munnich, O. Dulac, R. Nabbout, 2000, American journal of human genetics.

A retrospective study on sleep‐disordered breathing in Morquio‐A syndrome

V. Cormier-Daire, B. Fauroux, M. Zérah, 2018, American journal of medical genetics. Part A.

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

V. Maloney, J. Crolla, N. S. Thomas, 2005, American journal of human genetics.

Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta

V. Cormier-Daire, P. Chavassieux, A. Khairouni, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign

C. Garel, V. Cormier-Daire, H. Ducou le Pointe, 2014, Pediatric Radiology.

Long‐term follow‐up in a patient with metatropic dysplasia

A. Munnich, V. Cormier-Daire, M. le Merrer, 2005, American journal of medical genetics. Part A.

The influence of fronto-facial monobloc advancement on obstructive sleep apnea: An assessment of 109 syndromic craniosynostoses cases.

Q. Hennocq, R. Khonsari, É. Arnaud, 2020, Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery.

Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker

V. Cormier-Daire, C. Poüs, A. Bruneel, 2021, Genes.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

Nosology and classification of genetic skeletal disorders: 2019 revision

D. Sillence, S. Mundlos, S. Robertson, 2019, American journal of medical genetics. Part A.

SHOX point mutations in dyschondrosteosis

A. Munnich, N. Dagoneau, V. Cormier-Daire, 2001, Journal of medical genetics.

Antenatal manifestations of Smith‐Lemli‐Opitz (RSH) syndrome: A retrospective survey of 30 cases

A. Munnich, A. Benachi, F. Chevy, 2004, American journal of medical genetics. Part A.

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

A. Munnich, S. Lyonnet, L. Faivre, 1999, Journal of medical genetics.

Functional analysis of an ADAMTS10 signal peptide mutation in Weill‐Marchesani syndrome demonstrates a long‐range effect on secretion of the full‐length enzyme

Elias I. Traboulsi, Suneel S. Apte, E. Traboulsi, 2008, Human mutation.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Dian Donnai, Sheila Unger, Andrea Superti-Furga, 2016, Nature Genetics.

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

B. Roe, A. Munnich, E. Génin, 2000, The Journal of clinical investigation.

Central sleep apnea in children: experience at a single center.

S. Puget, G. Pinto, V. Cormier-Daire, 2016, Sleep medicine.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome

A. Munnich, P. Nitschké, D. Lacombe, 2015, Human mutation.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

Serpentine fibula‐polycystic kidney syndrome caused by truncating mutations in NOTCH2

C. Le Caignec, B. Isidor, V. Cormier-Daire, 2011, Human mutation.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

R Redon, D Sanlaville, L Colleaux, 2006, Journal of Medical Genetics.

W. Dobyns, K. Aldinger, B. Isidor, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

A. Afenjar, E. Pasmant, M. Vidaud, 2016, Journal of Medical Genetics.

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

A. Munnich, A. Prieur, P. Woo, 2000, American journal of medical genetics.

Growth charts in Kabuki syndrome 1

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

Mutations in SETD2 cause a novel overgrowth condition

R. Touraine, E. Pasmant, M. Vidaud, 2014, Journal of Medical Genetics.

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

A. Munnich, L. Faivre, S. Jacquemont, 2002, Journal of medical genetics.

Mutations in SURF1 are not specifically associated with Leigh syndrome

E. Shoubridge, A. Munnich, P. Rustin, 2001, Journal of medical genetics.

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

A. Munnich, P. Rustin, A. Rötig, 2000, American journal of human genetics.

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

Julie C. Sapp, L. Biesecker, J. Johnston, 2015, American journal of human genetics.

Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases

P. Landais, V. Cormier-Daire, R. Choquet, 2017, Orphanet Journal of Rare Diseases.

Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders

V. Cormier-Daire, C. Francastel, G. Velasco, 2021, International journal of molecular sciences.

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Andrea Superti-Furga, Sebastian Wachsmann-Hogiu, Judith Allanson, 2004, Nature Genetics.

