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S. Morlino · SciRah

Researcher profile · Semantic Scholar

S. Morlino

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S. Morlino — researcher profile on SciRah

h-index: 19
Works: 67
Citations: 1,288

Most-cited papers

Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach
M. Castori, S. Morlino, C. Celletti, M. Celli +4 more
2012American Journal of Medical Genetics. Part A165 citations
Semantic Scholar
Re‐writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type
M. Castori, S. Morlino, C. Celletti, G. Ghibellini +4 more
2013American Journal of Medical Genetics. Part A159 citations
Semantic Scholar
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients
M. Castori, S. Morlino, C. Dordoni, C. Celletti +6 more
2012American Journal of Medical Genetics. Part A88 citations
Semantic Scholar
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers‐Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees
M. Castori, C. Dordoni, M. Valiante, I. Sperduti +9 more
2014American Journal of Medical Genetics. Part A83 citations
Semantic Scholar
Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers–danlos syndrome, hypermobility type
M. Castori, S. Morlino, Giulia Pascolini, C. Blundo +1 more
2015American Journal of Medical Genetics. Part C, Seminars in Medical Genetics81 citations
Semantic Scholar
Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain
M. Castori, S. Morlino, G. Ghibellini, C. Celletti +2 more
2015American Journal of Medical Genetics. Part C, Seminars in Medical Genetics57 citations
Semantic Scholar
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.
M. Copetti, S. Morlino, M. Colombi, P. Grammatico +2 more
2019Rheumatology53 citations Open access
Semantic Scholar
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
L. Travaglini, M. Nardella, E. Bellacchio, A. D'Amico +13 more
2017European journal of paediatric neurology49 citations
Semantic Scholar
COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
S. Morlino, L. Micale, M. Ritelli, M. Rohrbach +18 more
2019Clinical Genetics44 citations
Semantic Scholar
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers‐Danlos syndrome, hypermobility type
M. Castori, C. Dordoni, S. Morlino, I. Sperduti +10 more
2015American Journal of Medical Genetics. Part C, Seminars in Medical Genetics37 citations
Semantic Scholar
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients
M. Colombi, C. Dordoni, M. Venturini, C. Ciaccio +7 more
2017Clinical Genetics31 citations
Semantic Scholar
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type
S. Morlino, C. Dordoni, I. Sperduti, M. Venturini +4 more
2017American Journal of Medical Genetics. Part A30 citations Open access
Semantic Scholar
Cardiac valvular Ehlers‐Danlos syndrome is a well‐defined condition due to recessive null variants in COL1A2
V. Guarnieri, S. Morlino, G. Di Stolfo, S. Mastroianno +2 more
2019American Journal of Medical Genetics. Part A27 citations
Semantic Scholar
Posterior column ataxia with retinitis pigmentosa coexisting with sensory‐autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation
M. Castori, S. Morlino, M. Ungelenk, D. Pareyson +5 more
2017American Journal of Medical Genetics Part B: Neuropsychiatric Genetics27 citations
Semantic Scholar
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non‐syndromic microtia and distinctive ear morphology
F. Piceci, S. Morlino, M. Castori, E. Buffone +3 more
2017Clinical Genetics25 citations
Semantic Scholar
Placing joint hypermobility in context: traits, disorders and syndromes
S. Morlino, M. Castori
2023British Medical Bulletin24 citations
Semantic Scholar
Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders
C. Fusco, S. Morlino, L. Micale, A. Ferraris +2 more
2019Genes22 citations Open access
Semantic Scholar
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
M. Ritelli, S. Morlino, E. Giacopuzzi, Laura Bernardini +9 more
2018Clinical Genetics21 citations
Semantic Scholar
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder
S. Morlino, M. Castori, C. Dordoni, V. Cinquina +5 more
2018European Journal of Human Genetics20 citations Open access
Semantic Scholar
Late diagnosis of lateral meningocele syndrome in a 55‐year‐old woman with symptoms of joint instability and chronic musculoskeletal pain
M. Castori, S. Morlino, M. Ritelli, F. Brancati +3 more
2014American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder
Caterina Piedimonte, R. Penge, S. Morlino, I. Sperduti +6 more
2018American Journal of Medical Genetics Part B: Neuropsychiatric Genetics18 citations
Semantic Scholar
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation
M. Castori, I. Bottillo, D. D'Angelantonio, S. Morlino +4 more
2014Molecular Syndromology18 citations Open access
Semantic Scholar
Ehlers–Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA
M. Ritelli, S. Morlino, E. Giacopuzzi, Giulia Carini +5 more
2017American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
LTBP2‐related “Marfan‐like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant
S. Morlino, V. Alesi, Federica Calí, F. Lepri +6 more
2019American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects
A. Gerbino, I. Bottillo, S. Milano, Martina Lipari +9 more
2017Cellular Physiology and Biochemistry16 citations Open access
Semantic Scholar
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
M. Castori, I. Bottillo, S. Morlino, C. Barone +3 more
2016Birth defects research. Clinical and molecular teratology14 citations
Semantic Scholar
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
