Accueil
Simone Bargiacchi
Simone Bargiacchi
Affiliations
Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
Publications (17)
Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?
International journal of molecular sciences
Avec:
Camilla Rocca
,
Lucia Tiberi
,
Sara Bargiacchi
,
Viviana Palazzo
,
Samuela Landini
,
Elisa Marziali
,
Roberto Caputo
,
Francesca Tinelli
,
Viviana Marchi
,
Alessandro Benedetto
,
Angelica Pagliazzi
,
Giacomo Maria Bacci
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Ophthalmic genetics
Avec:
P Fortunato
,
A Pagliazzi
,
S Bargiacchi
,
E Marziali
,
A Sodi
,
R Caputo
,
I Passerini
,
E Pelo
,
G M Bacci
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
Molecular genetics & genomic medicine
Avec:
Evelise Brizola
,
Maria Gnoli
,
Morena Tremosini
,
Paolo Nucci
,
Sara Bargiacchi
,
Andrea La Barbera
,
Sabrina Giglio
,
Luca Sangiorgi
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
European journal of human genetics : EJHG
Avec:
Irene Bottillo
,
Emanuele Savino
,
Silvia Majore
,
Claudia Mulargia
,
Michele Valiante
,
Alessandro Ferraris
,
Valentina Rossi
,
Francesca Svegliati
,
Maria Pia Ciccone
,
Francesca Brusco
,
Barbara Grammatico
,
Gianluca Di Giacomo
,
Simone Bargiacchi
,
Daniela D'Angelantonio
,
Paola Grammatico
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Human mutation
Avec:
Michael A Levy
,
Raissa Relator
,
Haley McConkey
,
Erinija Pranckeviciene
,
Jennifer Kerkhof
,
Mouna Barat-Houari
,
Sara Bargiacchi
,
Elisa Biamino
,
María Palomares Bralo
,
Gerarda Cappuccio
,
Andrea Ciolfi
,
Angus Clarke
,
Barbara R DuPont
,
Mariet W Elting
,
Laurence Faivre
,
Timothy Fee
,
Marco Ferilli
,
Robin S Fletcher
,
Florian Cherick
,
Aidin Foroutan
,
Michael J Friez
,
Cristina Gervasini
,
Sadegheh Haghshenas
,
Benjamin A Hilton
,
Zandra Jenkins
,
Simranpreet Kaur
,
Suzanne Lewis
,
Raymond J Louie
,
Silvia Maitz
,
Donatella Milani
,
Angela T Morgan
,
Renske Oegema
,
Elsebet Østergaard
,
Nathalie R Pallares
,
Maria Piccione
,
Astrid S Plomp
,
Cathryn Poulton
,
Jack Reilly
,
Rocio Rius
,
Stephen Robertson
,
Kathleen Rooney
,
Justine Rousseau
,
Gijs W E Santen
,
Fernando Santos-Simarro
,
Josephine Schijns
,
Gabriella M Squeo
,
Miya St John
,
Christel Thauvin-Robinet
,
Giovanna Traficante
,
Pleuntje J van der Sluijs
,
Samantha A Vergano
,
Niels Vos
,
Kellie K Walden
,
Dimitar Azmanov
,
Tugce B Balci
,
Siddharth Banka
,
Jozef Gecz
,
Peter Henneman
,
Jennifer A Lee
,
Marcel M A M Mannens
,
Tony Roscioli
,
Victoria Siu
,
David J Amor
,
Gareth Baynam
,
Eric G Bend
,
Kym Boycott
,
Nicola Brunetti-Pierri
,
Philippe M Campeau
,
Dominique Campion
,
John Christodoulou
,
David Dyment
,
Natacha Esber
,
Jill A Fahrner
,
Mark D Fleming
,
David Genevieve
,
Delphine Heron
,
Thomas Husson
,
Kristin D Kernohan
,
Alisdair McNeill
,
Leonie A Menke
,
Giuseppe Merla
,
Paolo Prontera
,
Cheryl Rockman-Greenberg
,
Charles Schwartz
,
Steven A Skinner
,
Roger E Stevenson
,
Marie Vincent
,
Antonio Vitobello
,
Marco Tartaglia
,
Marielle Alders
,
Matthew L Tedder
,
Bekim Sadikovic
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.