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

Likun Du, Q. Pan-Hammarström, A. Durandy, 2013, The Journal of experimental medicine.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

M. Lemaître, L. Vallée, B. Gilbert-Dussardier, 2015, European journal of medical genetics.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

T. Meitinger, T. Strom, D. Wieczorek, 2016, Human mutation.

Not All Floating‐Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP

A. Munnich, P. Nitschké, L. Faivre, 2013, Human mutation.

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.

P. Bénit, A. Munnich, P. Rustin, 2001, American journal of human genetics.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

C Turleau, L Colleaux, M Vekemans, 2009, Journal of Medical Genetics.

High incidence of SHOX anomalies in individuals with short stature

A. Munnich, V. Cormier-Daire, C. Huber, 2006, Journal of Medical Genetics.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Susan S. Taylor, I. Scheffer, G. Mortier, 2020, American journal of human genetics.

Clinical Utility Gene Card for: 3-M syndrome - Update 2013

M. Irving, V. Cormier-Daire, M. Holder‐Espinasse, 2013, European Journal of Human Genetics.

Clinical utility gene card for: 3M syndrome

M. Irving, V. Cormier-Daire, M. Holder‐Espinasse, 2011, European Journal of Human Genetics.

The 3M syndrome.

A. Munnich, V. Cormier-Daire, C. Huber, 2011, Best practice & research. Clinical endocrinology & metabolism.

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)

A. Munnich, C. Picard, B. Isidor, 2008, Nature Genetics.

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

R. Redon, N. Carter, A. Munnich, 2006, European Journal of Human Genetics.

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

A. Afenjar, V. Drouin‐Garraud, T. Frebourg, 2007, Human mutation.

CHARGE syndrome: report of 47 cases and review.

J L Michel, A. Munnich, N. Philip, 1998, American journal of medical genetics.

Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity

S. Jacquemont, C. Le Caignec, B. Isidor, 2008, American journal of medical genetics. Part A.

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

A. Munnich, V. Cormier-Daire, J. Laville, 2014, European Journal of Human Genetics.

Mutations in two regions of FLNB result in atelosteogenesis I and III

S. Robertson, D. Rimoin, J. Roume, 2006, Human mutation.

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

A. Munnich, E. Schaftingen, G. Matthijs, 2001, Journal of medical genetics.

Myhre syndrome

V. Cormier-Daire, C. Le Goff, C. Michot, 2014, Clinical genetics.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

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

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

D. Chaussabel, J. Casanova, A. Bousfiha, 2015, The Journal of experimental medicine.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Laureline Berteloot, Nicolas Grenier, Nathalie Boddaert, 2018, Nature.

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.

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

S. Mundlos, G. Mortier, Y. Crow, 2004, American journal of human genetics.

Overgrowth syndromes — clinical and molecular aspects and tumour risk

A. Toutain, V. Cormier-Daire, I. Netchine, 2019, Nature Reviews Endocrinology.

A rapid microarray based whole genome analysis for detection of uniparental disomy

Murat Bastepe, Thomas Eggermann, Andreas Dufke, 2005, Human mutation.

Three‐dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia

P. Sonigo, F. Brunelle, A. Benachi, 2013, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

spectrum disorders rearrangements in patients with syndromic autism identifies high frequency of cryptic chromosomal Array-based comparative genomic hybridisation

R. Redon, S. Lyonnet, M. Vekemans, 2006 .

Genome‐wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation

R. Redon, A. Munnich, D. Bacq, 2004, Clinical genetics.

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

N. Rahman, W. Reardon, A. Collins, 2005, Journal of Medical Genetics.

The 3M complex maintains microtubule and genome integrity.

Xian Chen, Yanbao Yu, Y. Xiong, 2014, Molecular cell.

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

A. Munnich, J. Casanova, J. Tolmie, 2011, Nature Genetics.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the “Japanese” type

D. Rimoin, V. Cormier-Daire, R. Savarirayan, 2000, Pediatric Radiology.

Identification of mutations in CUL7 in 3-M syndrome

A. Munnich, P. Scambler, R. Hennekam, 2005, Nature Genetics.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

N. Boddaert, S. Pannier, G. Canaud, 2018, Nature.

Upper limb malformations in DiGeorge syndrome.

