Giulia Pascolini

Affiliations

Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital.

Publications (18)

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

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

Psychiatric genetics

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

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.

American journal of human genetics

Avec: Michael S Breen , Paras Garg , Lara Tang , Danielle Mendonca , Tess Levy , Mafalda Barbosa , Anne B Arnett , Evangeline Kurtz-Nelson , Emanuele Agolini , Agatino Battaglia , Andreas G Chiocchetti , Christine M Freitag , Alicia Garcia-Alcon , Paola Grammatico , Irva Hertz-Picciotto , Yunin Ludena-Rodriguez , Carmen Moreno , Antonio Novelli , Mara Parellada , Flora Tassone , Dorothy E Grice , Daniele Di Marino , Raphael A Bernier , Alexander Kolevzon , Andrew J Sharp , Joseph D Buxbaum , Paige M Siper , Silvia De Rubeis

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

Clinical genetics

Avec: Silvia Majore , Emanuele Agolini , Lucia Micale , 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: Federica Gaudioso , Chiara Passarelli , Antonio Novelli , Niccolò Di Giosaffatte , Silvia Majore , Paola Grammatico

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.

Frontiers in cardiovascular medicine

Avec: Anwar Baban , Marianna Cicenia , Monia Magliozzi , Giovanni Parlapiano , Marco Cirillo , Fabiana Fattori , Maria Gnazzo , Pasqualina Bruno , Lorenzo De Luca , Luca Di Chiara , Paola Francalanci , Bjarne Udd , Aurelio Secinaro , Antonio Amodeo , Enrico Silvio Bertini , Marco Savarese , Fabrizio Drago , Antonio Novelli

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

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.

European journal of medical genetics

Avec: Michele Valiante , Irene Bottillo , Luigi Laino , Nicole Fleischer , Alessandro Ferraris , Paola Grammatico

Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.

Journal of human genetics

Avec: Federica Gaudioso , Marina Baldi , Dario Alario , Francesco Dituri , Antonio Novelli , Anwar Baban

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

Clinical genetics

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

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

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

Avec: Holly K Harris , Tojo Nakayama , Jenny Lai , Boxun Zhao , Nikoleta Argyrou , Cynthia S Gubbels , Aubrie Soucy , Casie A Genetti , Victoria Suslovitch , Lance H Rodan , George E Tiller , Gaetan Lesca , Karen W Gripp , Reza Asadollahi , Ada Hamosh , Carolyn D Applegate , Peter D Turnpenny , Marleen E H Simon , Catharina M L Volker-Touw , Koen L I van Gassen , Ellen van Binsbergen , Rolph Pfundt , Thatjana Gardeitchik , Bert B A de Vries , LaDonna L Immken , Catherine Buchanan , Marcia Willing , Tomi L Toler , Emily Fassi , Laura Baker , Fleur Vansenne , Xiadong Wang , Julian L Ambrus , Madeleine Fannemel , Jennifer E Posey , Emanuele Agolini , Antonio Novelli , Anita Rauch , Paranchai Boonsawat , Christina R Fagerberg , Martin J Larsen , Maria Kibaek , Audrey Labalme , Alice Poisson , Katelyn K Payne , Laurence E Walsh , Kimberly A Aldinger , Jorune Balciuniene , Cara Skraban , Christopher Gray , Jill Murrell , Caleb P Bupp , Paola Grammatico , Martin Broly , Sébastien Küry , Mathilde Nizon , Iqra Ghulam Rasool , Muhammad Yasir Zahoor , Cornelia Kraus , André Reis , Muhammad Iqbal , Kevin Uguen , Severine Audebert-Bellanger , Claude Ferec , Sylvia Redon , Janice Baker , Yunhong Wu , Guiseppe Zampino , Steffan Syrbe , Ines Brosse , Rami Abou Jamra , William B Dobyns , Lilian L Cohen , Anne Blomhoff , Cyril Mignot , Boris Keren , Thomas Courtin , Pankaj B Agrawal , Alan H Beggs , Timothy W Yu

Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant.

