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R. Colombo · SciRah

Researcher profile · Semantic Scholar

R. Colombo

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R. Colombo — researcher profile on SciRah

h-index: 28
Works: 103
Citations: 2,605

Most-cited papers

Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
S. Cichon, Ludovic Martin, H. Hennies, F. Müller +8 more
2006American Journal of Human Genetics339 citations Open access
Semantic Scholar
Monogenic variants in dystonia: an exome-wide sequencing study
M. Zech, R. Jech, S. Boesch, M. Škorvánek +107 more
2020Lancet Neurology190 citations Open access
Semantic Scholar
Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
A. Amiri-Yekta, C. Coutton, Z. Kherraf, Thomas Karaouzene +13 more
2016Human Reproduction107 citations Open access
Semantic Scholar
Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up
M. Zech, S. Boesch, Angela Jochim, Sandrina Weber +13 more
2017Movement Disorders104 citations
Semantic Scholar
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
J. Klammt, D. Neumann, E. Gevers, Shayne F. Andrew +12 more
2018Nature Communications98 citations Open access
Semantic Scholar
Clinical features, response to treatment and functional outcome of bipolar disorder patients with and without co-occurring substance use disorder: 1-year follow-up.
M. Mazza, L. Mandelli, M. Di Nicola, D. Harnic +7 more
2009Journal of Affective Disorders96 citations
Semantic Scholar
Multidisciplinary approach to prostatitis.
V. Magri, M. Boltri, T. Cai, R. Colombo +22 more
2019Archivio Italiano di Urologia e Andrologia93 citations Open access
Semantic Scholar
The REALAB project: a new method for the formulation of reference intervals based on current data.
E. Grossi, R. Colombo, S. Cavuto, C. Franzini
2005Clinical Chemistry93 citations Open access
Semantic Scholar
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Angad Jolly, Y. Bayram, S. Turan, Z. Aycan +27 more
2019Journal of Clinical Endocrinology and Metabolism67 citations Open access
Semantic Scholar
Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
R. R. Maas, K. Iwanicka-Pronicka, Sema Kalkan Uçar, B. Alhaddad +54 more
2017Annals of Neurology64 citations Open access
Semantic Scholar
Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero.
A. Frattini, H. Blair, M. Sacco, Francesco Cerisoli +13 more
2005Proceedings of the National Academy of Sciences of the United States of America61 citations Open access
Semantic Scholar
Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations
L. Youssefian, H. Vahidnezhad, A. Saeidian, Sara Pajouhanfar +8 more
2019Journal of Hepatology54 citations Open access
Semantic Scholar
Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene
C. Redaelli, R. Coleman, L. Moro, C. Dacou-voutetakis +6 more
2010Orphanet Journal of Rare Diseases54 citations Open access
Semantic Scholar
Two Novel TEX15 Mutations in a Family with Nonobstructive Azoospermia
R. Colombo, A. Pontoglio, M. Bini
2017Gynecologic and Obstetric Investigation51 citations
Semantic Scholar
Harm avoidance moderates the influence of serotonin transporter gene variants on treatment outcome in bipolar patients.
L. Mandelli, M. Mazza, G. Martinotti, M. Di Nicola +7 more
2009Journal of Affective Disorders49 citations
Semantic Scholar
Prevalence of subclinical hypothyroidism in a population living in the Milan metropolitan area
G. Rivolta, R. Cerutti, R. Colombo, G. Miano +2 more
1999Journal of Endocrinological Investigation49 citations
Semantic Scholar
Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis
A. Frisch, R. Colombo, E. Michaelovsky, M. Karpati +2 more
2004Human Genetics47 citations
Semantic Scholar
Elevated urine levels of bufotenine in patients with autistic spectrum disorders and schizophrenia.
E. Emanuele, R. Colombo, V. Martinelli, N. Brondino +4 more
2010Neuro - endocrinology letters46 citations
Semantic Scholar
MYLK Mutations: Aortic Disease Presentation, Pregnancy Risk, and Characterization of Pathogenic Missense Variants
S. Wallace, E. Regalado, L. Gong, Alexandra L. Janda +16 more
2018Genetics in Medicine45 citations Open access
Semantic Scholar
Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells
M. M. Picher, A. Gehrt, Sandra Meese, Aleksandra Ivanovic +8 more
2017Proceedings of the National Academy of Sciences of the United States of America44 citations Open access
Semantic Scholar
Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.
R. Colombo
2000American Journal of Human Genetics42 citations Open access
Semantic Scholar
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
S. Frints, F. Hennig, R. Colombo, S. Jacquemont +34 more
2019Human Mutation40 citations Open access
Semantic Scholar
Damaging‐agent sensitivity of Artemis‐deficient cell lines
A. Musio, V. Marrella, C. Sobacchi, F. Rucci +8 more
2005European Journal of Immunology38 citations
Semantic Scholar
Improved cytochemical method for detecting Jordans’ bodies in neutral lipid storage diseases
Daniela Tavian, R. Colombo
2006Journal of Clinical Pathology35 citations Open access
Semantic Scholar
De novo and biallelic DEAF1 variants cause a phenotypic spectrum
M. J. Nabais Sá, Philip J. Jensik, S. McGee, Michael J. Parker +34 more
