M. Rohrbach

发表

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

A. Hoischen, J. Veltman, B. Wirth, 2011, American journal of human genetics.

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

F. Sedel, W. Hwu, M. Patterson, 2009, Molecular genetics and metabolism.

Increase in left ventricular mass index and acroparesthesia incidence in children with Fabry disease correlates with their GLA mutation

U. Ramaswami, G. Pintos-Morell, A. Gal, 2013 .

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

A. Najafi, G. Mátyás, J. Meienberg, 2019, Clinical genetics.

Morbus Niemann-Pick Typ C

F. Ebinger, F. Rutsch, H. Klünemann, 2011, Monatsschrift Kinderheilkunde.

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

A. Palmer, D. Eide, Fudi Wang, 2012, Proceedings of the National Academy of Sciences.

Medical Treatment of Aortic Aneurysms in Marfan Syndrome and other Heritable Conditions

R. Weber, O. Kretschmar, G. Mátyás, 2014, Current cardiology reviews.

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

M. Baumgartner, A. Kariminejad, C. Marcelis, 2011, Orphanet journal of rare diseases.

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

L. Sangiorgi, M. Maioli, M. Bedeschi, 2017, Calcified Tissue International.

Brittle cornea syndrome: recognition, molecular diagnosis and management

J. Clayton-Smith, S. Smithson, F. Munier, 2013, Orphanet Journal of Rare Diseases.

Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.

R. Weber, J. Radulovic, G. Mátyás, 2020, Swiss medical weekly.

Treatment of Lysosomal Storage Disorders

J. Clarke, M. Rohrbach, 2012, Drugs.

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

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

Quantification of muscle pathology in infantile Pompe disease

T. Acker, W. Paulus, T. Marquardt, 2017, Neuromuscular Disorders.

Phenylketonuria and Hirschsprung Disease—A Report of an Unusual Neonatal Presentation

B. Thöny, R. Fingerhut, M. Huemer, 2017 .

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

M. Hersberger, L. Opitz, C. Langhans, 2021, Frontiers in Genetics.

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism

M. Baumgartner, M. Gautschi, M. Landolt, 2022, Molecular genetics and metabolism reports.

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

A. Palla, B. Plecko, P. Burda, 2014, Orphanet Journal of Rare Diseases.

Unexplained peripheral neuropathic pain and/or stroke

B. Schuknecht, A. Palla, F. Rodieux, 2016 .

FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome

C. Fauth, C. Giunta, M. Rohrbach, 2019 .

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

M. Baumgartner, N. Blau, B. Thöny, 2012, Molecular genetics and metabolism.

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

P. Lapunzina, D. Eyre, J. Caparrós-Martín, 2012, Human mutation.

W. Reardon, T. Mazza, L. Micale, 2019, Clinical genetics.

The 2017 international classification of the Ehlers–Danlos syndromes

J. Belmont, P. Byers, R. Grahame, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

C. Kim, M. Warman, P. Nürnberg, 2019, American journal of human genetics.

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

M. Baumgartner, A. Kariminejad, J. Häberle, 2011, Journal of Inherited Metabolic Disease.

Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

C. Giunta, M. Rohrbach, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

The Genetic Landscape and Epidemiology of Phenylketonuria.

V. Stoppioni, J. Vockley, B. Burton, 2020, American journal of human genetics.

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

D. Sillence, M. Baumgartner, A. Janecke, 2013, Molecular genetics and metabolism.

Diagnosis and Care of Infants and Children with Pompe Disease

T. Marquardt, M. Huemer, M. Rohrbach, 2020, Klinische Pädiatrie.

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

N. Karabul, T. Marquardt, R. Santer, 2015, JIMD reports.

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

M. Baumgartner, I. Scheer, R. Lauener, 2010, Journal of Inherited Metabolic Disease.

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

U. Ramaswami, N. Karabul, G. Pintos-Morell, 2016, BMC Ophthalmology.

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

L. Opitz, C. Giunta, M. Rohrbach, 2019, Genes.

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

F. Muntoni, C. Fauth, K. Rostásy, 2012, American journal of human genetics.

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

D. Eyre, T. Leeb, F. Seeliger, 2015, The Journal of Biological Chemistry.

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

D. Eyre, I. Kennerknecht, A. Janecke, 2016, Nature Communications.

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

C. Fauth, C. Bönnemann, J. Pilch, 2017, Genetics in Medicine.

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

M. Wiesmann, J. Weis, I. Kurth, 2017, Pediatric neurology.

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

K. Devriendt, M. Thiry, A. De Paepe, 2016, Genetics in Medicine.

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

C. Giunta, M. Rohrbach, E. Abdalla, 2014, European Journal of Pediatrics.

Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

D. Stull, I. Wiklund, U. Ramaswami, 2012, Health and Quality of Life Outcomes.

Treatment of lysosomal storage disorders : progress with enzyme replacement therapy.

