S Majore

Affiliations

Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.

Publications (16)

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers.

Journal of human genetics

Avec: Giulia Pascolini , Nicole Fleischer , Alessandro Ferraris , Silvia Majore , Paola Grammatico

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.

American journal of medical genetics. Part A

Avec: Giulia Pascolini , Emanuele Agolini , Nicole Fleischer , Elisa Gulotta , Claudia Cesario , Gemma D'Elia , Antonio Novelli , Silvia Majore , Paola Grammatico

A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.

American journal of human genetics

Avec: Edoardo Monfrini , Sara Pelucchi , Maija Hollmén , Miro Viitala , Raffaella Mariani , Francesca Bertola , Silvia Majore , Alessio Di Fonzo , Alberto Piperno

The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype.

Clinical genetics

Avec: Giulia Pascolini , Emanuele Agolini , Antonio Novelli , Silvia Majore , Paola Grammatico

Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: D D'Angelantonio , S Majore , T Di Netta , F Zotta , G Parise , E Savino , S Rosignoli , B Bizzarri , F Signore , P Grammatico , I Bottillo

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.

Genes

Avec: Letizia Camerota , Marco Ritelli , Anita Wischmeijer , Silvia Majore , Valeria Cinquina , Paola Fortugno , Rosanna Monetta , Laura Gigante , Marfan Syndrome Study Group Tor Vergata University Hospital , Federica Carla Sangiuolo , Giuseppe Novelli , Marina Colombi , Francesco Brancati

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.

Psychiatric genetics

Avec: Giulia Pascolini , Silvia Majore , Michele Valiante , Irene Bottillo , Luigi Laino , Emanuele Agolini , Antonio Novelli , Barbara Grammatico , Mauro Calvani , Paola Grammatico

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.

Clinical genetics

Avec: Silvia Majore , Emanuele Agolini , Lucia Micale , Giulia Pascolini , Paolo Zuppi , Dario Cocciadiferro , Silvia Morlino , Matteo Mattiuzzo , Michele Valiante , Marco Castori , Antonio Novelli , Paola Grammatico

Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.

Journal of molecular neuroscience : MN

Avec: Giulia Pascolini , Federica Gaudioso , Chiara Passarelli , Antonio Novelli , Niccolò Di Giosaffatte , Silvia Majore , Paola Grammatico

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

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Human genetics

Avec: Maria Pia Leone , Silvia Morlino , Grazia Nardella , Riccardo Pracella , Daniela Giachino , Luca Celli , Demetrio Baldo , Licia Turolla , Maria Piccione , Emanuela Salzano , Martina Busè , Patrizia Lastella , Marcella Zollino , Rachele Cantone , Enrico Grosso , Andrea Zonta , Barbara Pasini , Carmelo Piscopo , Ilaria De Maggio , Manuela Priolo , Corrado Mammi , Thomas Foiadelli , Chiara Trabatti , Salvatore Savasta , Achille Iolascon , Alessandro Ferraris , Valentina Lodato , Niccolò Di Giosaffatte , Silvia Majore , Angelo Selicorni , Antonio Petracca , Carmela Fusco , Mauro Celli , Vito Guarnieri , Lucia Micale , Marco Castori

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.

International journal of molecular sciences

Avec: Paola De Simone , Irene Bottillo , Michele Valiante , Alessandra Iorio , Carmelilia De Bernardo , Silvia Majore , Daniela D'Angelantonio , Tiziana Valentini , Isabella Sperduti , Paolo Piemonte , Laura Eibenschutz , Angela Ferrari , Anna Carbone , Pierluigi Buccini , Alessandro Paiardini , Vitaliano Silipo , Pasquale Frascione , Paola Grammatico

Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres.

Annals of hematology

Avec: M Rinelli , E Bellacchio , F Berardinelli , G Pascolini , P Grammatico , A Sgura , A P Iori , L Quattrocchi , A Novelli , S Majore , E Agolini

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

Germline

International journal of molecular sciences

Avec: Elisa Adele Colombo , Michele Valiante , Matteo Uggeri , Alessandro Orro , Silvia Majore , Paola Grammatico , Davide Gentilini , Palma Finelli , Cristina Gervasini , Pasqualina D'Ursi , Lidia Larizza

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Frederike L Harms , Alexander J M Dingemans , Maja Hempel , Rolph Pfundt , Tatjana Bierhals , Christian Casar , Christian Müller , Jikke-Mien F Niermeijer , Jan Fischer , Arne Jahn , Christoph Hübner , Silvia Majore , Emanuele Agolini , Antonio Novelli , Jasper van der Smagt , Robert Ernst , Ellen van Binsbergen , Grazia M S Mancini , Marjon van Slegtenhorst , Tahsin Stefan Barakat , Emma L Wakeling , Arveen Kamath , Lilian Downie , Lynn Pais , Susan M White , Bert B A de Vries , Kerstin Kutsche