Scientific reports
Avec:
Giacomo M Bacci
,
Elisa Marziali
,
Sara Bargiacchi
,
Michel Paques
,
Gianni Virgili
,
Pina Fortunato
,
Marine Durand
,
Camilla Rocca
,
Angelica Pagliazzi
,
Viviana Palazzo
,
Lucia Tiberi
,
Debora Vergani
,
Samuela Landini
,
Angela Peron
,
Rosangela Artuso
,
Bianca Pacini
,
Monica Stabile
,
Andrea Sodi
,
Roberto Caputo
Optic nerve involvement in
Ophthalmic genetics
Avec:
Elisa Marziali
,
Filip Van Den Broeck
,
Sara Bargiacchi
,
Pina Fortunato
,
Roberto Caputo
,
Andrea Sodi
,
Julie De Zaeytijd
,
Vittoria Murro
,
Dario Pasquale Mucciolo
,
Dario Giorgio
,
Ilaria Passerini
,
Viviana Palazzo
,
Francesca Peluso
,
Elfride de Baere
,
Christina Zeitz
,
Bart P Leroy
,
Jacopo Secci
,
Giacomo M Bacci
Congenital Defects in a Patient Carrying a Novel Homozygous
Genes
Avec:
Niccolò Di Giosaffatte
,
Alessandro Ferraris
,
Federica Gaudioso
,
Valentina Lodato
,
Emanuele Savino
,
Claudia Celletti
,
Filippo Camerota
,
Simone Bargiacchi
,
Luigi Laino
,
Silvia Majore
,
Irene Bottillo
,
Paola Grammatico
A pathogenic variant in the
Frontiers in neuroscience
Avec:
Irene Bottillo
,
Luigi Laino
,
Alessia Azzarà
,
Carla Lintas
,
Ilaria Cassano
,
Vincenzo Di Lazzaro
,
Francesca Ursini
,
Francesco Motolese
,
Simone Bargiacchi
,
Daniela Formicola
,
Paola Grammatico
,
Fiorella Gurrieri
True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature.
Cancer letters
Avec:
Chiara Nicolazzo
,
Ludovic Barault
,
Salvatore Caponnetto
,
Gianluigi De Renzi
,
Francesca Belardinilli
,
Irene Bottillo
,
Simone Bargiacchi
,
Marco Macagno
,
Paola Grammatico
,
Giuseppe Giannini
,
Enrico Cortesi
,
Federica Di Nicolantonio
,
Paola Gazzaniga
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Human genetics
Avec:
Aldesia Provenzano
,
Andrea La Barbera
,
Mirko Scagnet
,
Angelica Pagliazzi
,
Giovanna Traficante
,
Marilena Pantaleo
,
Lucia Tiberi
,
Debora Vergani
,
Nehir Edibe Kurtas
,
Silvia Guarducci
,
Sara Bargiacchi
,
Giulia Forzano
,
Rosangela Artuso
,
Viviana Palazzo
,
Ada Kura
,
Flavio Giordano
,
Daniele di Feo
,
Marzia Mortilla
,
Claudio De Filippi
,
Gianluca Mattei
,
Livia Garavelli
,
Betti Giusti
,
Lorenzo Genitori
,
Orsetta Zuffardi
,
Sabrina Giglio
Broadening the ocular phenotypic spectrum of ultra-rare
Ophthalmic genetics
Avec:
Elisa Marziali
,
Samuela Landini
,
Erika Fiorentini
,
Camilla Rocca
,
Lucia Tiberi
,
Rosangela Artuso
,
Laila Zaroili
,
Elia Dirupo
,
Pina Fortunato
,
Sara Bargiacchi
,
Roberto Caputo
,
Giacomo Maria Bacci
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.
Endocrine connections
Avec:
Alessandro Barbato
,
Giulia Gori
,
Michele Sacchini
,
Francesca Pochiero
,
Sara Bargiacchi
,
Giovanna Traficante
,
Viviana Palazzo
,
Lucia Tiberi
,
Claudia Bianchini
,
Davide Mei
,
Elena Parrini
,
Tiziana Pisano
,
Elena Procopio
,
Renzo Guerrini
,
Angela Peron
,
Stefano Stagi
Unusual presentation of early-onset X-linked retinoschisis: Report after 1 year of multimodal follow-up.