2019Genetics in Medicine34 citations Open access
Semantic Scholar
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance
Z. Powis, K. D. Farwell Hagman, C. Mroske, K. Mcwalter +25 more
2018Clinical Genetics33 citations Open access
Semantic Scholar
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Laura Castilla-Vallmanya, K. Selmer, Clémantine Dimartino, R. Rabionet +96 more
2020Genetics in Medicine31 citations Open access
Semantic Scholar
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
Hasan Tawamie, Igor Martianov, Natalie Wohlfahrt, R. Buchert +11 more
2017American Journal of Human Genetics31 citations Open access
Semantic Scholar
Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.
A. Ronchetti, D. Prati, M. G. Pezzotta, Daniela Tavian +3 more
2008Journal of Hepatology28 citations Open access
Semantic Scholar
Characterization of Gut Microbiota Composition in Type 2 Diabetes Patients: A Population-Based Study
Isabella Polidori, Laura Marullo, C. Ialongo, F. Tomassetti +8 more
2022International Journal of Environmental Research and Public Health26 citations Open access
Semantic Scholar
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam
Khanh Ngoc Nguyen, Elsayed Abdelkreem, R. Colombo, Y. Hasegawa +11 more
2017Journal of Inherited Metabolic Disease26 citations
Semantic Scholar
A STAG3 missense mutation in two sisters with primary ovarian insufficiency.
R. Colombo, A. Pontoglio, M. Bini
2017European Journal of Obstetrics, Gynecology, and Reproductive Biology26 citations
Semantic Scholar
Nine newly identified individuals refine the phenotype associated with MYT1L mutations
Isabelle C Windheuser, J. Becker, K. Cremer, H. Hundertmark +18 more
2020American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature
Muhammad Ansar, S. A. Paracha, A. Serretti, M. Sarwar +13 more
2018Human Molecular Genetics24 citations Open access
Semantic Scholar
Recent Advances in Autism Spectrum Disorders - Volume I
M. Fitzgerald, K. Dodig-Ćurković, M. Ćurković, J. Radić +29 more
201324 citations Open access
Semantic Scholar
A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews
Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, R. Colombo +11 more
2019Molecular Vision21 citations
Semantic Scholar
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
S. Wortmann, Margaret A. Chen, R. Colombo, Alessandro Pontoglio +21 more
2017Journal of Inherited Metabolic Disease20 citations Open access
Semantic Scholar
A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.
Daniela Tavian, D. Degiorgio, N. Roncaglia, P. Vergani +3 more
2009Digestive and Liver Disease18 citations
Semantic Scholar
Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population
R. Colombo, A. Bignamini, A. Carobene, Junko Sasaki +3 more
2000Human Genetics18 citations
Semantic Scholar
Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews.
R. Colombo
2000American Journal of Human Genetics18 citations Open access
Semantic Scholar
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases
D. Lehalle, R. Colombo, M. O'Grady, B. Héron +19 more
2019American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Further evidence supporting the influence of brain-derived neurotrophic factor on the outcome of bipolar depression: independent effect of brain-derived neurotrophic factor and harm avoidance
L. Mandelli, M. Mazza, G. Martinotti, Daniela Tavian +8 more
2010Journal of Psychopharmacology17 citations
Semantic Scholar
Factors associated with the course of symptoms in bipolar disorder during a 1-year follow-up: Depression vs. sub-threshold mixed state
M. Mazza, L. Mandelli, L. Zaninotto, M. Di Nicola +9 more
2011Nordic Journal of Psychiatry16 citations
Semantic Scholar
Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia
R. Colombo, A. Carobene
2000Human Genetics16 citations
Semantic Scholar
Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.
H. Karstensen, N. D. Rendtorff, Lone Sandbjerg Hindbæk, R. Colombo +7 more
2020European Journal of Medical Genetics14 citations
Semantic Scholar
Colonic stricture and retinitis due to cytomegalovirus infection in an immunocompetent infant
C. Tzialla, L. Decembrino, Amelia Di Comite, L. Bollani +2 more
2010Pediatrics International13 citations
Semantic Scholar
Mapping libyan health facilities - A collaboration between crisis mappers and the world health organization
J. Chan, R. Colombo, A. Musani
2012International Conference on Information Systems for Crisis Response and Management12 citations
Semantic Scholar
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor
M. Karpati, E. Gazit, B. Goldman, A. Frisch +2 more
2004Neurogenetics12 citations
Semantic Scholar
Exome sequencing identifies a disease variant of the mitochondrial ATP‐Mg/Pi carrier SLC25A25 in two families with kidney stones
M. Jabalameli, Fiona M Fitzpatrick, R. Colombo, S. Howles +5 more
2021Molecular Genetics & Genomic Medicine11 citations Open access
Semantic Scholar
Genetic variants associated with psychotic symptoms across psychiatric disorders.
M. Calabrò, S. Porcelli, C. Crisafulli, D. Albani +20 more
2020Neuroscience Letters11 citations
Semantic Scholar

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