Presentation
Scientific Publications
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2026Journal (source)Transl Psychiatry
Multimodal imaging reveals resilient memory networks in carriers of pathogeni...
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2024Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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2024Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
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2022Journal (source)J Med Genet.
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
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2021Journal (source)Int J Mol Sci 2021
Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.
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2020Journal (source)Am. J. Hum. Genet.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta...
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2020Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
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2020Journal (source)J. Bone Miner. Res.
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe...
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Journal (source)Ther Adv Endocrinol Metab. 2020
New perspectives on the treatment of skeletal dysplasia.
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2020Journal (source)J. Exp. Med.
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann ...
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2020Journal (source)Bone
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphal...
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2020Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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2019Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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2019Journal (source)Sci Immunol
Chronic mucocutaneous candidiasis and connective tissue disorder in humans wi...
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2019Journal (source)Hum. Mol. Genet.
Human IFT52 mutations uncover a novel role for the protein in microtubule dyn...
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2019Journal (source)FASEB J
Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2018Journal (source)FASEB J
Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.
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2018Journal (source)Nat Commun.
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2018Journal (source)J Med Genet
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfe...
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2018Journal (source)J Med Genet
mutations are responsible for autosomal recessive osteogenesis imperfecta.
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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2014
Myhre syndrome.
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2014Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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2014Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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2013Journal (source)Am J Hum Genet
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asp...
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2012Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2011Journal (source)Nat Genet
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syn...
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2011Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.
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2009Journal (source)Am J Hum Genet
Identification of CANT1 mutations in Desbuquois dysplasia.