A. Bottani

A. Bottani, A. Maret, S. Hanquinet, 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Marco Emilio Poleggi, S. Antonarakis, S. Gimelli, 2016, Human Genomics.

Clinical, Molecular, and Cytogenetic Survey of Potential Prader-Willi Syndrome Patients

A. Prader, W. Robinson, A. Bottani, 1992 .

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.

I. Krantz, M. Devoto, M. Hofreiter, 2001, American journal of medical genetics.

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome

W. Engel, M. Patel, A. Bottani, 1999, Journal of medical genetics.

Identification of mutations in TCOF1: Use of molecular analysis in the pre‐ and postnatal diagnosis of Treacher Collins syndrome

M. Dixon, A. Bottani, K. Temple, 2004, American journal of medical genetics. Part A.

Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma

P. Scolozzi, A. Bottani, B. Rilliet, 2013, Child's Nervous System.

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

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.

D. Rüfenacht, J. Delavelle, A. Bottani, 2007, Journal of neurosurgery.

No major contribution of the TGFBR1‐ and TGFBR2‐mediated pathway to Kabuki syndrome

B. Conrad, A. Toutain, I. Bouchardy, 2006, American journal of medical genetics. Part A.

Expanding the phenotype of fragile X‐associated tremor/ataxia syndrome: A new female case

J. Delavelle, A. Bottani, P. Burkhard, 2007, Movement disorders : official journal of the Movement Disorder Society.

Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?

C. Korff, L. Merlini, R. Dayer, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia with syndactyly.

G. Burg, R. Trüeb, A. Bottani, 1994, Journal of the American Academy of Dermatology.

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes.

A. Verloes, I. Temple, A. Bottani, 1997, American journal of medical genetics.

The cardio-facio-cutaneous syndrome: report of a patient and review of the literature

A. Bottani, A. Schinzel, I. Hammerer, 1991, European Journal of Pediatrics.

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?

S. Antonarakis, S. Gimelli, F. Béna, 2012, European journal of medical genetics.

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

I. Krantz, M. Bamshad, C. Morris, 2004, Nature Genetics.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients

Marie-Claude Addor, Michael A Morris, Jacques S Beckmann, 2008, American journal of medical genetics. Part A.

A de novo 1.1–1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features

F. Béna, B. Conrad, A. Bottani, 2007, American Journal of Medical Genetics. Part A.

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

V. Brouste, N. Sevenet, B. Gilbert-Dussardier, 2013, Journal of Medical Genetics.

Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.

A. Bottani, A. Schinzel, R. Seger, 1991, Journal of medical genetics.

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

A. Prader, W. Robinson, A. Bottani, 1991, American journal of human genetics.

Not All Floating‐Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP

A. Munnich, P. Nitschké, L. Faivre, 2013, Human mutation.

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

L. Vallée, M. Mattei, P. Jonveaux, 2003, Journal of medical genetics.

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

S. Antonarakis, S. Gimelli, F. Béna, 2014, Human mutation.

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

Periklis Makrythanasis, S. Antonarakis, S. Nikolaev, 2014, Genome research.

- Beuren syndrome patients with atypical segmental aneuploidies identify new Two high throughput technologies to detect

C. Howald, A. Reymond, S. Deutsch, 2006 .

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

C. Howald, A. Reymond, S. Antonarakis, 2005, Journal of Medical Genetics.

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

S. Antonarakis, S. Gimelli, Nelle Lambert, 2018, Journal of Human Genetics.

Prenatal diagnostic indicators of paternal uniparental disomy 14

A. Bottani, Y. Vial, M. le Merrer, 2006, Prenatal diagnosis.

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

F. Wright, M. Shriver, R. Moxley, 2003, American journal of human genetics.

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.

S. Antonarakis, S. Deutsch, S. Nath, 2007, American journal of human genetics.

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.

U. C. Patel, K. Grzeschik, S. Antonarakis, 1999, American journal of human genetics.

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients.

S. Antonarakis, C. Stoll, A. Bottani, 1997, American journal of medical genetics.

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

S. Antonarakis, S. Deutsch, S. Nath, 2006, American journal of medical genetics. Part A.

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

S. Cheung, K. Devriendt, S. Gimelli, 2009, Journal of Medical Genetics.

a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein

S. Cheung, K. Devriendt, S. Gimelli, 2022 .

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Edward S. Miller, T. Blundell, M. van der Burg, 2015, American journal of human genetics.

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features

S. Gimelli, F. Béna, P. Makrythanasis, 2010, Clinical genetics.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

S. Antonarakis, S. Gimelli, F. Béna, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

S. Gimelli, A. Mauron, F. Santoni, 2016, Human Genomics.

A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus

A. Bottani, A. Schinzel, F. Binkert, 1991, Human Genetics.

Can hair be used to screen for breast cancer?

A. Bottani, S. Bordin, J. P. Vasconcellos, 2000, Journal of medical genetics.

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

J. Chrast, A. Reymond, Z. Kutalik, 2022, npj Genomic Medicine.

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

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

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

D. Goldstein, K. Roche, J. Baptista, 2021, Genetics in Medicine.

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

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

Beat Steinmann, Gábor Mátyás, Marie-Claude Addor, 2009, Human mutation.

Sequence variation in ultraconserved and highly conserved elements does not cause X‐linked mental retardation

S. Antonarakis, B. Conrad, M. Barker, 2007, American journal of medical genetics. Part A.

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother

S. Antonarakis, M. Morris, I. Bouchardy, 2007, Brain and Development.

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.

S. Gimelli, F. Béna, P. Makrythanasis, 2011, European Journal of Medical Genetics.

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

A. Verloes, A. Bottani, A. David, 1995, Journal of medical genetics.

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.

S. Antonarakis, C. Buresi, A. Malafosse, 1998, American journal of human genetics.

Caroli disease , bilateral diffuse cystic renal dysplasia , situs inversus , postaxial polydactyly , and preauricular fistulas : a ciliopathy caused by a homozygous NPHP 3 mutation CALINESCU-TULEASCA

M. Gubler, A. Rougemont, P. Majno, 2018 .

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation

M. Gubler, A. Rougemont, P. Majno, 2013, European Journal of Pediatrics.

Alexander disease: early presence of cerebral MRI criteria.

C. Korff, J. Delavelle, M. S. van der Knaap, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

On the inheritance of Harlequin ichthyosis

A. Bottani, 1994, Prenatal Diagnosis.

Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)

M. Fromer, D. Schorderet, P. Jeannet, 2005, Neuromuscular Disorders.

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

K. Grzeschik, A. Buness, F. Kortüm, 2020, American journal of human genetics.

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

S. Antonarakis, C. Korff, M. Pittet, 2017, American journal of medical genetics. Part A.

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

S. Haas, E. Leshinsky‐Silver, M. Skopkova, 2018, Yearbook of Paediatric Endocrinology.

Myhre-GOMBO syndrome: possible lumping of two "old" new syndromes.

A. Verloes, A. Bottani, 1995, American journal of medical genetics.