G. Baujat

发表

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

R. Salomon, J. Rendu, B. Ranchin, 2011, Human mutation.

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.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

P. Bauer, A. Rötig, H. Kayserili, 2020, Nature Communications.

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

H. Cavé, A. Ziegler, N. Loundon, 2017, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling

A. Fabre, M. Barat‐Houari, I. Touitou, 2016, American journal of medical genetics. Part A.

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.

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.

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.

Ellis-Van Creveld syndrome

M. le Merrer, G. Baujat, 2007, Orphanet journal of rare diseases.

[Craniofacial strategy for syndromic craniosynostosis].

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

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

G. Captier, H. Kayserili, M. Vezain, 2018, American journal of medical genetics. Part A.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

A. Munnich, I. Simonic, S. Mehta, 2012, Journal of Medical 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.

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.

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.

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

A. Noegel, S. Lyonnet, C. Becker, 2022, Genetics in medicine : official journal of the American College of Medical 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.

CEMARA: a Web Dynamic Application Within a N-tier Architecture for Rare Diseases

Mohamed Ben Saïd, Paul Landais, Jean Philippe Jaïs, 2008, MIE.

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

M. McCulloch, R. Terkeltaub, N. Chassaing, 2012, American journal of human genetics.

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.

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

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

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

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

Oroesophageal Motor Disorders in Pierre Robin Syndrome

C. Faure, V. Abadie, G. Baujat, 2001, Journal of pediatric gastroenterology and nutrition.

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.

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

B. Gener, C. Depienne, S. Julia, 2016, Orphanet Journal of Rare Diseases.

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.

Hyperphosphatemic Familial Tumoral Calcinosis With Galnt3 Mutation: Transient Response to Anti‐Interleukin‐1 Treatments

C. Roux, K. Briot, P. Quartier, 2019, JBMR plus.

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.

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

Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutation.

Y. Crow, J. Marsh, B. Bader-Meunier, 2020, Rheumatology.

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.

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.

Severe malaria among children in a low seasonal transmission area, Dakar, Senegal: influence of age on clinical presentation.

C. Rogier, P. Imbert, D. Candito, 1997, Transactions of the Royal Society of Tropical Medicine and Hygiene.

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 .

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

W. Gahl, C. Ferreira, G. Khursigara, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

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

Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome

C. Bodemer, G. Pinto, S. Hadj-Rabia, 2020, Pediatric dermatology.

Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP)

M. Brown, E. Hsiao, T. Cho, 2018, British journal of clinical pharmacology.

Mutation in MMP2 gene may result in scleroderma-like skin thickening

C. Bodemer, B. Bader-Meunier, L. Bonafė, 2015, Annals of the rheumatic diseases.

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.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

Olivier Tassy, P. Pennamen, C. Rooryck, 2022, American journal of medical genetics. Part A.

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations

J. Laplanche, É. Arnaud, D. Rénier, 2014, European Journal of Human Genetics.

Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP): Results of a Randomized, Placebo‐Controlled, Double‐Blind Phase 2 Trial

E. Hsiao, A. Strahs, R. Pignolo, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

M. Brown, E. Hsiao, U. Masharani, 2020, Orphanet Journal of Rare Diseases.

New insights into genotype–phenotype correlation for GLI3 mutations

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

Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients

A. Munnich, N. Baena, A. Verloes, 2014, Human mutation.

Evaluation of nasal obstruction in children by acoustic rhinometry: A prospective study.

F. Simon, B. Fauroux, N. Leboulanger, 2019, International journal of pediatric otorhinolaryngology.

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review

G. Ghiggeri, G. Caridi, F. Lugani, 2022, Journal of clinical medicine.

Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization

E. Hsiao, R. Pignolo, F. Kaplan, 2021, Orphanet Journal of Rare Diseases.

Growth charts in Cockayne syndrome type 1 and type 2.

M. Kubota, P. Kang, S. Mohammed, 2020, European journal of medical genetics.

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.

Effects of eight neuropsychiatric copy number variants on human brain structure

Allison G. Dempsey, M. Owen, R. Buckner, 2021, Translational Psychiatry.

Anatomical and functional abnormalities on MRI in kabuki syndrome

M. Zilbovicius, H. Lemaître, N. Boddaert, 2018, NeuroImage: Clinical.

Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry.

E. Hsiao, R. Pignolo, N. Haga, 2020, Bone.

[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.

Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature.

I. Pin, G. Baujat, E. Mornet, 2018, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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.

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.

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

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

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.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

J. Rosenfeld, S. Spence, D. Ledbetter, 2016, JAMA psychiatry.

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

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

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.

Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish

M. Vazquez, S. Lyonnet, J. Amiel, 2015, PLoS genetics.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

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

Defining the Effect of the 16 p 11 . 2 Duplication on Cognition , Behavior , andMedical Comorbidities

J. Rosenfeld, S. Spence, D. Ledbetter, 2015 .

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

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

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.

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.

Germline mutations in FGF receptors and medulloblastomas

O. Delattre, F. Bourdeaut, F. Di Rocco, 2013, American journal of medical genetics. Part A.

Early feeding resistance: A possible consequence of neonatal oro‐oesophageal dyskinesia

V. Abadie, J. Schmitz, G. Baujat, 2001, Acta paediatrica.

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.