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

Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

A. Munnich, S. Lyonnet, V. Cormier-Daire, 2004, American journal of medical genetics. Part A.

Clinical Report Atypical Findings in Kabuki Syndrome: Report of 8 Patients in a Series of 20 and Review of the Literature

A. Munnich, S. Lyonnet, V. Cormier-Daire, 2004 .

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2020, American journal of human genetics.

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.

V. Maloney, N. S. Thomas, J. Argente, 2006, American journal of human genetics.

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

C. Thaller, S. Robertson, R. Hennekam, 2009, Nature Genetics.

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

A. Munnich, G. Mortier, A. Mégarbané, 2000, Journal of medical genetics.

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.

J. Charrow, M. Irving, K. White, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

M. Irving, D. Thompson, K. White, 2022, Orphanet Journal of Rare Diseases.

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

M. Irving, F. Santos-Simarro, J. Hoover-Fong, 2022, Therapeutic advances in musculoskeletal disease.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

A. Munnich, R. Hennekam, N. Katsanis, 2011, Nature Genetics.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

N. Carter, A. Munnich, R. Hennekam, 2010, American journal of human genetics.

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

J. Bonaventure, L. Gibbs, B. Zabel, 2006, European Journal of Human Genetics.

MAFB Determines Human Macrophage Anti-Inflammatory Polarization: Relevance for the Pathogenic Mechanisms Operating in Multicentric Carpotarsal Osteolysis

Á. Corbí, R. Samaniego, V. Cormier-Daire, 2017, The Journal of Immunology.

Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.

A. Munnich, L. Faivre, V. Cormier-Daire, 2001, American journal of medical genetics.

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.

A. Munnich, L. Faivre, M. Vekemans, 2000, American journal of medical genetics.

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

A. Munnich, L. Pasquier, L. Faivre, 2002, European Journal of Human Genetics.

No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients.

A. Munnich, L. Faivre, M. Vekemans, 2001, American journal of medical genetics.

Autosomal recessive osteopetrosis Author : Doctor

V. Cormier-Daire, Callum Wilson, 2004 .

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

B. Isidor, A. Dieux, V. Cormier-Daire, 2019, Clinical genetics.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Edward S. Miller, T. Blundell, M. van der Burg, 2015, American journal of human genetics.

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.

Functional disomy of the Xq28 chromosome region

A. Munnich, S. Romana, M. Vekemans, 2005, European Journal of Human Genetics.

Sleep‐disordered breathing and its management in children with achondroplasia

V. Cormier-Daire, B. Fauroux, M. Zérah, 2017, American journal of medical genetics. Part A.

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

Sébastien Moutton, Nathalie Boddaert, Lam Son Nguyen, 2015, European Journal of Human Genetics.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

G. Mortier, A. Zankl, B. Zabel, 2007, European Journal of Human Genetics.

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

R. Gibbs, S. Robertson, M. Bainbridge, 2012, American journal of human genetics.

Incidence and clinical features of X-linked Cornelia de Lange syndrome due toSMC1L1 mutations

A. Munnich, L. Colleaux, G. Borck, 2019 .

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.

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

A. Munnich, E. Chouery, A. Mégarbané, 2014, PLoS genetics.

Increased paternal age in CHARGE association

A. Munnich, N. Philip, D. Lacombe, 1996, Clinical genetics.

Features of DiGeorge syndrome and CHARGE association in five patients.

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

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

O. Mäkitie, A. Warren, T. Cho, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.

F. Rieux-Laucat, H. Cavé, B. Bader-Meunier, 2013, Seminars in arthritis and rheumatism.

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

A. Munnich, C. Picard, G. Pinto, 2016, American journal of human genetics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

D. Gisselsson, V. Shanmugasundaram, F. Alkuraya, 2020, The Journal of experimental medicine.

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

A. Munnich, D. Rimoin, Sulin Wu, 2013, American journal of human genetics.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2021, American journal of human genetics.

