Silvia Russo, MD

Assistant Professor of Clinical Neurology

Dr. Silvia Russo is a board-certified neurologist specializing in behavioral neurology. She graduated summa cum laude from San Raffaele University School of Medicine in Milan, Italy, and completed a visiting scholarship at UCSF’s Memory and Aging Center, where she gained valuable experience in neurodegenerative disorders and developed a deeper commitment to caring for aging patients with cognitive decline.

Dr. Russo completed her neurology residency and behavioral neurology fellowship at Stanford School of Medicine, where she participated in the clinical core of the Alzheimer’s Disease Research Center and served as an investigator in clinical trials. Before returning to UCSF’s Memory and Aging Center as faculty, she worked with Providence for three years in Spokane, Washington, as the sole behavioral neurologist in the Inland Northwest region. During this period, she participated in the University of Washington Project ECHO® Dementia, the Dementia Action Collaborative, and collaborated with the local chapter of the Alzheimer’s Association to expand knowledge and access to quality dementia care across Washington State.

Dr. Russo is passionate about improving access to cognitive care for historically underserved communities and providing excellent care and medical education in the field of memory and cognitive disorders. Her specific interests include the accurate diagnosis and management of dementia with Lewy bodies and dementias with early onset.

Publications:

Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.

Orphanet journal of rare diseases

Boeri S, Piai M, Russo S, Alari V, Cogliati F, Simonetta D, Benke TA, Nobili L, Prato G

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).

American journal of medical genetics. Part A

Leone P, Nisco A, de Gennaro L, Tolomeo M, Lorefice E, Petrosillo G, Russo S, De Giovanni D, Catacchio CR, Lepri FR, Ventura M, Simonetti S, Tummolo A, Barile M

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.

The Journal of clinical endocrinology and metabolism

Vimercati A, Tannorella P, Guzzetti S, Calzari L, Gentilini D, Manfredini E, Gori G, Gaudino R, Antona V, Piccione M, Daolio C, Auricchio R, Sirchia F, Minelli A, Rossi E, Bellini M, Biasucci G, Raucci AR, Pozzobon G, Patti G, Napoli F, Larizza L, Maghnie M, Russo S

Dysfunctional mitochondrial bioenergetics sustains drug resistance in cancer cells.

American journal of physiology. Cell physiology

Gnocchi D, Nikolic D, Russo S, Matrella ML, Paparella RR, Kumar S, Karki SS, Sabbà C, Cocco T, Lobasso S, Mazzocca A

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.

Human genomics

Bonfiglio F, Legati A, Lasorsa VA, Palombo F, De Riso G, Isidori F, Russo S, Furini S, Merla G, Coppedè F, Tartaglia M, Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genet, Bruselles A, Pippucci T, Ciolfi A, Pinelli M, Capasso M

Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.

American journal of medical genetics. Part A

Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE

High OXPHOS efficiency in RA-FUdr-differentiated SH-SY5Y cells: involvement of cAMP signalling and respiratory supercomplexes.

Scientific reports

Matrella ML, Valletti A, Gigante I, De Rasmo D, Signorile A, Russo S, Lobasso S, Lobraico D, Dibattista M, Pacelli C, Cocco T

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Cogliati F, Straniero L, Rimoldi V, Masciadri M, Perego S, Rinaldi B, Milani D, Gentilini D, Larizza L, Asselta R, Russo S, Bedeschi MF

Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome.

Frontiers in pediatrics

Tovaglieri N, Russo S, Micaglio E, Corcelli A, Lobasso S

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.

Frontiers in genetics

Vimercati A, Tannorella P, Orlandini E, Calzari L, Moro M, Guzzetti S, Selicorni A, Crippa M, Larizza L, Bonati MT, Russo S

Prenatal testing for imprinting disorders: A laboratory perspective.

Prenatal diagnosis

Beygo J, Russo S, Tannorella P, Santen GWE, Dufke A, Schlaich E, Eggermann T

Corrigendum: Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.

Frontiers in endocrinology

Patti G, Malerba F, Calevo MG, Schiavone M, Scaglione M, Casalini E, Russo S, Fava D, Bassi M, Napoli F, Allegri AEM, D'Annunzio G, Gastaldi R, Maghnie M, Di Iorgi N

Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.

Frontiers in endocrinology

Patti G, Malerba F, Calevo MG, Schiavone M, Scaglione M, Casalini E, Russo S, Fava D, Bassi M, Napoli F, Allegri AEM, D'Annunzio G, Gastaldi R, Maghnie M, Di Iorgi N

Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental Delay.

Journal of pediatric genetics

Belghiti HD, Abbassi M, Sayel H, Ahakoud M, El Makhzen BE, Lee N, Russo S, Chaouki S, Bouguenouch L

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.

European journal of human genetics : EJHG

Sironi A, Bestetti I, Masciadri M, Tumiatti F, Crippa M, Pantaleoni C, Russo S, D'Arrigo S, Milani D, Larizza L, Finelli P

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.

