| Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders | Genetics in medicine | | | 2021 | 117 | 257 |
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| Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms | Brain | | | 2020 | 469 | 1 |
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| De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy | American Journal of Human Genetics | | | 2020 | 273 | 0 |
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| 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 | 464 | 557 |
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| Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU | Human Genetics | | | 2017 | 452 | 1 |
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| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | | 2017 | 551 | 2 |
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| Pectus excavatum et carinatum chez l'enfant et l'adolescent : que dire, que faire ? | Revue médicale de la Suisse romande | | | 2017 | 547 | 6 |
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| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 749 | 354 |
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| Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome | Molecular syndromology | | | 2015 | 73 | 0 |
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| 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 | 678 | 0 |
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| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | | 2014 | 704 | 4 |
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| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | | | 2014 | 671 | 0 |
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| Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma | Child's nervous system | | | 2013 | 744 | 493 |
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| 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 | 644 | 0 |
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| 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 | 721 | 355 |
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| 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 | 686 | 0 |
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| Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report | Genetics in medicine | | | 2011 | 665 | 2 |
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| A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia | European journal of medical genetics | | | 2011 | 732 | 0 |
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| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | | | 2011 | 813 | 2 |
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| De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features | Clinical genetics | | | 2010 | 688 | 0 |
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| Alexander disease: early presence of cerebral MRI criteria | European journal of paediatric neurology | | | 2009 | 648 | 0 |
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| 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 | 747 | 0 |
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| Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients | American journal of medical genetics. Part A | | | 2008 | 684 | 0 |
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| Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation | American journal of medical genetics. Part A | | | 2007 | 647 | 0 |
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| MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother | Brain & development | | | 2007 | 585 | 0 |
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| Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype | Journal of pediatric orthopedics | | | 2007 | 635 | 0 |
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| 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 | 701 | 0 |
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| 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 | 666 | 0 |
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| Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case | Movement disorders | | | 2007 | 611 | 0 |
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| Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report | Journal of neurosurgery | | | 2007 | 618 | 0 |
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| 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 | 697 | 0 |
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| Prenatal diagnostic indicators of paternal uniparental disomy 14 | Prenatal diagnosis | | | 2006 | 542 | 0 |
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| Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions | Journal of medical genetics | | | 2006 | 703 | 0 |
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| Comment investiguer une maladie musculaire? | Revue médicale de la Suisse romande | | | 2003 | 603 | 0 |
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| Early fatal pontocerebellar hypoplasia in premature twin sisters | European journal of paediatric neurology | | | 2000 | 536 | 0 |
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| Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family | European neurology | | | 2000 | 542 | 0 |
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| 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 | 527 | 207 |
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| Early-onset familial dilatation of the ascending aorta | Cardiology | | | 1999 | 539 | 0 |
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| 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 | 616 | 0 |
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| 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 | 557 | 0 |
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| 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 | 613 | 0 |
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| Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients | American journal of medical genetics | | | 1997 | 663 | 0 |
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| Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy | Nature | | | 1997 | 666 | 0 |
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