Congenital anomalies

Avec:

First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromes.

Italian journal of pediatrics

Avec: Mauro Calvani , Paola Grammatico

Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.

American journal of medical genetics. Part A

Avec: Giovanni Di Zenzo , Annarita Panebianco , Biagio Didona , Illana Gozes

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

Journal of human genetics

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

Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.

American journal of medical genetics. Part A

Avec: Federica Gaudioso , Maria Teresa Fadda , Luigi Laino , Alessandro Ferraris , Paola Grammatico

Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.

Clinical genetics

Avec: Maria Gnazzo , Giovanni Parlapiano , Francesco Petrizzelli , Daniele Perrino , Luigina Porco , Andrea Bartuli , Antonio Novelli , Anwar Baban

The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.

Molecular genetics & genomic medicine

Avec: Martina Lipari , Federica Gaudioso , Luca Fania , Giovanni Di Zenzo , Biagio Didona

Réseau de co-auteurs

Paola Grammatico 11 collaborations

Antonio Novelli 10 collaborations

Silvia Majore 6 collaborations

Emanuele Agolini 6 collaborations

Federica Gaudioso 4 collaborations

Michele Valiante 3 collaborations

Luigi Laino 3 collaborations

Anwar Baban 3 collaborations

Nicole Fleischer 3 collaborations

Alessandro Ferraris 3 collaborations

Irene Bottillo 2 collaborations

Mauro Calvani 2 collaborations

Giovanni Parlapiano 2 collaborations

Maria Gnazzo 2 collaborations

Giovanni Di Zenzo 2 collaborations

Biagio Didona 2 collaborations

M Rinelli 1 collaboration

E Bellacchio 1 collaboration

F Berardinelli 1 collaboration

G Pascolini 1 collaboration

P Grammatico 1 collaboration

A Sgura 1 collaboration

A P Iori 1 collaboration

L Quattrocchi 1 collaboration

A Novelli 1 collaboration

S Majore 1 collaboration

E Agolini 1 collaboration

Barbara Grammatico 1 collaboration

Michael S Breen 1 collaboration

Paras Garg 1 collaboration

Lara Tang 1 collaboration

Danielle Mendonca 1 collaboration

Tess Levy 1 collaboration

Mafalda Barbosa 1 collaboration

Anne B Arnett 1 collaboration

Evangeline Kurtz-Nelson 1 collaboration

Agatino Battaglia 1 collaboration

Andreas G Chiocchetti 1 collaboration

Christine M Freitag 1 collaboration

Alicia Garcia-Alcon 1 collaboration

Irva Hertz-Picciotto 1 collaboration

Yunin Ludena-Rodriguez 1 collaboration

Carmen Moreno 1 collaboration

Mara Parellada 1 collaboration

Flora Tassone 1 collaboration

Dorothy E Grice 1 collaboration

Daniele Di Marino 1 collaboration

Raphael A Bernier 1 collaboration

Alexander Kolevzon 1 collaboration

Andrew J Sharp 1 collaboration

Joseph D Buxbaum 1 collaboration

Paige M Siper 1 collaboration

Silvia De Rubeis 1 collaboration

Lucia Micale 1 collaboration

Paolo Zuppi 1 collaboration

Dario Cocciadiferro 1 collaboration

Silvia Morlino 1 collaboration

Matteo Mattiuzzo 1 collaboration

Marco Castori 1 collaboration

Chiara Passarelli 1 collaboration

Niccolò Di Giosaffatte 1 collaboration

Marianna Cicenia 1 collaboration

Monia Magliozzi 1 collaboration

Marco Cirillo 1 collaboration

Fabiana Fattori 1 collaboration

Pasqualina Bruno 1 collaboration