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

R. Hennekam, M. Lees, A. Hing, 2013, Clinical genetics.

Craniosynostosis and kidney malformation in a case of Hennekam syndrome.

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

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

A. Munnich, A. Mégarbané, R. Gorlin, 2003, American journal of medical genetics. Part A.

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

C. Bole-Feysot, P. Nitschké, M. Vekemans, 2018, European Journal of Human Genetics.

Sleep‐disordered breathing and its management in children with rare skeletal dysplasias

V. Cormier-Daire, B. Fauroux, M. Zérah, 2021, American journal of medical genetics. Part A.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

R. Pfundt, H. Brunner, H. Bokhoven, 2009, Journal of Medical Genetics.

Elements of morphology: Standard terminology for the nose and philtrum

R. Hennekam, R. Stevenson, K. Méhes, 2009, American journal of medical genetics. Part A.

[Genetics and the SHOX gene].

V. Cormier-Daire, C. Huber, 2004, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis

L. Faivre, C. Thauvin-Robinet, V. Cormier-Daire, 2002, Prenatal diagnosis.

Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations

C. Fallet-Bianco, C. Picard, E. Schaftingen, 2021, Journal of Clinical Immunology.

Werner mesomelic dysplasia with Hirschsprung disease

A. Munnich, S. Lyonnet, P. de Lagausie, 2003, American journal of medical genetics. Part A.

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia

C. Delacourt, S. Lyonnet, S. Sarnacki, 2022, American journal of medical genetics. Part A.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.

A. Munnich, S. Lyonnet, L. Faivre, 2001, Clinical dysmorphology.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

D. Lacombe, L. Pasquier, M. Gonzalès, 2013, European journal of medical genetics.

Clinical and molecular variability in congenital dyserythropoietic anaemia type I

H. Tamary, I. Yaniv, B. Bader-Meunier, 2005, British journal of haematology.

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

J. Melki, J. Sosna, R. Belostotsky, 2009, American journal of human genetics.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

A. Munnich, D. Figarella-Branger, S. Küry, 2015, Orphanet Journal of Rare Diseases.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

R. Redon, A. Munnich, B. Keavney, 2013, American journal of human genetics.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

J. Casanova, S. Boughorbel, S. Tangye, 2019, Science Immunology.

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

J. Millán, J. Roume, J. Salles, 2015, Molecular genetics and metabolism.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

P. Shannon, D. Chitayat, S. Saunier, 2019, Human molecular 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.

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

F. Escande, B. Delobel, V. Cormier-Daire, 2018, European Journal of Human Genetics.

The ADAMTS(L) family and human genetic disorders.

V. Cormier-Daire, C. Le Goff, Carine Le Goff, 2011, Human molecular genetics.

A gene for Meckel syndrome maps to chromosome 11q13.

A. Munnich, E. Génin, C. Fallet-Bianco, 1998, American journal of human genetics.

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

G. Mortier, A. Toutain, M. Cossée, 2005, Journal of Medical Genetics.

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

A. Munnich, S. Lyonnet, V. Cormier-Daire, 2000, Journal of medical genetics.

Chondrodysplasias and TGFβ signaling.

V. Cormier-Daire, C. Le Goff, Carine Le Goff, 2015, BoneKEy reports.

Novel Mutations in Geleophysic Dysplasia Type 1

A. Perez-Atayde, S. Sanders, P. Porayette, 2014, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

A. Munnich, K. Devriendt, R. Hennekam, 2011, Journal of Medical Genetics.

Molecular Genetics of Myhre Syndrome

C. L. Goff, V. Cormier-Daire, C. Michot, 2016 .

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

E. Zackai, A. Munnich, M. Polak, 2001, Journal of medical genetics.

Orthopedics management of acromicric dysplasia: Follow up of nine patients

P. Violas, V. Cormier-Daire, S. Odent, 2014, American journal of medical genetics. Part A.

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2

A. Munnich, A. Mégarbané, D. Bacq, 2002, Human Genetics.

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

E. Chouery, A. Mégarbané, V. Cormier-Daire, 2012, European journal of medical genetics.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