European journal of ophthalmology
Avec:
Andrea Lembo
,
Giacomo Maria Bacci
,
Massimiliano Serafino
,
Stefano Lucentini
,
Roberto Caputo
,
Sara Bargiacchi
,
Ilaria Passerini
,
Francesco Barca
,
Paolo Nucci
Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
Avec:
Vittoria Murro
,
Dario Pasquale Mucciolo
,
Dario Giorgio
,
Andrea Sodi
,
Ilaria Passerini
,
Giacomo Bacci
,
Sara Bargiacchi
,
Gianni Virgili
,
Stanislao Rizzo
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
HGG advances
Avec:
Michael A Levy
,
Haley McConkey
,
Jennifer Kerkhof
,
Mouna Barat-Houari
,
Sara Bargiacchi
,
Elisa Biamino
,
María Palomares Bralo
,
Gerarda Cappuccio
,
Andrea Ciolfi
,
Angus Clarke
,
Barbara R DuPont
,
Mariet W Elting
,
Laurence Faivre
,
Timothy Fee
,
Robin S Fletcher
,
Florian Cherik
,
Aidin Foroutan
,
Michael J Friez
,
Cristina Gervasini
,
Sadegheh Haghshenas
,
Benjamin A Hilton
,
Zandra Jenkins
,
Simranpreet Kaur
,
Suzanne Lewis
,
Raymond J Louie
,
Silvia Maitz
,
Donatella Milani
,
Angela T Morgan
,
Renske Oegema
,
Elsebet Østergaard
,
Nathalie Ruiz Pallares
,
Maria Piccione
,
Simone Pizzi
,
Astrid S Plomp
,
Cathryn Poulton
,
Jack Reilly
,
Raissa Relator
,
Rocio Rius
,
Stephen Robertson
,
Kathleen Rooney
,
Justine Rousseau
,
Gijs W E Santen
,
Fernando Santos-Simarro
,
Josephine Schijns
,
Gabriella Maria Squeo
,
Miya St John
,
Christel Thauvin-Robinet
,
Giovanna Traficante
,
Pleuntje J van der Sluijs
,
Samantha A Vergano
,
Niels Vos
,
Kellie K Walden
,
Dimitar Azmanov
,
Tugce Balci
,
Siddharth Banka
,
Jozef Gecz
,
Peter Henneman
,
Jennifer A Lee
,
Marcel M A M Mannens
,
Tony Roscioli
,
Victoria Siu
,
David J Amor
,
Gareth Baynam
,
Eric G Bend
,
Kym Boycott
,
Nicola Brunetti-Pierri
,
Philippe M Campeau
,
John Christodoulou
,
David Dyment
,
Natacha Esber
,
Jill A Fahrner
,
Mark D Fleming
,
David Genevieve
,
Kristin D Kerrnohan
,
Alisdair McNeill
,
Leonie A Menke
,
Giuseppe Merla
,
Paolo Prontera
,
Cheryl Rockman-Greenberg
,
Charles Schwartz
,
Steven A Skinner
,
Roger E Stevenson
,
Antonio Vitobello
,
Marco Tartaglia
,
Marielle Alders
,
Matthew L Tedder
,
Bekim Sadikovic
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
Orphanet journal of rare diseases
Avec:
Vittoria Murro
,
Sandro Banfi
,
Francesco Testa
,
Giancarlo Iarossi
,
Benedetto Falsini
,
Andrea Sodi
,
Sabrina Signorini
,
Achille Iolascon
,
Roberta Russo
,
Dario Pasquale Mucciolo
,
Roberto Caputo
,
Giacomo Maria Bacci
,
Sara Bargiacchi
,
Simona Turco
,
Stefania Fortini
,
Francesca Simonelli
Réseau de co-auteurs
Sara Bargiacchi
12 collaborations
Roberto Caputo
6 collaborations
Lucia Tiberi
5 collaborations
Viviana Palazzo
5 collaborations
Elisa Marziali
4 collaborations
Giacomo Maria Bacci
4 collaborations
Irene Bottillo
4 collaborations
Paola Grammatico
4 collaborations
Giovanna Traficante
4 collaborations
Andrea Sodi
4 collaborations
Camilla Rocca
3 collaborations
Samuela Landini
3 collaborations
Angelica Pagliazzi
3 collaborations
Pina Fortunato
3 collaborations
Rosangela Artuso
3 collaborations
Vittoria Murro
3 collaborations
Dario Pasquale Mucciolo
3 collaborations
Ilaria Passerini
3 collaborations
Paolo Nucci
2 collaborations
Andrea La Barbera
2 collaborations
Sabrina Giglio
2 collaborations
Emanuele Savino
2 collaborations
Silvia Majore
2 collaborations
Alessandro Ferraris
2 collaborations
Michael A Levy
2 collaborations
Raissa Relator
