L. Bonafė

P. Beighton, Y. Gillerot, N. Elçioglu, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

D. Karall, A. Superti-Furga, E. Steichen‐Gersdorf, 2016, Scientific Reports.

Mutation in MMP2 gene may result in scleroderma-like skin thickening

C. Bodemer, B. Bader-Meunier, L. Bonafė, 2015, Annals of the rheumatic diseases.

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene

S. Ozen, L. Bonafė, Y. Alanay, 2010, European Journal of Pediatrics.

Torg Syndrome Is Caused by Inactivating Mutations in MMP2 and Is Allelic to NAO and Winchester Syndrome

D. Fishman, A. Poznanski, A. Zankl, 2006, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in the CHST14 gene

D. Chitayat, S. Blaser, A. Howard, 2012, American journal of medical genetics. Part A.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment

A. Suppiej, F. Zacchello, A. Burlina, 2000, Journal of Inherited Metabolic Disease.

Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.

E. Bertini, R. Carrozzo, A. D’Amico, 2014, Molecular genetics and metabolism.

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome

E. Dikoglu, A. Superti-Furga, L. Bonafė, 2013, American journal of medical genetics. Part A.

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

J. Martignetti, H. Kayserili, A. Difeo, 2003, American journal of human genetics.

Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-β-synthase deficiency

P. Michel, L. Bonafė, A. Angelillo-Scherrer, 2010, Thrombosis and Haemostasis.

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

E. Boltshauser, A. Superti-Furga, L. Bonafė, 2006, American journal of medical genetics. Part A.

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

O. Boulat, A. Superti-Furga, C. Jakobs, 2009, European Journal of Pediatrics.

Current Care and Investigational Therapies in Achondroplasia

L. Bonafė, S. Unger, E. Gouze, 2017, Current Osteoporosis Reports.

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Brian J. Stevenson, J. Beckmann, G. Superti-Furga, 2014, American journal of medical genetics. Part A.

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2

V. Calcaterra, A. Zankl, M. Rocco, 2005, Clinical genetics.

The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.

O. Braissant, L. Bonafė, P. Jafari, 2011, Molecular genetics and metabolism.

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

G. Mortier, A. Mégarbané, R. Scott, 2011, American journal of human genetics.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Dian Donnai, Sheila Unger, Andrea Superti-Furga, 2016, Nature Genetics.

Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism.

F. Zacchello, L. Bonafė, A. Burlina, 1999, Seminars in perinatology.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

Brian J. Stevenson, G. Superti-Furga, C. Ross, 2017, Nature genetics.

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

R. Hennekam, K. Girisha, S. Nampoothiri, 2014, American journal of medical genetics. Part A.

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

C. Cancrini, A. Nordgren, M. Irving, 2021, American journal of medical genetics. Part A.

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

S. Mundlos, M. Spielmann, C. Rivolta, 2021, Nature.

Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations

A. Reymond, E. Dermitzakis, C. Ucla, 2005, PLoS genetics.

Molecular-pathogenetic classification of genetic disorders of the skeleton.

D. Rimoin, A. Superti-Furga, L. Bonafė, 2001, American journal of medical genetics.

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

G. Superti-Furga, C. Rivolta, E. Dikoglu, 2015, Scientific Reports.

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Andrea Superti-Furga, Sebastian Wachsmann-Hogiu, Judith Allanson, 2004, Nature Genetics.

Mutations in FLNB cause boomerang dysplasia

S. Robertson, M. Bialer, D. Krakow, 2005, Journal of Medical Genetics.

Disease‐causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE‐2 and antisense Alu lacking the poly(T)‐tail

Laura Fiori, Nenad Blau, Igor Vorechovsky, 2009, Human mutation.

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

L. Sangiorgi, L. Boccone, B. Zabel, 2008, American journal of human genetics.

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

A. Janecke, M. Bros, C. Hübner, 2011, Nature Genetics.

Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly.

G. Pruijn, H. Heus, N. V. van Doorn, 2008, Biochimica et biophysica acta.

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

R. Bank, A. Zankl, A. Superti-Furga, 2004, American Journal of Medical Genetics. Part A.

Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.

L. Bonafė, D. Martinet, A. Campos-Xavier, 2013, European journal of medical genetics.

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

J. Beckmann, O. Ohara, T. Hirano, 2008, PLoS ONE.

Type I hyperprolinemia: genotype/phenotype correlations

D. Valle, D. Campion, A. Afenjar, 2010, Human mutation.

Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual

C. Beigelman-Aubry, A. Superti-Furga, L. Bonafė, 2018, Journal of Bone and Mineral Metabolism.

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

D. Sillence, S. Robertson, A. Mégarbané, 2010, American journal of medical genetics. Part A.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

G. Mortier, A. Zankl, B. Zabel, 2007, European Journal of Human Genetics.

Whole‐exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria (MC‐HGA)

Sheila Unger, Andrea Superti-Furga, Ahmet Dursun, 2011, American journal of medical genetics. Part A.

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

L. Vissers, J. Veltman, H. Brunner, 2011, American journal of human genetics.

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

Sheila Unger, Andrea Superti-Furga, Brian J. Stevenson, 2015, American journal of medical genetics. Part A.

