AB
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders | Genetics in medicine |  | 2021 | 53 | 6 | ||
| Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms | Brain |  | 2020 | 365 | 1 | ||
| De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy | American Journal of Human Genetics | | 2020 | 204 | 0 | ||
| Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother | Journal of Human Genetics | | 2018 | 373 | 207 | ||
| Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU | Human Genetics | | 2017 | 368 | 1 | ||
| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | 2017 | 473 | 2 | ||
| Pectus excavatum et carinatum chez l'enfant et l'adolescent : que dire, que faire ? | Revue médicale de la Suisse romande | | 2017 | 456 | 6 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 631 | 207 | ||
| Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome | Molecular syndromology | | 2015 | 31 | 0 | ||
| Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding? | European journal of paediatric neurology | | 2015 | 593 | 0 | ||
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | 2014 | 631 | 4 | ||
| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | | 2014 | 575 | 0 | ||
| Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma | Child's nervous system | | 2013 | 657 | 351 | ||
| Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature | American journal of medical genetics. Part B, Neuropsychiatric genetics | | 2013 | 573 | 0 | ||
| Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation | European journal of pediatrics | | 2013 | 637 | 283 | ||
| Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? | European journal of medical genetics | | 2012 | 598 | 0 | ||
| Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report | Genetics in medicine | | 2011 | 566 | 2 | ||
| A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia | European journal of medical genetics | | 2011 | 649 | 0 | ||
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | | 2011 | 734 | 2 | ||
| De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features | Clinical genetics | | 2010 | 620 | 0 | ||
| Alexander disease: early presence of cerebral MRI criteria | European journal of paediatric neurology | | 2009 | 575 | 0 | ||
| Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 | European journal of human genetics | | 2009 | 663 | 0 | ||
| Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients | American journal of medical genetics. Part A | | 2008 | 610 | 0 | ||
| Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation | American journal of medical genetics. Part A | | 2007 | 558 | 0 | ||
| MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother | Brain & development | | 2007 | 514 | 0 | ||
| Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype | Journal of pediatric orthopedics | | 2007 | 558 | 0 | ||
| Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1 | American journal of medical genetics. Part A | | 2007 | 597 | 0 | ||
| Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1 | American journal of human genetics | | 2007 | 563 | 0 | ||
| Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case | Movement disorders | | 2007 | 554 | 0 | ||
| Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report | Journal of neurosurgery | | 2007 | 543 | 0 | ||
| Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis | American journal of medical genetics. Part A | | 2006 | 617 | 0 | ||
| Prenatal diagnostic indicators of paternal uniparental disomy 14 | Prenatal diagnosis | | 2006 | 473 | 0 | ||
| Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions | Journal of medical genetics | | 2006 | 616 | 0 | ||
| Comment investiguer une maladie musculaire? | Revue médicale de la Suisse romande | | 2003 | 528 | 0 | ||
| Early fatal pontocerebellar hypoplasia in premature twin sisters | European journal of paediatric neurology | | 2000 | 476 | 0 | ||
| Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family | European neurology | | 2000 | 473 | 0 | ||
| MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity | European journal of human genetics | | 1999 | 471 | 172 | ||
| Early-onset familial dilatation of the ascending aorta | Cardiology | | 1999 | 499 | 0 | ||
| The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations | American journal of human genetics | | 1999 | 534 | 0 | ||
| A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset | American journal of human genetics | | 1998 | 488 | 0 | ||
| Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) | American journal of human genetics | | 1997 | 543 | 0 | ||
| Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients | American journal of medical genetics | | 1997 | 564 | 0 | ||
| Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy | Nature | | 1997 | 596 | 0 |