Réseau de co-auteurs

Silvia Majore 14 collaborations

Paola Grammatico 10 collaborations

Giulia Pascolini 6 collaborations

Antonio Novelli 6 collaborations

Emanuele Agolini 5 collaborations

Michele Valiante 5 collaborations

Alessandro Ferraris 4 collaborations

Irene Bottillo 4 collaborations

Niccolò Di Giosaffatte 3 collaborations

Nicole Fleischer 2 collaborations

P Grammatico 2 collaborations

Luigi Laino 2 collaborations

Barbara Grammatico 2 collaborations

Lucia Micale 2 collaborations

Silvia Morlino 2 collaborations

Marco Castori 2 collaborations

Federica Gaudioso 2 collaborations

Emanuele Savino 2 collaborations

Simone Bargiacchi 2 collaborations

Daniela D'Angelantonio 2 collaborations

Valentina Lodato 2 collaborations

Elisa Gulotta 1 collaboration

Claudia Cesario 1 collaboration

Gemma D'Elia 1 collaboration

Edoardo Monfrini 1 collaboration

Sara Pelucchi 1 collaboration

Maija Hollmén 1 collaboration

Miro Viitala 1 collaboration

Raffaella Mariani 1 collaboration

Francesca Bertola 1 collaboration

Alessio Di Fonzo 1 collaboration

Alberto Piperno 1 collaboration

D D'Angelantonio 1 collaboration

T Di Netta 1 collaboration

F Zotta 1 collaboration

G Parise 1 collaboration

E Savino 1 collaboration

S Rosignoli 1 collaboration

B Bizzarri 1 collaboration

F Signore 1 collaboration

I Bottillo 1 collaboration

Letizia Camerota 1 collaboration

Marco Ritelli 1 collaboration

Anita Wischmeijer 1 collaboration

Valeria Cinquina 1 collaboration

Paola Fortugno 1 collaboration

Rosanna Monetta 1 collaboration

Laura Gigante 1 collaboration

None Marfan Syndrome Study Group Tor Vergata University Hospital 1 collaboration

Federica Carla Sangiuolo 1 collaboration

Giuseppe Novelli 1 collaboration

Marina Colombi 1 collaboration

Francesco Brancati 1 collaboration

Mauro Calvani 1 collaboration

Paolo Zuppi 1 collaboration

Dario Cocciadiferro 1 collaboration

Matteo Mattiuzzo 1 collaboration

Chiara Passarelli 1 collaboration

Claudia Mulargia 1 collaboration

Valentina Rossi 1 collaboration

Francesca Svegliati 1 collaboration

Maria Pia Ciccone 1 collaboration

Francesca Brusco 1 collaboration

Gianluca Di Giacomo 1 collaboration

Maria Pia Leone 1 collaboration

Grazia Nardella 1 collaboration

Riccardo Pracella 1 collaboration

Daniela Giachino 1 collaboration

Luca Celli 1 collaboration

Demetrio Baldo 1 collaboration

Licia Turolla 1 collaboration

Maria Piccione 1 collaboration

Emanuela Salzano 1 collaboration

Martina Busè 1 collaboration

Patrizia Lastella 1 collaboration

Marcella Zollino 1 collaboration

Rachele Cantone 1 collaboration

Enrico Grosso 1 collaboration

Andrea Zonta 1 collaboration

Barbara Pasini 1 collaboration

Carmelo Piscopo 1 collaboration

Ilaria De Maggio 1 collaboration

Manuela Priolo 1 collaboration

Corrado Mammi 1 collaboration

Thomas Foiadelli 1 collaboration

Chiara Trabatti 1 collaboration

Salvatore Savasta 1 collaboration

Achille Iolascon 1 collaboration

Angelo Selicorni 1 collaboration

Antonio Petracca 1 collaboration

Carmela Fusco 1 collaboration

Mauro Celli 1 collaboration

Vito Guarnieri 1 collaboration

Paola De Simone 1 collaboration

Alessandra Iorio 1 collaboration

Carmelilia De Bernardo 1 collaboration

Tiziana Valentini 1 collaboration

Isabella Sperduti 1 collaboration

Paolo Piemonte 1 collaboration

Laura Eibenschutz 1 collaboration

Angela Ferrari 1 collaboration

Anna Carbone 1 collaboration

Pierluigi Buccini 1 collaboration

Alessandro Paiardini 1 collaboration

Vitaliano Silipo 1 collaboration

Pasquale Frascione 1 collaboration

M Rinelli 1 collaboration

E Bellacchio 1 collaboration

F Berardinelli 1 collaboration

G Pascolini 1 collaboration

A Sgura 1 collaboration

A P Iori 1 collaboration

L Quattrocchi 1 collaboration

A Novelli 1 collaboration

E Agolini 1 collaboration

Claudia Celletti 1 collaboration

Filippo Camerota 1 collaboration

Elisa Adele Colombo 1 collaboration

Matteo Uggeri 1 collaboration

Alessandro Orro 1 collaboration

Davide Gentilini 1 collaboration

Palma Finelli 1 collaboration

Cristina Gervasini 1 collaboration

Pasqualina D'Ursi 1 collaboration

Lidia Larizza 1 collaboration

Frederike L Harms 1 collaboration

Alexander J M Dingemans 1 collaboration

Maja Hempel 1 collaboration

Rolph Pfundt 1 collaboration

Tatjana Bierhals 1 collaboration

Christian Casar 1 collaboration

Christian Müller 1 collaboration

Jikke-Mien F Niermeijer 1 collaboration

Jan Fischer 1 collaboration

Arne Jahn 1 collaboration

Christoph Hübner 1 collaboration

Jasper van der Smagt 1 collaboration

Robert Ernst 1 collaboration

Ellen van Binsbergen 1 collaboration

Grazia M S Mancini 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Emma L Wakeling 1 collaboration

Arveen Kamath 1 collaboration

Lilian Downie 1 collaboration

Lynn Pais 1 collaboration

Susan M White 1 collaboration

Bert B A de Vries 1 collaboration

Kerstin Kutsche 1 collaboration