Lorenzo De Luca 1 collaboration

Luca Di Chiara 1 collaboration

Paola Francalanci 1 collaboration

Bjarne Udd 1 collaboration

Aurelio Secinaro 1 collaboration

Antonio Amodeo 1 collaboration

Enrico Silvio Bertini 1 collaboration

Marco Savarese 1 collaboration

Fabrizio Drago 1 collaboration

Elisa Gulotta 1 collaboration

Claudia Cesario 1 collaboration

Gemma D'Elia 1 collaboration

Marina Baldi 1 collaboration

Dario Alario 1 collaboration

Francesco Dituri 1 collaboration

Holly K Harris 1 collaboration

Tojo Nakayama 1 collaboration

Jenny Lai 1 collaboration

Boxun Zhao 1 collaboration

Nikoleta Argyrou 1 collaboration

Cynthia S Gubbels 1 collaboration

Aubrie Soucy 1 collaboration

Casie A Genetti 1 collaboration

Victoria Suslovitch 1 collaboration

Lance H Rodan 1 collaboration

George E Tiller 1 collaboration

Gaetan Lesca 1 collaboration

Karen W Gripp 1 collaboration

Reza Asadollahi 1 collaboration

Ada Hamosh 1 collaboration

Carolyn D Applegate 1 collaboration

Peter D Turnpenny 1 collaboration

Marleen E H Simon 1 collaboration

Catharina M L Volker-Touw 1 collaboration

Koen L I van Gassen 1 collaboration

Ellen van Binsbergen 1 collaboration

Rolph Pfundt 1 collaboration

Thatjana Gardeitchik 1 collaboration

Bert B A de Vries 1 collaboration

LaDonna L Immken 1 collaboration

Catherine Buchanan 1 collaboration

Marcia Willing 1 collaboration

Tomi L Toler 1 collaboration

Emily Fassi 1 collaboration

Laura Baker 1 collaboration

Fleur Vansenne 1 collaboration

Xiadong Wang 1 collaboration

Julian L Ambrus 1 collaboration

Madeleine Fannemel 1 collaboration

Jennifer E Posey 1 collaboration

Anita Rauch 1 collaboration

Paranchai Boonsawat 1 collaboration

Christina R Fagerberg 1 collaboration

Martin J Larsen 1 collaboration

Maria Kibaek 1 collaboration

Audrey Labalme 1 collaboration

Alice Poisson 1 collaboration

Katelyn K Payne 1 collaboration

Laurence E Walsh 1 collaboration

Kimberly A Aldinger 1 collaboration

Jorune Balciuniene 1 collaboration

Cara Skraban 1 collaboration

Christopher Gray 1 collaboration

Jill Murrell 1 collaboration

Caleb P Bupp 1 collaboration

Martin Broly 1 collaboration

Sébastien Küry 1 collaboration

Mathilde Nizon 1 collaboration

Iqra Ghulam Rasool 1 collaboration

Muhammad Yasir Zahoor 1 collaboration

Cornelia Kraus 1 collaboration

André Reis 1 collaboration

Muhammad Iqbal 1 collaboration

Kevin Uguen 1 collaboration

Severine Audebert-Bellanger 1 collaboration

Claude Ferec 1 collaboration

Sylvia Redon 1 collaboration

Janice Baker 1 collaboration

Yunhong Wu 1 collaboration

Guiseppe Zampino 1 collaboration

Steffan Syrbe 1 collaboration

Ines Brosse 1 collaboration

Rami Abou Jamra 1 collaboration

William B Dobyns 1 collaboration

Lilian L Cohen 1 collaboration

Anne Blomhoff 1 collaboration

Cyril Mignot 1 collaboration

Boris Keren 1 collaboration

Thomas Courtin 1 collaboration

Pankaj B Agrawal 1 collaboration

Alan H Beggs 1 collaboration

Timothy W Yu 1 collaboration

Annarita Panebianco 1 collaboration

Illana Gozes 1 collaboration

Maria Teresa Fadda 1 collaboration

Francesco Petrizzelli 1 collaboration

Daniele Perrino 1 collaboration

Luigina Porco 1 collaboration

Andrea Bartuli 1 collaboration

Martina Lipari 1 collaboration

Luca Fania 1 collaboration