L. Micale, S. Morlino, Annalisa Schirizzi, E. Agolini +9 more
2020Genes13 citations Open access
Semantic Scholar
Towards a re‐thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers‐Danlos syndrome, hypermobility type
M. Castori, S. Morlino, P. Grammatico
2014American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Federico Raviglione, S. Douzgou, M. Scala, A. Mingarelli +42 more
2021Seizure10 citations Open access
Semantic Scholar
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.
L. Micale, S. Morlino, T. Biagini, A. Carbone +13 more
2020Biochimica et Biophysica Acta - Molecular Basis of Disease10 citations Open access
Semantic Scholar
Clinical presentation and molecular characterization of a novel patient with variant POC1A‐related syndrome
S. Majore, E. Agolini, L. Micale, Giulia Pascolini +8 more
2020Clinical Genetics10 citations
Semantic Scholar
Italian validation of the functional difficulties questionnaire (FDQ‐9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorder
S. Morlino, C. Dordoni, I. Sperduti, Carol Clark +6 more
2018American Journal of Medical Genetics Part B: Neuropsychiatric Genetics10 citations Open access
Semantic Scholar
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
M. P. Leone, S. Morlino, G. Nardella, R. Pracella +32 more
2023Human Genetics9 citations
Semantic Scholar
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.
S. Morlino, M. Castori, F. Servadei, L. Laino +2 more
2015Birth defects research. Clinical and molecular teratology9 citations
Semantic Scholar
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature
A. Torraco, S. Morlino, T. Rizza, M. Di Nottia +7 more
2022Clinical Genetics7 citations Open access
Semantic Scholar
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis
S. Morlino, A. Carbone, M. Ritelli, C. Fusco +11 more
2019Human Mutation6 citations Open access
Semantic Scholar
Clinical and molecular characterization of two patients with palmoplantar keratoderma–congenital alopecia syndrome type 2
Marco Castori, S. Morlino, M. Sana, M. Paradisi +6 more
2016Clincal and Experimental Dermatology6 citations
Semantic Scholar
An Additional Patient With 3q27.3 Microdeletion Syndrome
M. Castori, I. Bottillo, L. Laino, S. Morlino +2 more
2015Journal of Child Neurology5 citations
Semantic Scholar
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A
S. Morlino, G. Nardella, S. Castellana, L. Micale +3 more
2020American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis.
L. Micale, E. Di Muro, R. De Cegli, B. Tumaini +20 more
2025Biochimica et Biophysica Acta - Molecular Basis of Disease3 citations Open access
Semantic Scholar
The “old theme” of variability versus transitory phenotypes in thanatophoric dysplasia type 1: Two 19‐week‐old fetuses with (“San Diego” variant) and without ragged metaphyses due to the same FGFR3 mutation
M. Castori, S. Morlino, Francesca Clementina Radio, C. De Bernardo +1 more
2013American Journal of Medical Genetics. Part A3 citations
Semantic Scholar
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
S. Morlino, L. Vaccaro, M. P. Leone, G. Nardella +7 more
2024Journal of Human Genetics2 citations
Semantic Scholar
Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene
L. Micale, F. Russo, Martina Mascaro, S. Morlino +5 more
2022Pediatric Research2 citations
Semantic Scholar
Craniosynostosis is a feature of CHD7‐related CHARGE syndrome
Chiara De Luca, S. Picone, M. Cassina, Simone Marziali +7 more
2021American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
Recognizing and treating Ehlers-Danlos syndrome(s): the need for a multidisciplinary approach
S. Morlino, Caterina Piedimonte, M. Castori
20162 citations
Semantic Scholar
OCT/SLO versus OCT3 in the Evaluation of Epiretinal Membranes
L. Pierro, L. Idone, S. Morlino, S. Di Simplicio
20062 citations
Semantic Scholar
Neurological manifestations and genotype–phenotype correlations in NDUFAF6-associated mitochondrial disease
A. Torraco, C. Alston, Giulia Barcia, D. Verrigni +20 more
2026Brain Communications1 citations Open access
Semantic Scholar
Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders
M. Castori, S. Mastroianno, Andrea Fontana, S. Morlino +19 more
2025Journal of Human Genetics1 citations
Semantic Scholar
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
C. Fusco, G. Nardella, S. Morlino, L. Micale +7 more
2023Journal of Human Genetics1 citations
Semantic Scholar
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
L. Micale, S. Morlino, A. Carbone, A. Carissimo +19 more
2021Genetics in Medicine1 citations Open access
Semantic Scholar

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M. Castori×40
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M. Castori — researcher profile on SciRah
P. Grammatico×30
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P. Grammatico — researcher profile on SciRah
M. Colombi×14
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M. Colombi — researcher profile on SciRah
L. Micale×13
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M. Ritelli — researcher profile on SciRah

G. Nardella×11

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C. Fusco — researcher profile on SciRah

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C. Celletti — researcher profile on SciRah

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F. Camerota — researcher profile on SciRah

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C. Dordoni — researcher profile on SciRah

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I. Sperduti — researcher profile on SciRah