Michela Barbaro

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Articles

Article: NPJ PARKINSON'S DISEASE. 2024;10(1):93
PARKIN is not required to sustain OXPHOS function in adult mammalian tissues
Filograna R; Gerlach J; Choi H-N; Rigoni G; Barbaro M; Oscarson M; Lee S; Tiklova K; Ringner M; Koolmeister C; Wibom R; Riggare S; Nennesmo I; Perlmann T; Wredenberg A; Wedell A; Motori E; Svenningsson P; Larsson N-G
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2023;110(10):1769-1786
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
van Loggerenberg W; Sowlati-Hashjin S; Weile J; Hamilton R; Chawla A; Sheykhkarimli D; Gebbia M; Kishore N; Fresard L; Mustajoki S; Pischik E; Di Pierro E; Barbaro M; Floderus Y; Schmitt C; Gouya L; Colavin A; Nussbaum R; Friesema ECH; Kauppinen R; To-Figueras J; Aarsand AK; Desnick RJ; Garton M; Roth FP
Article: JIMD REPORTS. 2022;63(2):181-190
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.
Olsson D; Barbaro M; Haglind C; Halldin M; Lajic S; Tucci S; Zetterström RH; Nordenström A
Article: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2021;7(3):59
First Year of TREC-Based National SCID Screening in Sweden
Gongrich C; Ekwall O; Sundin M; Brodszki N; Fasth A; Marits P; Dysting S; Jonsson S; Barbaro M; Wedell A; von Dobeln U; Zetterstrom RH
Article: GENOME MEDICINE. 2021;13(1):40
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: EPILEPSIA. 2020;61(11):2486-2499
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study
Stodberg T; Tomson T; Barbaro M; Stranneheim H; Anderlid B-M; Carlsson S; Amark P; Wedell A
Article: JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY. 2020;201:105699
Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia
Karlsson L; Barbaro M; Ewing E; Gomez-Cabrero D; Lajic S
Article: CLINICAL BIOCHEMISTRY. 2019;73:50-56
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia
Karlsson L; Michelatto DDP; Gori Lusa AL; Mgnani Silva CD; Ostberg LJ; Persson B; Guerra-Junior G; Valente de Lemos-Marini SH; Baldazzi L; Menabo S; Balsamo A; Greggio NA; de Mello MP; Barbaro M; Lajic S
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e654
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
Maffezzini C; Laine I; Dallabona C; Clemente P; Calvo-Garrido J; Wibom R; Naess K; Barbaro M; Falk A; Donnini C; Freyer C; Wredenberg A; Wedell A
Article: JOURNAL OF THE ENDOCRINE SOCIETY. 2019;3(1):250-263
Epigenetic Alterations Associated With Early Prenatal Dexamethasone Treatment
Karlsson L; Barbaro M; Ewing E; Gomez-Cabrero D; Lajic S
Article: JOURNAL OF CLINICAL IMMUNOLOGY. 2017;37(1):51-60
Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study
Barbaro M; Ohlsson A; Borte S; Jonsson S; Zetterstrom RH; King J; Winiarski J; von Dobeln U; Hammarstrom L
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2016;20(3):457-461
Biotin and Thiamine Responsive Basal Ganglia Disease - A vital differential diagnosis in infants with severe encephalopathy
Ygberg S; Naess K; Eriksson M; Stranneheim H; Lesko N; Barbaro M; Wibom R; Wang C; Wedell A; Wickstrom R
Article: INTERNATIONAL JOURNAL OF ENDOCRINOLOGY. 2016;2016:4209670-10
Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects
Michelatto DDP; Karlsson L; Gori Lusa AL; Mgnani Silva CD; Ostberg LJ; Persson B; Guerra-Junior G; Valente de Lemos-Marini SH; Barbaro M; de Mello MP; Lajic S
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(11):779-783
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid
Freyer C; Stranneheim H; Naess K; Mourier A; Felser A; Maffezzini C; Lesko N; Bruhn H; Engvall M; Wibom R; Barbaro M; Hinze Y; Magnusson M; Andeer R; Zetterstrom RH; von Dobeln U; Wredenberg A; Wedell A
Article: CLINICAL ENDOCRINOLOGY. 2015;82(1):37-44
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia
Barbaro M; Soardi FC; Ostberg LJ; Persson B; de Mello MP; Wedell A; Lajic S
Article: BMC GENOMICS. 2014;15(1):1090
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
Stranneheim H; Engvall M; Naess K; Lesko N; Larsson P; Dahlberg M; Andeer R; Wredenberg A; Freyer C; Barbaro M; Bruhn H; Emahazion T; Magnusson M; Wibom R; Zetterstrom RH; Wirta V; von Dobeln U; Wedell A
Article: HUMAN REPRODUCTION. 2014;29(8):1818-1827
Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform
Norling A; Hirschberg AL; Rodriguez-Wallberg KA; Iwarsson E; Wedell A; Barbaro M
Article: SEXUAL DEVELOPMENT. 2014;8(4):146-150
No Mutations in the PSMC3IP Gene Identified in a Swedish Cohort of Women with Primary Ovarian Insufficiency
Norling A; Hirschberg AL; Karlsson L; Rodriguez-Wallberg KA; Iwarsson E; Wedell A; Barbaro M
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2013;56(12):661-668
Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform
Norling A; Hirschberg AL; Iwarsson E; Persson B; Wedell A; Barbaro M
Article: FERTILITY AND STERILITY. 2013;99(3):819-826.e3
CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development
Norling A; Hirschberg AL; Iwarsson E; Wedell A; Barbaro M
Article: ORPHANET JOURNAL OF RARE DISEASES. 2013;8:13
