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| 33964207 | A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. | Am J Hum Genet | 2021 |
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| 32181939 | Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta. | Journal of Bone and Mineral Research | 2020 |
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| 31816441 | A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy. | European Journal of Medical Genetics | 2020 |
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| 30251283 | Contribution of three-dimensional ultrasound and three-dimensional helical computed tomography to prenatal diagnosis of Stickler syndrome. | Ultrasound in Obstetrics and Gynecology | 2019 |
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| 31237352 | Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review. | Clinical Genetics | 2019 |
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| 29358272 | <i>FAM46A</i> mutations are responsible for autosomal recessive osteogenesis imperfecta. | J Med Genet | 2018 |
| 30450712 | A retrospective study on sleep-disordered breathing in Morquio-A syndrome. | American Journal of Medical Genetics, Part A | 2018 |
| 30533527 | Delineating syndrome: From congenital microcephaly to hyperkinetic encephalopathy. | Neurology: Genetics | 2018 |
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| 29223973 | Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences. | Journal of Medical Genetics | 2018 |
| 29316359 | Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1. | Birth Defects Research | 2018 |
| 29405783 | Identification of PITX3 mutations in individuals with various ocular developmental defects. | Ophthalmic Genet | 2018 |
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