Armand Bottani

Geneve, GE, Switzerland

Last Updated: 09/26/2026

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Found 23 publications

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
Published: May 29, 2023

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Journal: American journal of human genetics
Published: November 24, 2021

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

Journal: Clinical genetics
Published: January 20, 2021

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 14, 2021

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

Journal: American journal of human genetics
Published: March 27, 2020

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

Journal: American journal of human genetics
Published: January 22, 2020

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

Journal: Brain : a journal of neurology
Published: May 23, 2019

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Journal: JAMA neurology
Published: January 23, 2018

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.

Journal: Journal of human genetics
Published: January 12, 2018

Pectus excavatumn and carinatum in children and adolescents : what to say, what to do ?

Pectus excavatumn and carinatum in children and adolescents : what to say, what to do ?

Journal: Revue medicale suisse
Published: July 18, 2017

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Journal: Human genetics
Published: January 16, 2017

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

Journal: American journal of medical genetics. Part A
Published: December 30, 2016
Showing 1-12 of 23

Last Updated: 09/26/2026