J. Clarke, M. Rohrbach, 2007, Drugs.

The Ehlers–Danlos syndromes, rare types

N. Voermans, A. Brady, J. Zschocke, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

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

J. Clayton-Smith, L. Biesecker, Meredith Wilson, 2011, American journal of human genetics.

Revised recommendations for the management of Gaucher disease in children

P. Kaplan, H. Baris, M. Rocco, 2013, European Journal of Pediatrics.

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

Smita Y. Patel, R. Xavier, S. Kugathasan, 2016, Gut.

Epidemiology of mucopolysaccharidoses.

Marianne Rohrbach, Alfred Wiesbauer, Roberto Giugliani, 2017, Molecular genetics and metabolism.

A new COL3A1 mutation in Ehlers–Danlos syndrome type IV

F. Trautinger, C. Giunta, M. Rohrbach, 2013, Experimental dermatology.

Etiology of Carpal Tunnel Syndrome in a Large Cohort of Children

P. Broser, M. Rohrbach, J. Lütschg, 2021, Children.

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

Bernhard Steiner, K. Spanaus, A. Patrignani, 2010, European Journal of Human Genetics.

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

S. Feil, W. Berger, C. Gerth-Kahlert, 2021, Genes.

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

D. Nickerson, M. Dorschner, T. Meitinger, 2016, American journal of human genetics.

Mutations in FKBP 14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis , Myopathy , and Hearing Loss

F. Muntoni, C. Fauth, K. Rostásy, 2022 .

Gene in a Swiss Population of Asthmatic Children : No Association with E 237 G and Identification of New Sequence Variations

R. Kraemer, M. Rohrbach, S. Liechti‐Gallati, 2014 .

The novel missense mutation Met48Lys in FKBP22 changes its structure and functions

Y. Ishikawa, H. Bächinger, C. Giunta, 2020, Scientific Reports.

Cardiac disease in children and young adults with various lysosomal storage diseases: Comparison of echocardiographic and ECG changes among clinical groups

M. Baumgartner, R. Weber, E. V. Valsangiacomo Buechel, 2013, International journal of cardiology. Heart & vessels.

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

Robert W. Taylor, T. Meitinger, S. Seneca, 2015, Front. Genet..

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

D. Bratton, P. Cistulli, T. Gaisl, 2017, Thorax.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Raymond Dalgleish, Marianne Rohrbach, Fransiska Malfait, 2011, European Journal of Human Genetics.

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

M. Ritelli, N. Zoppi, M. Colombi, 2019, Genes.

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

P. Burda, P. Bode, M. Rohrbach, 2020, JIMD reports.

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

F. Sedel, W. Hwu, J. E. Wraith, 2009, Molecular genetics and metabolism.

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

M. Hersberger, M. Baumgartner, M. Gautschi, 2015, Clinical biochemistry.

Clinical , biochemical , and genetic spectrum of seven patients with NFU 1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2017 .

Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis

M. Landolt, M. Rohrbach, Susanne Wehrli, 2023, Orphanet Journal of Rare Diseases.

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

T. Hundsberger, K. Rösler, M. Rohrbach, 2013, Journal of Neurology.

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

N. Karabul, T. Hundsberger, M. Huemer, 2019, JIMD reports.

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

R. Wevers, S. Wortmann, E. Boltshauser, 2020, Genetics in Medicine.

Increased augmentation index in patients with Ehlers-Danlos syndrome

T. Gaisl, M. Kohler, M. Rohrbach, 2020, BMC Cardiovascular Disorders.

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

H. M. Geller, W. Gahl, G. Golas, 2016, American journal of medical genetics. Part A.

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

J. Ellison, J. Vockley, B. Powell, 2010, Molecular genetics and metabolism.

Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.

A. Gaspert, M. Rohrbach, G. Spartà, 2023, Pediatric nephrology.