Bottani, Armand | Archive ouverte UNIGE

Breakdown by access level

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Access level
Public access	6
Restricted access	37

Distribution by access level (last 10 years)

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Access level	Public access	Restricted access	Closed access	No fulltext
2017		3
2018	1
2019
2020		2
2021	1
2022
2023
2024
2025
2026

Distribution according to UNIGE OA policy

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Open access policy	Open Access	Still embargoed	Not Open Access
	6		37

List of publications by Bottani, Armand

1 - 43 of 43

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	123	313
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms	Brain			2020	474	1
De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy	American Journal of Human Genetics			2020	278	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	470	611
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU	Human Genetics			2017	459	1
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy	American Journal of Medical Genetics. A			2017	556	2
Pectus excavatum et carinatum chez l'enfant et l'adolescent : que dire, que faire ?	Revue médicale de la Suisse romande			2017	553	6
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders	Human genomics			2016	756	371
Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome	Molecular syndromology			2015	78	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	685	0
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families	Human mutation			2014	711	4
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster	Genome research			2014	679	0
Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma	Child's nervous system			2013	751	518
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	652	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	728	377
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	693	0
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report	Genetics in medicine			2011	672	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	739	0
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus	Nature			2011	821	2
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features	Clinical genetics			2010	695	0
Alexander disease: early presence of cerebral MRI criteria	European journal of paediatric neurology			2009	655	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	754	0
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients	American journal of medical genetics. Part A			2008	691	0
Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation	American journal of medical genetics. Part A			2007	654	0
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother	Brain & development			2007	594	0
Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype	Journal of pediatric orthopedics			2007	642	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	709	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	673	0
Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case	Movement disorders			2007	618	0
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report	Journal of neurosurgery			2007	625	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	704	0
Prenatal diagnostic indicators of paternal uniparental disomy 14	Prenatal diagnosis			2006	549	0
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions	Journal of medical genetics			2006	710	0
Comment investiguer une maladie musculaire?	Revue médicale de la Suisse romande			2003	611	0
Early fatal pontocerebellar hypoplasia in premature twin sisters	European journal of paediatric neurology			2000	543	0
Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family	European neurology			2000	549	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	534	214
Early-onset familial dilatation of the ascending aorta	Cardiology			1999	547	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	623	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	565	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	620	0
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients	American journal of medical genetics			1997	670	0
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy	Nature			1997	674	0