RMRP gene sequence analysis confirms a cartilage‐hair hypoplasia variant with only skeletal manifestations and reveals a high density of single‐nucleotide polymorphisms

A. Superti-Furga, L. Bonafė, A. Giedion, 2002, Clinical genetics.

FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Brian J. Stevenson, G. Superti-Furga, S. Pradervand, 2013, American journal of human genetics.

Phenotypic and Molecular Characterization of Bruck Syndrome ( Osteogenesis Imperfecta With Contractures of the Large Joints ) Caused by a Recessive Mutation in PLOD 2

R. Bank, A. Zankl, A. Superti-Furga, 2004 .

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati–Engelmann disease: A single case observation

E. Dikoglu, A. Superti-Furga, L. Bonafė, 2014, American journal of medical genetics. Part A.

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

S. Gallati, A. Schaller, A. Haeberli, 2016, European Journal of Pediatrics.

Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.

M. Berger, L. Bonafė, C. Tran, 2017, Clinical nutrition.

Inborn Errors of Metabolism in Adults: Clues for Nutritional Management in ICU

L. Bonafė, C. Tran, 2018 .

Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant

L. Bonafė, D. Ballhausen, M. Bickle-Graz, 2011, Pediatric reports.

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

J. Seidman, M. Vikkula, I. Holm, 2011, PLoS genetics.

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome

Brian J. Stevenson, A. Reymond, G. Superti-Furga, 2015, American journal of medical genetics. Part A.

Carnitine deficiency in chronic critical illness

M. Berger, J. Mechanick, Y. Que, 2014, Current opinion in clinical nutrition and metabolic care.

Report of a novel mutation in the SLC26A2 gene found in a Colombian adult patient with diastrophic dysplasia

A. Superti-Furga, L. Bonafė, H. Velasco, 2013 .

Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors

N. Guex, J. Martignetti, L. Abrami, 2011, EMBO molecular medicine.

DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot)

S. Blanton, C. Wise, J. Hecht, 2002, Journal of medical genetics.

Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation

A. Superti-Furga, L. Bonafė, A. Dursun, 2005, Clinical dysmorphology.

When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

C. Korff, J. Fluss, L. Bonafė, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A Multicenter Study on Incidence and Fatality Rates of Neonatal Acute Respiratory Disorders According to Gestational Age, Maternal Age, Pregnancy Complications and Type of Delivery

C. Dani, L. Bonafė, M. Tangucci, 1998 .

Ammonium Accumulation and Cell Death in a Rat 3D Brain Cell Model of Glutaric Aciduria Type I

H. Henry, O. Braissant, L. Bonafė, 2013, PloS one.

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures

H. Henry, O. Braissant, L. Bonafė, 2013, Orphanet Journal of Rare Diseases.

Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain

O. Boulat, O. Braissant, L. Bonafė, 2009, Neuroscience.

Glut‐1 deficiency syndrome masquerading  as idiopathic generalized epilepsy

M. Maeder-Ingvar, L. Bonafė, É. Roulet-Perez, 2008, Epilepsia.

Osteogenesis imperfecta: towards an individualised interdisciplinary care strategy to improve physical activity and quality of life.

P. Schneider, D. Hans, L. Bonafė, 2020, Swiss medical weekly.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

D. Chitayat, N. Matsumoto, Hironori Ito, 2013, American journal of human genetics.

Mitochondrial tRNALeu(UUR) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

A. Schaller, P. Jeannet, S. Jacquemont, 2010, Journal of Inherited Metabolic Disease.

An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study

D. Zafeiriou, J. Celli, J. D. den Dunnen, 2010, Human mutation.

Early neurological impairment and severe anemia in a newborn with Pearson syndrome

R. Meuli, S. Jacquemont, L. Bonafė, 2009, European Journal of Pediatrics.

Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?

L. Tappy, N. Paquot, F. Debray, 2018, The American journal of clinical nutrition.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

Alyssa A. Tran, R. Gibbs, Mahim Jain, 2016, American journal of medical genetics. Part A.

Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.

A. Superti-Furga, L. Bonafė, L. Bobadilla-Morales, 2022, Clinical dysmorphology.

[News in osteogenesis imperfecta: from research to clinical management].

L. Bonafė, S. Unger, P. Scheider, 2015, Revue medicale suisse.

Identification of potential non-invasive biomarkers in diastrophic dysplasia.

C. Ferreira, A. Zankl, Ricki S. Carroll, 2023, Bone.

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia

A. de la Chapelle, A. Superti-Furga, L. Bonafė, 2008, Journal of Medical Genetics.

Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency.

L. Bonafė, K. Oexle, B. Steinmann, 2002, Molecular genetics and metabolism.

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

B. Hamel, G. Bellus, W. Cole, 2003, Journal of medical genetics.

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.

M. Baumgartner, N. Blau, B. Thöny, 2005, Molecular genetics and metabolism.

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

R. Hennekam, K. Girisha, S. Nampoothiri, 2014, American journal of medical genetics. Part A.

Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations

A. Reymond, E. Dermitzakis, C. Ucla, 2005, PLoS genetics.