Bruno Dallapiccola

Affiliations
  • Genetics and Rare Diseases Research Division, Molecular Genetics and Functional Genomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Publications (61)

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

American journal of medical genetics. Part A
Avec: Bradley Bowles , Alejandro Ferrer , Carla J Nishimura , Filippo Pinto E Vairo , Tristan Rey , Bruno Leheup , Jennifer Sullivan , Kelly Schoch , Nicholas Stong , Emanuele Agolini , Dario Cocciadiferro , Abigail Williams , Alex Cummings , Sara Loddo , Silvia Genovese , Chelsea Roadhouse , Kirsty McWalter , Auteur inconnu , Ingrid M Wentzensen , Chumei Li , Dusica Babovic-Vuksanovic , Brendan C Lanpher , Maria Lisa Dentici , Arun Ankala , J Austin Hamm , Bruno Dallapiccola , Francesca Clementina Radio , Vandana Shashi , Benedicte Gérard , Agnes Bloch-Zupan , Richard J Smith , Eric W Klee

Cross-correlation of virome-bacteriome-host-metabolome to study respiratory health.

Trends in microbiology
Avec: Andrea Iorio , Manuele Biazzo , Simone Gardini , Andrea Onetti Muda , Carlo Federico Perno , Bruno Dallapiccola , Lorenza Putignani

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

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.

European journal of medical genetics
Avec: Marcello Niceta , Sabina Barresi , Francesca Pantaleoni , Rossella Capolino , Maria Lisa Dentici , Andrea Ciolfi , Simone Pizzi , Andrea Bartuli , Bruno Dallapiccola , Marco Tartaglia , Maria Cristina Digilio

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

Molecular cytogenetics
Avec: Fabrizia Restaldi , Viola Alesi , Angela Aquilani , Silvia Genovese , Serena Russo , Valentina Coletti , Daniele Pompili , Roberto Falasca , Bruno Dallapiccola , Rossella Capolino , Matteo Luciani , Antonio Novelli

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.

International journal of molecular sciences
Avec: Kyle W Davis , Moises Serrano , Sara Loddo , Catherine Robinson , Viola Alesi , Bruno Dallapiccola , Antonio Novelli , Merlin G Butler

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.

Medicine
Avec: Dario Cocciadiferro , Emanuele Agolini , Maria Cristina Digilio , Lorenzo Sinibaldi , Marco Castori , Evelina Silvestri , Andrea Dotta , Bruno Dallapiccola , Antonio Novelli

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

American journal of human genetics
Avec: Francesca Clementina Radio , Kaifang Pang , Andrea Ciolfi , Michael A Levy , Andrés Hernández-García , Lucia Pedace , Francesca Pantaleoni , Zhandong Liu , Elke de Boer , Adam Jackson , Alessandro Bruselles , Haley McConkey , Emilia Stellacci , Stefania Lo Cicero , Marialetizia Motta , Rosalba Carrozzo , Maria Lisa Dentici , Kirsty McWalter , Megha Desai , Kristin G Monaghan , Aida Telegrafi , Christophe Philippe , Antonio Vitobello , Margaret Au , Katheryn Grand , Pedro A Sanchez-Lara , Joanne Baez , Kristin Lindstrom , Peggy Kulch , Jessica Sebastian , Suneeta Madan-Khetarpal , Chelsea Roadhouse , Jennifer J MacKenzie , Berrin Monteleone , Carol J Saunders , July K Jean Cuevas , Laura Cross , Dihong Zhou , Taila Hartley , Sarah L Sawyer , Fabíola Paoli Monteiro , Tania Vertemati Secches , Fernando Kok , Laura E Schultz-Rogers , Erica L Macke , Eva Morava , Eric W Klee , Jennifer Kemppainen , Maria Iascone , Angelo Selicorni , Romano Tenconi , David J Amor , Lynn Pais , Lyndon Gallacher , Peter D Turnpenny , Karen Stals , Sian Ellard , Sara Cabet , Gaetan Lesca , Joset Pascal , Katharina Steindl , Sarit Ravid , Karin Weiss , Alison M R Castle , Melissa T Carter , Louisa Kalsner , Bert B A de Vries , Bregje W van Bon , Marijke R Wevers , Rolph Pfundt , Alexander P A Stegmann , Bronwyn Kerr , Helen M Kingston , Kate E Chandler , Willow Sheehan , Abdallah F Elias , Deepali N Shinde , Meghan C Towne , Nathaniel H Robin , Dana Goodloe , Adeline Vanderver , Omar Sherbini , Krista Bluske , R Tanner Hagelstrom , Caterina Zanus , Flavio Faletra , Luciana Musante , Evangeline C Kurtz-Nelson , Rachel K Earl , Britt-Marie Anderlid , Gilles Morin , Marjon van Slegtenhorst , Karin E M Diderich , Alice S Brooks , Joost Gribnau , Ruben G Boers , Teresa Robert Finestra , Lauren B Carter , Anita Rauch , Paolo Gasparini , Kym M Boycott , Tahsin Stefan Barakat , John M Graham , Laurence Faivre , Siddharth Banka , Tianyun Wang , Evan E Eichler , Manuela Priolo , Bruno Dallapiccola , Lisenka E L M Vissers , Bekim Sadikovic , Daryl A Scott , Jimmy Lloyd Holder , Marco Tartaglia