Clinical epigenetics

Tannorella P, Calzari L, Daolio C, Mainini E, Vimercati A, Gentilini D, Soli F, Pedrolli A, Bonati MT, Larizza L, Russo S

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Clinical epigenetics

Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z

SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.

Brain sciences

Epifanio R, Giorda R, Merlano MC, Zanotta N, Romaniello R, Marelli S, Russo S, Cogliati F, Bassi MT, Zucca C

Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series.

Children (Basel, Switzerland)

De Pellegrin M, Brogioni L, Laskow G, Barera G, Pajno R, Osimani S, Russo S, Marcucci L

Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders.

Frontiers in neurology

Cogliati F, Forzano F, Russo S

Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.

International journal of molecular sciences

Alari V, Scalmani P, Ajmone PF, Perego S, Avignone S, Catusi I, Lonati PA, Borghi MO, Finelli P, Terragni B, Mantegazza M, Russo S, Larizza L

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.

Genes

Tannorella P, Minervino D, Guzzetti S, Vimercati A, Calzari L, Patti G, Maghnie M, Allegri AEM, Milani D, Scuvera G, Mariani M, Modena P, Selicorni A, Larizza L, Russo S

Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation.

American journal of medical genetics. Part A

Cacciatori E, Lelii M, Russo S, Alari V, Masciadri M, Guez S, Patria MF, Marchisio P, Milani D

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.

Clinical epigenetics

Cubellis MV, Pignata L, Verma A, Sparago A, Del Prete R, Monticelli M, Calzari L, Antona V, Melis D, Tenconi R, Russo S, Cerrato F, Riccio A

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation.

Molecular neurobiology

Calzari L, Barcella M, Alari V, Braga D, Muñoz-Viana R, Barlassina C, Finelli P, Gervasini C, Barco A, Russo S, Larizza L

Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome.

The Journal of clinical endocrinology and metabolism

Patti G, De Mori L, Tortora D, Severino M, Calevo M, Russo S, Napoli F, Confalonieri L, Schiavone M, Thiabat HF, Casalini E, Morana G, Rossi A, Ramenghi LA, Maghnie M, Di Iorgi N

DNA Methylation in the Diagnosis of Monogenic Diseases.

Genes

Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A

Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis.

International journal of molecular sciences

De Rasmo D, Signorile A, De Leo E, Polishchuk EV, Ferretta A, Raso R, Russo S, Polishchuk R, Emma F, Bellomo F

A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation.

Genome medicine

Demond H, Anvar Z, Jahromi BN, Sparago A, Verma A, Davari M, Calzari L, Russo S, Jahromi MA, Monk D, Andrews S, Riccio A, Kelsey G

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.

Clinical epigenetics

Sparago A, Verma A, Patricelli MG, Pignata L, Russo S, Calzari L, De Francesco N, Del Prete R, Palumbo O, Carella M, Mackay DJG, Rezwan FI, Angelini C, Cerrato F, Cubellis MV, Riccio A

Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.

Frontiers in genetics

Crippa M, Bonati MT, Calzari L, Picinelli C, Gervasini C, Sironi A, Bestetti I, Guzzetti S, Bellone S, Selicorni A, Mussa A, Riccio A, Ferrero GB, Russo S, Larizza L, Finelli P

Human Ovarian Cancer Tissue Exhibits Increase of Mitochondrial Biogenesis and Cristae Remodeling.

Cancers

Signorile A, De Rasmo D, Cormio A, Musicco C, Rossi R, Fortarezza F, Palese LL, Loizzi V, Resta L, Scillitani G, Cicinelli E, Simonetti F, Ferretta A, Russo S, Tufaro A, Cormio G

Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479) and c.3474G>A, p.(Trp1158) and missense c.4627G>T, p.(Asp1543Tyr) mutations.

Stem cell research

Alari V, Russo S, Rovina D, Garzo M, Crippa M, Calzari L, Scalera C, Concolino D, Castiglioni E, Giardino D, Prosperi E, Finelli P, Gervasini C, Gowran A, Larizza L

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.

International journal of molecular sciences

Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S

Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome.

Pathobiology : journal of immunopathology, molecular and cellular biology

Bergallo M, Galliano I, Montanari P, Calvi C, Daprà V, Carli D, Russo S, Mussa A, Ferrero GB

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Genetics research

Mackay DJG, Bliek J, Lombardi MP, Russo S, Calzari L, Guzzetti S, Izzi C, Selicorni A, Melis D, Temple K, Maher E, Brioude F, Netchine I, Eggermann T

A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype.

European journal of medical genetics

Dorval S, Masciadri M, Mathot M, Russo S, Revencu N, Larizza L

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.