A. Munnich, S. Julia, A. Toutain, 2019, Genetics in Medicine.

Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

A. Munnich, V. Cormier-Daire, J. Amiel, 1999, Journal of medical genetics.

Myhre syndrome: new reports, review, and differential diagnosis

A. Verloes, J. Bourguignon, V. Cormier-Daire, 2003, Journal of medical genetics.

Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases

C. Delacourt, V. Cormier-Daire, D. Khraiche, 2020, Genetics in Medicine.

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation

C. Bodemer, A. Munnich, A. Verloes, 2004, Journal of Medical Genetics.

Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations

A. Munnich, J. Casanova, V. Cormier-Daire, 2005, American journal of medical genetics. Part A.

Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome.

S. Phadke, K. Girisha, V. Cormier-Daire, 2008, European journal of medical genetics.

Ebstein anomaly associated with rearrangements of chromosomal region 11q.

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

Recent advances in Dyggve-Melchior-Clausen syndrome.

A. Munnich, V. El Ghouzzi, V. Cormier-Daire, 2004, Molecular genetics and metabolism.

Probable identity‐by‐descent for a mutation in the Dyggve–Melchior–Clausen/Smith–McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

G. Repetto, V. Cormier-Daire, D. Cohn, 2005, American journal of medical genetics. Part A.

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

A. Munnich, A. Mégarbané, V. El Ghouzzi, 2002, Journal of medical genetics.

Sleep‐disordered breathing in children with pycnodysostosis

G. Pinto, É. Arnaud, V. Cormier-Daire, 2020, American journal of medical genetics. Part A.

Genotypes and phenotypes of children with SHOX deficiency in France.

W. Blum, V. Cormier-Daire, J. Carel, 2012, The Journal of clinical endocrinology and metabolism.

Genetic heterogeneity of Meckel syndrome.

A. Munnich, E. Génin, J. Roume, 1997, 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.

Macrocephaly‐cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations

N. Philip, D. Bonneau, F. Giuliano, 2004, American journal of medical genetics. Part A.

Clinical and molecular overlap in overgrowth syndromes

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

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

A. Munnich, J. Soulier, D. Lacombe, 2010, European Journal of Human Genetics.

Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.

G. Matthijs, G. Ponsot, V. Cormier-Daire, 2003, Neuropediatrics.

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

J. Seidman, M. Vikkula, I. Holm, 2011, PLoS genetics.

Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

L. Hertz-Pannier, F. Brunelle, P. Niaudet, 2006, Pediatric Radiology.

Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.

A. Munnich, P. Rustin, A. Rötig, 1999, Neuropediatrics.

Finger creases lend a hand in Kabuki syndrome.

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

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

P. Robinson, E. Arbustini, C. Béroud, 2012, American journal of human 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.

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

M. van der Burg, Likun Du, Q. Pan-Hammarström, 2018, The Journal of allergy and clinical immunology.

Lumbar spinal stenosis and disc alterations affect the upper lumbar spine in adults with achondroplasia

J. Laredo, A. Yelnik, V. Cormier-Daire, 2020, Scientific Reports.

Sleep‐disordered breathing in children with mucolipidosis

V. Cormier-Daire, C. Caillaud, A. Brassier, 2019, American journal of medical genetics. Part A.

C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle

D. Boichard, M. Gautier, S. Schneider-Maunoury, 2015, Nature Communications.

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

A. Munnich, P. Rustin, L. Pasquier, 2005, Archives of Disease in Childhood.

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

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

Severe, atypical form of dyschondrosteosis (report of two cases)

V. Cormier-Daire, C. Huber, K. Kozłowski, 2005, European Journal of Pediatrics.

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.

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis

S. Unal, V. Cormier-Daire, E. Utine, 2014, Pediatric blood & cancer.

Clinical and genetic heterogeneity of Seckel syndrome.