2 collaborations
Haley McConkey
2 collaborations
Jennifer Kerkhof
2 collaborations
Mouna Barat-Houari
2 collaborations
Elisa Biamino
2 collaborations
María Palomares Bralo
2 collaborations
Gerarda Cappuccio
2 collaborations
Andrea Ciolfi
2 collaborations
Angus Clarke
2 collaborations
Barbara R DuPont
2 collaborations
Mariet W Elting
2 collaborations
Laurence Faivre
2 collaborations
Timothy Fee
2 collaborations
Robin S Fletcher
2 collaborations
Aidin Foroutan
2 collaborations
Michael J Friez
2 collaborations
Cristina Gervasini
2 collaborations
Sadegheh Haghshenas
2 collaborations
Benjamin A Hilton
2 collaborations
Zandra Jenkins
2 collaborations
Simranpreet Kaur
2 collaborations
Suzanne Lewis
2 collaborations
Raymond J Louie
2 collaborations
Silvia Maitz
2 collaborations
Donatella Milani
2 collaborations
Angela T Morgan
2 collaborations
Renske Oegema
2 collaborations
Elsebet Østergaard
2 collaborations
Maria Piccione
2 collaborations
Astrid S Plomp
2 collaborations
Cathryn Poulton
2 collaborations
Jack Reilly
2 collaborations
Rocio Rius
2 collaborations
Stephen Robertson
2 collaborations
Kathleen Rooney
2 collaborations
Justine Rousseau
2 collaborations
Gijs W E Santen
2 collaborations
Fernando Santos-Simarro
2 collaborations
Josephine Schijns
2 collaborations
Miya St John
2 collaborations
Christel Thauvin-Robinet
2 collaborations
Pleuntje J van der Sluijs
2 collaborations
Samantha A Vergano
2 collaborations
Niels Vos
2 collaborations
Kellie K Walden
2 collaborations
Dimitar Azmanov
2 collaborations
Siddharth Banka
2 collaborations
Jozef Gecz
2 collaborations
Peter Henneman
2 collaborations
Jennifer A Lee
2 collaborations
Marcel M A M Mannens
2 collaborations
Tony Roscioli
2 collaborations
Victoria Siu
2 collaborations
David J Amor
2 collaborations
Gareth Baynam
2 collaborations
Eric G Bend
2 collaborations
Kym Boycott
2 collaborations
Nicola Brunetti-Pierri
2 collaborations
Philippe M Campeau
2 collaborations
John Christodoulou
2 collaborations
David Dyment
2 collaborations
Natacha Esber
2 collaborations
Jill A Fahrner
2 collaborations
Mark D Fleming
2 collaborations
David Genevieve
2 collaborations
Alisdair McNeill
2 collaborations
Leonie A Menke
2 collaborations
Giuseppe Merla
2 collaborations
Paolo Prontera
2 collaborations
Cheryl Rockman-Greenberg
2 collaborations
Charles Schwartz
2 collaborations
Steven A Skinner
2 collaborations
Roger E Stevenson
2 collaborations
Antonio Vitobello
2 collaborations
Marco Tartaglia
2 collaborations
Marielle Alders
2 collaborations
Matthew L Tedder
2 collaborations
Bekim Sadikovic
2 collaborations
Giacomo M Bacci
2 collaborations
Gianni Virgili
2 collaborations
Debora Vergani
2 collaborations
Angela Peron
2 collaborations
Dario Giorgio
2 collaborations
Luigi Laino
2 collaborations
Francesca Tinelli
1 collaboration
Viviana Marchi
1 collaboration
Alessandro Benedetto
1 collaboration
P Fortunato
1 collaboration
A Pagliazzi
1 collaboration
S Bargiacchi
1 collaboration
E Marziali
1 collaboration
A Sodi
1 collaboration
R Caputo
1 collaboration
I Passerini
1 collaboration
E Pelo
1 collaboration
G M Bacci
1 collaboration
Evelise Brizola
1 collaboration
Maria Gnoli
1 collaboration
Morena Tremosini
1 collaboration
Luca Sangiorgi
1 collaboration
Claudia Mulargia
1 collaboration
Michele Valiante
1 collaboration
Valentina Rossi
1 collaboration
Francesca Svegliati