Frontiers in genetics

Cirello V, Giorgini V, Castronovo C, Marelli S, Mainini E, Sironi A, Recalcati MP, Pessina M, Giardino D, Larizza L, Persani L, Finelli P, Russo S, Fugazzola L

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.

Frontiers in neurology

Masciadri M, Ficcadenti A, Milani D, Cogliati F, Divizia MT, Larizza L, Russo S

Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.

Acta neuropathologica

Geier EG, Bourdenx M, Storm NJ, Cochran JN, Sirkis DW, Hwang JH, Bonham LW, Ramos EM, Diaz A, Van Berlo V, Dokuru D, Nana AL, Karydas A, Balestra ME, Huang Y, Russo SP, Spina S, Grinberg LT, Seeley WW, Myers RM, Miller BL, Coppola G, Lee SE, Cuervo AM, Yokoyama JS

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.

American journal of medical genetics. Part A

Decimi V, Parma B, Panceri R, Fossati C, Mariani M, Russo S, Gervasini CC, Cheli M, Cereda A, Selicorni A

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).

Stem cell research

Alari V, Russo S, Rovina D, Gowran A, Garzo M, Crippa M, Mazzanti L, Scalera C, Prosperi E, Giardino D, Gervasini C, Finelli P, Pompilio G, Larizza L

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Stem cell research

Alari V, Russo S, Terragni B, Ajmone PF, Sironi A, Catusi I, Calzari L, Concolino D, Marotta R, Milani D, Giardino D, Mantegazza M, Gervasini C, Finelli P, Larizza L

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

Annals of clinical and translational neurology

Meeter LHH, Gendron TF, Sias AC, Jiskoot LC, Russo SP, Donker Kaat L, Papma JM, Panman JL, van der Ende EL, Dopper EG, Franzen S, Graff C, Boxer AL, Rosen HJ, Sanchez-Valle R, Galimberti D, Pijnenburg YAL, Benussi L, Ghidoni R, Borroni B, Laforce R, Del Campo M, Teunissen CE, van Minkelen R, Rojas JC, Coppola G, Geschwind DH, Rademakers R, Karydas AM, Öijerstedt L, Scarpini E, Binetti G, Padovani A, Cash DM, Dick KM, Bocchetta M, Miller BL, Rohrer JD, Petrucelli L, van Swieten JC, Lee SE

Taurine Administration Recovers Motor and Learning Deficits in an Angelman Syndrome Mouse Model.

International journal of molecular sciences

Guzzetti S, Calzari L, Buccarello L, Cesari V, Toschi I, Cattaldo S, Mauro A, Pregnolato F, Mazzola SM, Russo S

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.

Epigenetics

Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z, Nomenclature group of the European Network for Human Congenital Imprinting Disorders

Ab initio calculation of energy levels for phosphorus donors in silicon.

Scientific reports

Smith JS, Budi A, Per MC, Vogt N, Drumm DW, Hollenberg LCL, Cole JH, Russo SP

Clinical Reasoning: A 35-year-old woman with hyperstartling, stiffness, and accidental falls: A startling diagnosis.

Neurology

Russo SP, Fossati B, Toffetti M, Lanzone J, Cardani R, Meola G

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.

Journal of human genetics

Moncini S, Castronovo P, Murgia A, Russo S, Bedeschi MF, Lunghi M, Selicorni A, Bonati MT, Riva P, Venturin M

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors.

Scientific reports

Roversi G, Picinelli C, Bestetti I, Crippa M, Perotti D, Ciceri S, Saccheri F, Collini P, Poliani PL, Catania S, Peissel B, Pagni F, Russo S, Peterlongo P, Manoukian S, Finelli P

Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

American journal of medical genetics. Part A

Cavalleri V, Bettini LR, Barboni C, Cereda A, Mariani M, Spinelli M, Gervasini C, Russo S, Biondi A, Jankovic M, Selicorni A

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.

European journal of human genetics : EJHG

Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Molecular cytogenetics

Crippa M, Rusconi D, Castronovo C, Bestetti I, Russo S, Cereda A, Selicorni A, Larizza L, Finelli P

Antiepileptic drugs in Rett Syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Pintaudi M, Calevo MG, Vignoli A, Baglietto MG, Hayek Y, Traverso M, Giacomini T, Giordano L, Renieri A, Russo S, Canevini M, Veneselli E

The drop that spilled the cup: acute myocardial infarction in a young woman with underlying thrombophilic polymorphisms and oral contraceptive use.

Case reports in cardiology

Russo N, Franzì E, Capilli G, Patané AA, Russo SP, Evola R

Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale.

Research in developmental disabilities

Fabio RA, Colombo B, Russo S, Cogliati F, Masciadri M, Foglia S, Antonietti A, Tavian D

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.

Epigenetics

Parenti I, Rovina D, Masciadri M, Cereda A, Azzollini J, Picinelli C, Limongelli G, Finelli P, Selicorni A, Russo S, Gervasini C, Larizza L

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Silvia Russo, MD

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