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

Craniofacial anomalies and malformations in respiratory chain deficiency.

A. Munnich, P. Rustin, A. Rötig, 1996, 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.

Septo-optic dysplasia and digital anomalies: another observation.

A. Munnich, L. Faivre, V. Cormier-Daire, 2002, American journal of medical genetics.

Severe X‐linked chondrodysplasia punctata in nine new female fetuses

A. Toutain, J. Rivière, M. Gonzalès, 2015, Prenatal diagnosis.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

A. Brice, V. Drouin‐Garraud, C. Thauvin, 2014, Orphanet Journal of Rare Diseases.

Craniovertebral junction anomalies in achondroplastic children.

C. Sainte-Rose, F. Di Rocco, V. Cormier-Daire, 2014, Advances and technical standards in neurosurgery.

[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases].

F. Chevy, C. Wolf, V. Cormier-Daire, 2003, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

P. Bénit, A. Munnich, L. Hertz-Pannier, 2003, 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.

Adrenal Insufficiency and Abnormal Genitalia in a 46XX Female with Smith-Lemli-Opitz Syndrome

V. Cormier-Daire, W. Chemaitilly, A. Goldenberg, 2003, Hormone Research in Paediatrics.

Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations.

V. Cormier-Daire, V. Laugel, M. Fischbach, 2007, Pediatric neurology.

Nosology of genetic skeletal disorders: 2023 revision

D. Sillence, S. Mundlos, S. Robertson, 2023, American journal of medical genetics. Part A.

TGFβ−induced embryonic cell senescence at the origin of the Cornelia de Lange syndrome

E. Watrin, M. Pucéat, V. Cormier-Daire, 2023, bioRxiv.

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.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

C. Nellåker, F. Alkuraya, D. Lacombe, 2021, Clinical genetics.

Craniosynostosis and hypophosphatasia.

F. Di Rocco, V. Cormier-Daire, A. Rothenbuhler, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

C. Bole-Feysot, P. Nitschké, A. Gezdirici, 2017, Clinical genetics.

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Myrthe van den Born, S. Saunier, M. Knapen, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Contribution of three‐dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease)

L. Faivre, C. Thauvin-Robinet, V. Cormier-Daire, 2009, Prenatal diagnosis.

Lung function, diagnosis, and treatment of sleep‐disordered breathing in children with achondroplasia

F. Di Rocco, V. Cormier-Daire, B. Fauroux, 2012, American journal of medical genetics. Part A.

Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?

A. Munnich, L. Faivre, V. Cormier-Daire, 2002, Journal of medical genetics.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

A. Munnich, B. Tüysüz, R. Maroofian, 2018, Nature Communications.

Expanding the skeletal phenotype of Loeys‐Dietz syndrome

A. Munnich, F. Brunelle, C. Boileau, 2011, American journal of medical genetics. Part A.

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

N. Boddaert, R. Lifton, S. Saunier, 2015, Journal of Medical Genetics.

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes

A. Munnich, D. Bonneau, F. Fellmann, 1996, European Journal of Pediatrics.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

Phenotype and natural history in Marshall–Smith syndrome

Martin Zenker, Silvija Pušeljić, Geert Mortier, 2010, American journal of medical genetics. Part A.

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3

A. Munnich, D. Bacq, L. Faivre, 2003, Journal of medical genetics.

Long‐term outcome in desbuquois dysplasia: A follow‐up in four adult patients

A. Munnich, L. Faivre, V. Cormier-Daire, 2004, American journal of medical genetics. Part A.

Parents’ Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia

V. Cormier-Daire, R. Argent, K. Mohnike, 2023, Advances in therapy.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.

A. Munnich, P. Rustin, A. Rötig, 1994, The Journal of pediatrics.

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)—A distinct syndrome?

