List of works - Marianne Rohrbach

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

scientific article published on 15 June 2017

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.

scientific article

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

scientific article published on 21 January 2015

A variant in the gene for GM-CSF, I117T, is associated with atopic asthma in a Swiss population of asthmatic children

scientific article published on 01 July 1999

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

scientific article published on 26 September 2019

Brittle cornea syndrome: recognition, molecular diagnosis and management

scientific article published on 4 May 2013

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

scientific article published on 12 December 2019

CRIM-negative infantile Pompe disease: 42-month treatment outcome.

scientific article published on 30 September 2010

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

scientific article

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

scientific article published on 25 October 2019

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

scientific article

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

scientific article published on 13 April 2011

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

scientific article

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

scientific article

Epidemiology of mucopolysaccharidoses.

scientific article published on 26 May 2017

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

scientific article

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

scientific article published on 14 January 2016

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

scientific article published on 17 July 2019

FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

scientific article

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

scientific article

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

scientific article published on 7 March 2016

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.

scientific article published on 3 November 2017

Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence

scientific article published on 25 March 2009

Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?

scientific article published on 06 October 2020

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

scientific article published on 3 October 2014

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases

scientific article published on 25 March 2015

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

scientific article published on 06 July 2016

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

scientific article published on 4 August 2009

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

scientific article published on 24 May 2015

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

scientific article

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

scientific article published in August 2011

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

scientific article

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

scientific article

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome

scientific article published on 28 November 2018

Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.

scientific article published on 10 January 2017

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

scientific article

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

scientific article published on 27 September 2016

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

scientific article

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

scientific article

Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging

scientific article published on 27 November 2006

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.

scientific article

Quantification of muscle pathology in infantile Pompe disease.

scientific article

Revised recommendations for the management of Gaucher disease in children

scientific article

Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease

scientific article

The 2017 international classification of the Ehlers-Danlos syndromes

scientific article published on March 2017

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

scientific article published on 16 September 2015

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome

scientific article published on 08 July 2019

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

scientific article

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

scientific article published on 01 October 2019

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

scientific article published on 06 January 2021

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

scientific article published on 26 April 2013

List of works by Marianne Rohrbach

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A variant in the gene for GM-CSF, I117T, is associated with atopic asthma in a Swiss population of asthmatic children

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Brittle cornea syndrome: recognition, molecular diagnosis and management

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

CRIM-negative infantile Pompe disease: 42-month treatment outcome.

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

Epidemiology of mucopolysaccharidoses.

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.

Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence

Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome

Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.

Quantification of muscle pathology in infantile Pompe disease.

Revised recommendations for the management of Gaucher disease in children

Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease

The 2017 international classification of the Ehlers-Danlos syndromes

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.