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria
Barbaro M; Kotajarvi M; Harper P; Floderus Y
Article: CLINICAL GENETICS. 2012;81(3):249-256
Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria
Barbaro M; Kotajarvi M; Harper P; Floderus Y
Article: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. 2012;35(3):298-305
A sequence variation in 3′UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia
Menabo S; Balsamo A; Baldazzi L; Barbaro M; Nicoletti A; Conti V; Pirazzoli P; Wedell A; Cicognani A
Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY (EJE). 2012;166(2):341-349
Pubertal androgenization and gonadal histology in two 46, XY adolescents with NR5A1 mutations and predominantly female phenotype at birth
Cools M; Hoebeke P; Wolffenbuttel KP; Stoop H; Hersmus R; Barbaro M; Wedell A; Bruggenwirth H; Looijenga LHJ; Drop SLS
Article: JIMD REPORTS. 2012;4:67-73
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.
Naess K; Barbaro M; Bruhn H; Wibom R; Nennesmo I; von Döbeln U; Larsson N-G; Nemeth A; Lesko N
Article: HORMONE RESEARCH IN PAEDIATRICS. 2012;77(2):100-107
Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1 (DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia
Barbaro M; Bens S; Haake A; Peter M; Braemswig J; Holterhus P-M; Pedro Lopez-Siguero J; Menken U; Mix M; Sippell WG; Wedell A; Riepe FG
Article: INTERNATIONAL JOURNAL OF ENDOCRINOLOGY. 2012;2012:504904-7
Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis
Barbaro M; Cook J; Lagerstedt-Robinson K; Wedell A
Article: SEMINARS IN FETAL AND NEONATAL MEDICINE. 2011;16(2):119-127
Disorders of sex development
Barbaro M; Wedell A; Nordenstrom A
Article: SEXUAL DEVELOPMENT. 2011;5(4):181-187
Partial Deletion of the NR5A1 (SF1) Gene Detected by Synthetic Probe MLPA in a Patient with XY Gonadal Disorder of Sex Development
Barbaro M; Cools M; Looijenga LHJ; Drop SLS; Wedell A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2009;17(11):1439-1447
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA
Barbaro M; Balsamo A; Anderlid BM; Myhre AG; Gennari M; Nicoletti A; Pittalis MC; Oscarson M; Wedell A
Article: NEW ENGLAND JOURNAL OF MEDICINE. 2009;361(5):489-495
AGC1 Deficiency Associated with Global Cerebral Hypomyelination
Wibom R; Lasorsa FM; Tohonen V; Barbaro M; Sterky FH; Kucinski T; Naess K; Jonsson M; Pierri CL; Palmieri F; Wedell A
Article: ENDOCRINE-RELATED CANCER. 2008;15(3):801-815
Array-CGH identifies cyclin D1 and UBCH10 amplicons in anaplastic thyroid carcinoma
Lee J-J; Au AYM; Foukakis T; Barbaro M; Kiss N; Clifton-Bligh R; Staaf J; Borg A; Delbridge L; Robinson BG; Wallin G; Hoog A; Larsson C
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2008;16(7):786-792
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics:: a validation of the practical performance of different array platforms
Zhang Z-F; Ruivenkamp C; Staaf J; Zhu H; Barbaro M; Petillo D; Khoo SK; Borg A; Fan Y-S; Schoumans J
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2008;93(6):2416-2420
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients
Soardi FC; Barbaro M; Lau IF; Lemos-Marini SHV; Baptista MTM; Guerra-Junior G; Wedell A; Lajic S; de Mello MP
Article: CLINICAL GENETICS. 2008;73(5):453-464
Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis
Barbaro M; Cicognani A; Balsamo A; Lofgren A; Baldazzi L; Wedell A; Oscarson M
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2007;92(8):3305-3313
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene
Barbaro M; Oscarson M; Schoumans J; Staaf J; Ivarsson SA; Wedell A
Article: CLINICAL ENDOCRINOLOGY. 2007;66(6):822-826
Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development
Barbaro M; Oscarson M; Almskog I; Hamberg H; Wedell A
Article: JOURNAL OF MOLECULAR MEDICINE. 2007;85(3):243-251
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia
Robins T; Bellanne-Chantelot C; Barbaro M; Cabrol S; Wedell A; Lajic S
Article: REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY. 2007;5:8
Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias
Beleza-Meireles A; Barbaro M; Wedell A; Tohonen V; Nordenskjold A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2007;15(2):143-149
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
Schoumans J; Wincent J; Barbaro M; Djureinovic T; Maguire P; Forsberg L; Staaf J; Thuresson AC; Borg A; Nordgren A; Malm G; Anderlid BM
Article: JOURNAL OF MOLECULAR MEDICINE. 2006;84(6):521-528
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene
Barbaro M; Baldazzi L; Balsamo A; Lajic S; Robins T; Barp L; Pirazzoli P; Cacciari E; Cicognani A; Wedell A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2005;90(4):2148-2153
Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia
Robins T; Barbaro M; Lajic S; Wedell A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2004;89(5):2402-2407
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia
Barbaro M; Lajic S; Baldazzi L; Balsamo A; Pirazzoli P; Cicognani A; Wedell A; Cacciari E
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All other publications