A. Munnich, D. Krakow, V. Cormier-Daire, 2010, American journal of medical genetics. Part A.

Bone allografting: an original method for biological osteosynthesis and bone reinforcement in children with osteogenesis imperfecta

S. Pannier, V. Cormier-Daire, V. Dumaine, 2023, International Orthopaedics.

Acral dysostosis dyserythropoiesis syndrome

V. Cormier-Daire, R. Girot, P. Parent, 1995, European Journal of Pediatrics.

Serum bikunin is a biomarker of linkeropathies.

V. Cormier-Daire, C. Poüs, C. Huber, 2018, Clinica chimica acta; international journal of clinical chemistry.

A non‐pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

A. Munnich, V. Cormier-Daire, E. Levy-Lahad, 2011, American journal of medical genetics. Part A.

Identification of four novel PMM2mutations in congenital disorders of glycosylation (CDG) Ia French patients

B. Grandchamp, V. Cormier-Daire, P. de Lonlay, 2000, Journal of medical genetics.

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

A. Munnich, V. Cormier-Daire, N. Villeneuve, 2005, European Journal of Human Genetics.

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

A. Afenjar, V. Cormier-Daire, J. Amiel, 2022, Orphanet Journal of Rare Diseases.

Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.

D. Rimoin, P. Roughley, W. Wilcox, 2000, American journal of medical genetics.

Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature

O. Mäkitie, R. Drouin, Philippe M. Campeau, 2021, Bone reports.

Juvenile Osteoporosis with Calvarial Doughnuts: Progressive High-Turnover Bone Loss Responsive to Bisphosphonate Therapy.

V. Cormier-Daire, Y. Degboé, M. Laroche, 2020, Joint, bone, spine : revue du rhumatisme.

An automatic facial landmarking for children with rare diseases

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

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

S. Mundlos, E. Klopocki, S. Doelken, 2013, European Journal of Human Genetics.

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

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

Mosaic compound heterozygosity of SHOX resulting in Leri–Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

A. Munnich, V. Cormier-Daire, E. Levy-Lahad, 2010, American journal of medical genetics. Part A.

Respiratory Chain Deficiency in Alpers Syndrome

A. Munnich, P. Rustin, A. Rötig, 2001, Neuropediatrics.

A neuropathological study of cerebrovascular abnormalities in a signal transducer and activator of transcription 3-deficient patient.

A. Fischer, C. Picard, C. Oppenheim, 2015, The Journal of allergy and clinical immunology.

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta

J. Mazzeu, M. de La Dure-Molla, B. Fournier, 2023, Journal of dental research.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

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.

Hip dislocation in 3-M syndrome: risk of misdiagnosis.

S. Pannier, V. Cormier-Daire, C. Glorion, 2011, Clinical dysmorphology.

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism

A. Munnich, V. Cormier-Daire, J. Amiel, 2000, Journal of medical genetics.

[Carbohydrate-deficient blood glycoprotein syndrome].

A. Munnich, J. Saudubray, V. Cormier-Daire, 2000, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[Osteogenesis imperfecta, diagnosis information (clinical and genetic classification)].

V. Cormier-Daire, A. Lèbre, M. le Merrer, 2008, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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.

Significant contribution of intragenic deletions to ARID1B mutation spectrum

A. Afenjar, N. Philip, V. Cormier-Daire, 2019, Genetics in Medicine.

Orthotopic liver transplantation for mitochondrial respiratory chain disorders: a study of 5 children.

A. Munnich, V. Cormier-Daire, B. Dubern, 2001, Transplantation.

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients

R. Khonsari, V. Cormier-Daire, B. Fauroux, 2023, Orphanet Journal of Rare Diseases.

A novel mutation and novel features in Nijmegen breakage syndrome

A. Green, E. Shoubridge, A. Munnich, 2001, Journal of medical genetics.

Real-world evidence in achondroplasia: considerations for a standardized data set

M. Maghnie, M. Sessa, M. Irving, 2023, Orphanet Journal of Rare Diseases.

Myhre syndrome

C. L. Goff, V. Cormier-Daire, C. Michot, 2014, Clinical genetics.

High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis

A. Verloes, V. Cormier-Daire, J. Carel, 2003, Journal of medical genetics.

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

A. Afenjar, P. Lapunzina, J. Nevado, 2023, Genes.

Challenges of Trustable AI and Added-Value on Health - Proceedings of MIE 2022, Medical Informatics Europe, Nice, France, May 27-30, 2022

Xiaoyi, Antonio Felix de Castro, C. Anderson, 2022, MIE.