Correction: Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish

M. Vazquez, S. Lyonnet, F. Spitz, 2015, PLoS genetics.

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

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

Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes

A. Battaglia, M. Spielmann, F. Garaci, 2019, Clinical 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.

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

P. Jouk, F. Escande, C. Goizet, 2020, Human mutation.

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.

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

G. Captier, M. Vezain, J. Roume, 2022, American journal of medical genetics. Part A.

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.

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.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

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.

Childhood‐onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations

B. Bader-Meunier, T. Briggs, S. Blanche, 2017, Pediatric blood & cancer.

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

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

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

D. Horn, B. Gener, D. Lev, 2012, American journal of human genetics.

Clinical and neuroradiological features of the 9p deletion syndrome

F. Brunelle, F. Di Rocco, É. Arnaud, 2016, Child's Nervous System.

Molecular study of 33 families with Fraser syndrome new data and mutation review

P. Scambler, R. Hennekam, E. Monti, 2008, American journal of medical genetics. Part A.

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

R. Redon, S. Küry, J. Thevenon, 2019, Genetics in Medicine.

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.

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.

EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

C. Vigouroux, M. Auclair, Jun Yang, 2021, medRxiv.

Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization

A. Toutain, C. Le Caignec, B. Isidor, 2009, American journal of medical genetics. Part A.

Craniosynostosis and metabolic bone disorder. A review.

C. Adamsbaum, J. Bacchetta, F. Di Rocco, 2019, Neuro-Chirurgie.

Sleep‐disordered breathing in children with pycnodysostosis

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

Clinical and molecular overlap in overgrowth syndromes

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

Familial gigantism caused by an NSD1 mutation

N. Rahman, P. Scambler, S. Drop, 2005, American journal of medical genetics. Part A.

Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome

C. Elie, R. Salomon, D. Baruch, 2021, British journal of haematology.

[Epidemiology and prognosis of childhood cancers in Dakar, Senegal].

P. Guyon, P. Imbert, G. Baujat, 2003, Medecine tropicale : revue du Corps de sante colonial.

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.

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.

Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling

S. Julia, T. Félix, J. Chelly, 2020, Clinical genetics.

Reduction of New Heterotopic Ossification (HO) in the Open‐Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP)

E. Hsiao, A. Strahs, R. Pignolo, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

CEMARA an information system for rare diseases

Mohamed Ben Saïd, Paul Landais, Jean Philippe Jaïs, 2010, MedInfo.

Craniovertebral junction anomalies in achondroplastic children.

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

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.

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.

Craniosynostosis and hypophosphatasia.

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

Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.

R. Salomon, J. Lunardi, T. Mirault, 2010, British journal of haematology.

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

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

International physician survey on management of FOP: a modified Delphi study

M. Brown, E. Hsiao, R. Pignolo, 2017, Orphanet Journal of Rare Diseases.

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

M. Brown, E. Hsiao, R. Pignolo, 2019, Orphanet Journal of Rare Diseases.

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.

[Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late].

R. Ravazzolo, R. Bocciardi, F. Laffargue, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Most Fractures Treated Nonoperatively in Individuals With Fibrodysplasia Ossificans Progressiva Heal With a Paucity of Flareups, Heterotopic Ossification, and Loss of Mobility.

E. Hsiao, T. Cho, R. Pignolo, 2023, Clinical orthopaedics and related research.

Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis

A. Fabre, M. Barat‐Houari, I. Touitou, 2020, Arthritis & rheumatology.

Expanding the skeletal phenotype of Loeys‐Dietz syndrome

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

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.

E. Hsiao, R. Pignolo, N. Haga, 2017, Bone.

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

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

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.

Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies.

G. Maréchal, R. Khonsari, T. Schouman, 2019, Journal of stomatology, oral and maxillofacial surgery.

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.

Tibial Sliding Elastic Nailing Technique in Moderate-to-Severe Osteogenesis Imperfecta: Long-term Outcomes

S. Pannier, Z. Péjin, G. Baujat, 2021, Journal of pediatric orthopedics.

Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

D. Bonneau, L. Gouya, C. Boileau, 2020, Clinical genetics.

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta

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

D. Lacombe, C. Cabrol, A. Goldenberg, 2018, Clinical genetics.

The natural history of fibrodysplasia ossificans progressiva: A prospective, global 36-month study.

M. Brown, E. Hsiao, A. Strahs, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

[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.

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.

Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

S. Moutton, M. Rio, Y. Lerosey, 2023, International journal of pediatric otorhinolaryngology.

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

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

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.

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.

Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice

D. Chan, J. Bassett, G. Williams, 2023, JCI insight.

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

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

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.

OR29-05 A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 12-Month Outcomes

M. Brown, E. Hsiao, A. Strahs, 2020, Journal of the Endocrine Society.

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome

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

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

R. Salomon, J. Rendu, B. Ranchin, 2011, Human mutation.

Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families

P. Jouk, B. Gilbert-Dussardier, L. Pasquier, 2014, Clinical genetics.

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.