Preprint: BIORXIV. 2023;BIORXIV
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W; Sowlati-Hashjin S; Weile J; Hamilton R; Chawla A; Gebbia M; Kishore N; Frésard L; Mustajoki S; Pischik E; Di Pierro E; Barbaro M; Floderus Y; Schmitt C; Gouya L; Colavin A; Nussbaum R; Friesema ECH; Kauppinen R; To-Figueras J; Aarsand AK; Desnick RJ; Garton M; Roth FP
Other: JIMD REPORTS. 2019;50(1):1-8
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
Jensen KV; Frid M; Stödberg T; Barbaro M; Wedell A; Christensen M; Bak M; Ek J; Madsen CG; Darin N; Grønborg S
Editorial comment: CLINICAL GENETICS. 2012;82(2):197-200
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia
Aminoff A; Gunnar E; Barbaro M; Mannila MN; Duponchel C; Tosi M; Robinson KL; Hernell O; Ehrenborg E
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2012;158A(6):1498-1502
Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion
Alejandra Neira V; Cordova-Fletes C; Grondin Y; Ramirez-Velazco A; Figuera LE; Ortiz-Lopez R; Barbaro M
Letter: CLINICAL ENDOCRINOLOGY. 2012;76(5):766-768
Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH
Barbaro M; Soardi FC; de Mello MP; Wedell A; Lajic S
Thesis / dissertation: 2008
Mechanisms in disorders of sex development
Barbaro, Michela
Published conference paper: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2003;88(12):5680-5688
CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency.
Balsamo A; Cicognani A; Baldazzi L; Barbaro M; Baronio F; Gennari M; Bal M; Cassio A; Kontaxaki K; Cacciari E
Letter: CLINICAL GENETICS. 2003;64(3):258-260
Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis.
Baldazzi L; Nicoletti A; Gennari M; Barbaro M; Pirazzoli P; Cicognani A; Cacciari E

Employments

Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-2025

Degrees and Education

Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2008

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