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.

TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature.

V. Cormier-Daire, Alessandra Guasto, A. Costantini, 2023, Annual review of genomics and human genetics.

New perspectives on the treatment of skeletal dysplasia

V. Cormier-Daire, Pauline Marzin, 2020, Therapeutic advances in endocrinology and metabolism.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: previously undescribed MCA/MR syndrome.

A. Mégarbané, V. Cormier-Daire, 2001, American journal of medical genetics.

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

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

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport dystrophy with impaired retrograde intraflagellar transport

Colin A. Johnson, P. Scambler, S. Letteboer, 2021 .

Genetic and molecular aspects of acromelic dysplasia.

V. Cormier-Daire, C. Le Goff, 2009, Pediatric endocrinology reviews : PER.

Staphylococcal food poisoning.

A. L. Wong, J. Gécz, M. Rietschel, 2002 .

Metalloproteinases and their inhibitors in the pathophysiology of heritable connective tissue disorders : current evidence

C. L. Goff, V. Cormier-Daire, Laure Delhon, 2016 .

Metalloproteinases and their inhibitors in the pathophysiology of heritable connective tissue disorders : current evidence

C. L. Goff, V. Cormier-Daire, Laure Delhon, 2016 .

Lumbar spinal stenosis and disc alterations affect the upper lumbar spine in adults with achondroplasia

J. Laredo, A. Yelnik, V. Cormier-Daire, 2020, Scientific Reports.

New mesomelic dysplasia with absent fibulae and triangular tibiae.

D. Rimoin, C. Curry, V. Cormier-Daire, 2000, American journal of medical genetics.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34

A. Munnich, B. Isidor, B. Bader-Meunier, 2007, Human Genetics.

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature

V. Cormier-Daire, C. Francannet, C. Huber, 2023, Journal of medical genetics.

Metalloproteinases and their inhibitors in the pathophysiology of heritable connective tissue disorders: current evidence

C. L. Goff, V. Cormier-Daire, Laure Delhon, 2016 .

Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome

D. Hannequin, V. Cormier-Daire, A. Goldenberg, 2012, Journal of clinical and experimental neuropsychology.

A second family with autosomal recessive spondylometaphyseal dysplasia and early death

A. Mégarbané, V. Cormier-Daire, C. Mehawej, 2014, American journal of medical genetics. Part A.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients.

P. Codogno, E. Ogier-Denis, V. Cormier-Daire, 1999, Biochimica et biophysica acta.

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.

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

M. van der Burg, Likun Du, Q. Pan-Hammarström, 2018, The Journal of allergy and clinical immunology.

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.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

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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.

OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

A. Munnich, H. Stewart, J. Michaud, 2010, Human mutation.

The 3M syndrome.

A. Munnich, V. Cormier-Daire, C. Huber, 2011, Best practice & research. Clinical endocrinology & metabolism.

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome

R. Touraine, V. Cormier-Daire, T. Attié-Bitach, 2023, Clinical genetics.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

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Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome

A. Munnich, P. Nitschké, D. Lacombe, 2015, Human Mutation.

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.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

J. Schuurs-Hoeijmakers, N. de Leeuw, E. Bongers, 2011, Journal of Medical Genetics.

Phenotype and natural history in Marshall–Smith syndrome

R. Hennekam, G. Mortier, S. Knight, 2010, American journal of medical genetics. Part A.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Edward S. Miller, T. Blundell, M. van der Burg, 2015, American journal of human genetics.

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.

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C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

J. Charrow, K. Larimore, M. Irving, 2019, The New England journal of medicine.

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.

V. Cormier-Daire, M. Panuel, C. Huber, 2020, European journal of medical genetics.