1 collaboration
Maria Pia Ciccone
1 collaboration
Francesca Brusco
1 collaboration
Barbara Grammatico
1 collaboration
Gianluca Di Giacomo
1 collaboration
Daniela D'Angelantonio
1 collaboration
Erinija Pranckeviciene
1 collaboration
Marco Ferilli
1 collaboration
Florian Cherick
1 collaboration
Nathalie R Pallares
1 collaboration
Gabriella M Squeo
1 collaboration
Tugce B Balci
1 collaboration
Dominique Campion
1 collaboration
Delphine Heron
1 collaboration
Thomas Husson
1 collaboration
Kristin D Kernohan
1 collaboration
Marie Vincent
1 collaboration
Michel Paques
1 collaboration
Marine Durand
1 collaboration
Bianca Pacini
1 collaboration
Monica Stabile
1 collaboration
Filip Van Den Broeck
1 collaboration
Julie De Zaeytijd
1 collaboration
Francesca Peluso
1 collaboration
Elfride de Baere
1 collaboration
Christina Zeitz
1 collaboration
Bart P Leroy
1 collaboration
Jacopo Secci
1 collaboration
Niccolò Di Giosaffatte
1 collaboration
Federica Gaudioso
1 collaboration
Valentina Lodato
1 collaboration
Claudia Celletti
1 collaboration
Filippo Camerota
1 collaboration
Alessia Azzarà
1 collaboration
Carla Lintas
1 collaboration
Ilaria Cassano
1 collaboration
Vincenzo Di Lazzaro
1 collaboration
Francesca Ursini
1 collaboration
Francesco Motolese
1 collaboration
Daniela Formicola
1 collaboration
Fiorella Gurrieri
1 collaboration
Chiara Nicolazzo
1 collaboration
Ludovic Barault
1 collaboration
Salvatore Caponnetto
1 collaboration
Gianluigi De Renzi
1 collaboration
Francesca Belardinilli
1 collaboration
Marco Macagno
1 collaboration
Giuseppe Giannini
1 collaboration
Enrico Cortesi
1 collaboration
Federica Di Nicolantonio
1 collaboration
Paola Gazzaniga
1 collaboration
Aldesia Provenzano
1 collaboration
Mirko Scagnet
1 collaboration
Marilena Pantaleo
1 collaboration
Nehir Edibe Kurtas
1 collaboration
Silvia Guarducci
1 collaboration
Giulia Forzano
1 collaboration
Ada Kura
1 collaboration
Flavio Giordano
1 collaboration
Daniele di Feo
1 collaboration
Marzia Mortilla
1 collaboration
Claudio De Filippi
1 collaboration
Gianluca Mattei
1 collaboration
Livia Garavelli
1 collaboration
Betti Giusti
1 collaboration
Lorenzo Genitori
1 collaboration
Orsetta Zuffardi
1 collaboration
Erika Fiorentini
1 collaboration
Laila Zaroili
1 collaboration
Elia Dirupo
1 collaboration
Alessandro Barbato
1 collaboration
Giulia Gori
1 collaboration
Michele Sacchini
1 collaboration
Francesca Pochiero
1 collaboration
Claudia Bianchini
1 collaboration
Davide Mei
1 collaboration
Elena Parrini
1 collaboration
Tiziana Pisano
1 collaboration
Elena Procopio
1 collaboration
Renzo Guerrini
1 collaboration
Stefano Stagi
1 collaboration
Andrea Lembo
1 collaboration
Massimiliano Serafino
1 collaboration
Stefano Lucentini
1 collaboration
Francesco Barca
1 collaboration
Giacomo Bacci
1 collaboration
Stanislao Rizzo
1 collaboration
Florian Cherik
1 collaboration
Nathalie Ruiz Pallares
1 collaboration
Simone Pizzi
1 collaboration
Gabriella Maria Squeo
1 collaboration
Tugce Balci
1 collaboration
Kristin D Kerrnohan
1 collaboration
Sandro Banfi
1 collaboration
Francesco Testa
1 collaboration
Giancarlo Iarossi
1 collaboration
Benedetto Falsini
1 collaboration
Sabrina Signorini
1 collaboration
Achille Iolascon
1 collaboration
Roberta Russo
1 collaboration
Simona Turco
1 collaboration
Stefania Fortini
1 collaboration
Francesca Simonelli
1 collaboration