List of works - Clarisse Baumann

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

scientific article published on 19 January 2013

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

scientific article published on 29 October 2008

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region

scientific article published on 17 May 2006

A long-term competent chimeric immune system in a dizygotic dichorionic twin

scientific article published on 11 July 2011

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

scientific article

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

scientific article published on 9 January 2013

Abnormal abdominal situs: what and how should we look for?

scientific article published on 01 March 2006

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient

Additional clinical and molecular analyses ofTFAP2Ain patients with the branchio-oculo-facial syndrome

Aphallia, lung agenesis and multiple defects of blastogenesis

scientific article published in January 2011

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

scientific article published on 06 August 2012

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype

scientific article

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

scientific article published in June 2006

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases

scientific article published on 26 August 2006

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

scientific article

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome

scientific article published on 5 August 2013

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

scientific article published on 25 March 2013

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

scientific article

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

scientific article

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

scientific article published on 28 June 2014

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

scientific article published on 7 August 2012

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

scientific article published on 19 February 2018

Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

scientific article

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

scientific article published on 08 January 2019

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases

scientific article published on 12 November 2013

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

scientific article published on December 2012

Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation

scientific article published in June 2004

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

scholarly article

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

scientific article

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

scientific article published on 13 March 2017

Finger creases lend a hand in Kabuki syndrome.

scientific article

Further delineation of Kabuki syndrome in 48 well-defined new individuals

scientific article published in January 2005

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

scientific article

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

scientific article published on 30 September 2003

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

scientific article published in June 2005

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

scientific article

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?

scientific article published in August 2005

Growth charts in Kabuki syndrome 1

scientific article published on 26 December 2019

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

article

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

article

High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis.

scientific article

Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs

scientific article published in July 2008

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

article

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

scientific article

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

scientific article published on 5 November 2014

Juvenile myelomonocytic leukaemia and Noonan syndrome.

scientific article published on 5 August 2014

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

scientific article published on 30 September 2015

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

scientific article

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

scientific article published in June 2017

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

scientific article published in January 2010

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

scientific article published on 30 August 2010

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

scientific article published on 21 March 2013

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

scientific article published in July 2016

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

scientific article

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

scientific article published on 13 January 2016

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

scientific article

Mutations in two regions of FLNB result in atelosteogenesis I and III.

scientific article published in July 2006

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

scientific article

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

scientific article published on 16 June 2005

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

scientific article published on 28 January 2014

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals

scientific article

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

scientific article published on 18 January 2012

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

scientific article published on 19 May 2016

Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome

scientific article

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

scientific article published on 01 July 2008

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

scientific article published on 8 December 2010

Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

scientific article published on 01 March 2005

Prenatal findings in cardio-facio-cutaneous syndrome

scientific article published on 22 October 2015

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

scientific article published on 25 February 2015

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

scientific article (publication date: August 2002)

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations

scientific article

Severely delayed epiphyseal ossification dysplasia with normal stature

scientific article published on 01 August 2003

Should chromosome breakage studies be performed in patients with VACTERL association?

article

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

scientific article

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

scientific article

Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae

scientific article published in December 2002

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

scientific article

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene

scientific article

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

scientific article published in May 2005

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

scientific article published on 01 November 2010

[Recommendations for the medical management of aortic complications of Marfan's syndrome]

scientific article published on 01 May 2006

List of works by Clarisse Baumann

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region

A long-term competent chimeric immune system in a dizygotic dichorionic twin

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

Abnormal abdominal situs: what and how should we look for?

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient

Additional clinical and molecular analyses ofTFAP2Ain patients with the branchio-oculo-facial syndrome

Aphallia, lung agenesis and multiple defects of blastogenesis

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

Finger creases lend a hand in Kabuki syndrome.

Further delineation of Kabuki syndrome in 48 well-defined new individuals

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?

Growth charts in Kabuki syndrome 1

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis.

Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Juvenile myelomonocytic leukaemia and Noonan syndrome.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

New insights into genotype-phenotype correlation for GLI3 mutations

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

Prenatal findings in cardio-facio-cutaneous syndrome

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations

Severely delayed epiphyseal ossification dysplasia with normal stature

Should chromosome breakage studies be performed in patients with VACTERL association?

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification