Chiara Calacci

Affiliations

Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.

Publications (7)

Homozygous

International journal of molecular sciences

Avec: Viola Alesi , Maria Lisa Dentici , Silvia Genovese , Sara Loddo , Emanuele Bellacchio , Valeria Orlando , Silvia Di Tommaso , Giorgia Catino , Chiara Calacci , Giusy Calvieri , Daniele Pompili , Graziamaria Ubertini , Bruno Dallapiccola , Rossella Capolino , Antonio Novelli

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.

American journal of medical genetics. Part A

Avec: Viola Alesi , Sara Loddo , Valeria Orlando , Silvia Genovese , Silvia Di Tommaso , Maria Teresa Liambo , Daniele Pompili , Daniele Ferretti , Chiara Calacci , Giorgia Catino , Roberto Falasca , Maria Lisa Dentici , Antonio Novelli , Maria Cristina Digilio , Bruno Dallapiccola

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.

Human genomics

Avec: V Alesi , S Genovese , M C Roberti , E Sallicandro , S Di Tommaso , S Loddo , V Orlando , D Pompili , C Calacci , V Mei , E Pisaneschi , M V Faggiano , A Morgia , C Mammì , G Astrea , R Battini , M Priolo , M L Dentici , R Milone , A Novelli

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.

American journal of medical genetics. Part A

Avec: Viola Alesi , Sara Loddo , Federica Calì , Valeria Orlando , Silvia Genovese , Daniele Ferretti , Chiara Calacci , Giusy Calvieri , Roberto Falasca , Lucia Ulgheri , Fabrizio Drago , Bruno Dallapiccola , Anwar Baban , Antonio Novelli

Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders.

Psychiatric genetics

Avec: Alessia Bauleo , Alberto Montesanto , Vincenza Pace , Rossella Brando , Laura De Stefano , Domenica Puntorieri , Luca Cento , Sara Loddo , Chiara Calacci , Antonio Novelli , Elena Falcone

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.

Annals of human genetics

Avec: Viola Alesi , Maria Lisa Dentici , Sara Loddo , Silvia Genovese , Valeria Orlando , Chiara Calacci , Daniele Pompili , Bruno Dallapiccola , Maria Cristina Digilio , Antonio Novelli

Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.

Reproductive sciences (Thousand Oaks, Calif.)

Avec: Valeria Orlando , Viola Alesi , Gianluca Di Giacomo , Michela Canestrelli , Chiara Calacci , Anna Maria Nardone , Giusy Calvieri , Maria Teresa Liambo , Ester Sallicandro , Silvia Di Tommaso , Maria Grazia Di Gregorio , Francesco Corrado , Giuseppe Barrano , Marcello Niceta , Bruno Dallapiccola , Antonio Novelli

Réseau de co-auteurs

Antonio Novelli 6 collaborations

Viola Alesi 5 collaborations

Sara Loddo 5 collaborations

Valeria Orlando 5 collaborations

Bruno Dallapiccola 5 collaborations

Silvia Genovese 4 collaborations

Maria Lisa Dentici 3 collaborations

Silvia Di Tommaso 3 collaborations

Giusy Calvieri 3 collaborations

Daniele Pompili 3 collaborations

Giorgia Catino 2 collaborations

Maria Teresa Liambo 2 collaborations

Daniele Ferretti 2 collaborations

Roberto Falasca 2 collaborations

Maria Cristina Digilio 2 collaborations

Emanuele Bellacchio 1 collaboration

Graziamaria Ubertini 1 collaboration

Rossella Capolino 1 collaboration

V Alesi 1 collaboration

S Genovese 1 collaboration

M C Roberti 1 collaboration

E Sallicandro 1 collaboration

S Di Tommaso 1 collaboration

S Loddo 1 collaboration

V Orlando 1 collaboration

D Pompili 1 collaboration

C Calacci 1 collaboration

V Mei 1 collaboration

E Pisaneschi 1 collaboration

M V Faggiano 1 collaboration

A Morgia 1 collaboration

C Mammì 1 collaboration

G Astrea 1 collaboration

R Battini 1 collaboration

M Priolo 1 collaboration

M L Dentici 1 collaboration

R Milone 1 collaboration

A Novelli 1 collaboration

Federica Calì 1 collaboration

Lucia Ulgheri 1 collaboration

Fabrizio Drago 1 collaboration

Anwar Baban 1 collaboration

Alessia Bauleo 1 collaboration

Alberto Montesanto 1 collaboration

Vincenza Pace 1 collaboration

Rossella Brando 1 collaboration

Laura De Stefano 1 collaboration

Domenica Puntorieri 1 collaboration

Luca Cento 1 collaboration

Elena Falcone 1 collaboration

Gianluca Di Giacomo 1 collaboration

Michela Canestrelli 1 collaboration

Anna Maria Nardone 1 collaboration

Ester Sallicandro 1 collaboration

Maria Grazia Di Gregorio 1 collaboration

Francesco Corrado 1 collaboration

Giuseppe Barrano 1 collaboration

Marcello Niceta 1 collaboration