Congenital heart defects in molecularly confirmed KBG syndrome patients.

American journal of medical genetics. Part A
Avec: Maria Cristina Digilio , Giulio Calcagni , Maria Gnazzo , Paolo Versacci , Maria Lisa Dentici , Rossella Capolino , Lorenzo Sinibaldi , Anwar Baban , Carolina Putotto , Paolo Alfieri , Marta Unolt , Francesca R Lepri , Viola Alesi , Silvia Genovese , Antonio Novelli , Bruno Marino , Bruno Dallapiccola

Organ donation from patients with a rare disease is often safe: the italian guidelines.

Clinical transplantation
Avec: Bruno Dallapiccola , Stefano Moriconi , Massimo Rugge , Massimo Cardillo , Carlo Carcassi , Michele Colledan , Luca Dello Strologo , Carlo Dionisi Vici , Paola Facchin , Bruno Gridelli , Valentino La Rocca , Letizia Lombardini , Monica Mazzucato , Daniela Peritore , Antonio Amoroso

A Complex Genomic Rearrangement Resulting in Loss of Function of

International journal of molecular sciences
Avec: Valeria Orlando , Silvia Di Tommaso , Viola Alesi , Sara Loddo , Silvia Genovese , Giorgia Catino , Licia Martucci , Maria Cristina Roberti , Marina Trivisano , Maria Lisa Dentici , Nicola Specchio , Bruno Dallapiccola , Alessandro Ferretti , Antonio Novelli

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anne-Sophie Denommé-Pichon , Leslie Matalonga , Elke de Boer , Adam Jackson , Elisa Benetti , Siddharth Banka , Ange-Line Bruel , Andrea Ciolfi , Jill Clayton-Smith , Bruno Dallapiccola , Yannis Duffourd , Kornelia Ellwanger , Chiara Fallerini , Christian Gilissen , Holm Graessner , Tobias B Haack , Marketa Havlovicova , Alexander Hoischen , Nolwenn Jean-Marçais , Tjitske Kleefstra , Estrella López-Martín , Milan Macek , Maria Antonietta Mencarelli , Sébastien Moutton , Rolph Pfundt , Simone Pizzi , Manuel Posada , Francesca Clementina Radio , Alessandra Renieri , Caroline Rooryck , Lukas Ryba , Hana Safraou , Martin Schwarz , Marco Tartaglia , Christel Thauvin-Robinet , Julien Thevenon , Frédéric Tran Mau-Them , Aurélien Trimouille , Pavel Votypka , Bert B A de Vries , Marjolein H Willemsen , Birte Zurek , Alain Verloes , Christophe Philippe , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Antonio Vitobello , Lisenka E L M Vissers , Laurence Faivre

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.

Archives of public health = Archives belges de sante publique
Avec: Mario Cesare Nurchis , Gerardo Altamura , Maria Teresa Riccardi , Francesca Clementina Radio , Giovanni Chillemi , Enrico Silvio Bertini , Jacopo Garlasco , Marco Tartaglia , Bruno Dallapiccola , Gianfranco Damiani

Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

American journal of medical genetics. Part A
Avec: Anwar Baban , Rachele Adorisio , Bernadette Corica , Cristiano Rizzo , Federica Calì , Michela Semeraro , Roberta Taurisano , Monia Magliozzi , Rosalba Carrozzo , Francesco Parisi , Bruno Dallapiccola , Frédéric M Vaz , Fabrizio Drago , Carlo Dionisi-Vici

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.

Clinical epigenetics
Avec: Andrea Ciolfi , Erfan Aref-Eshghi , Simone Pizzi , Lucia Pedace , Evelina Miele , Jennifer Kerkhof , Elisabetta Flex , Simone Martinelli , Francesca Clementina Radio , Claudia A L Ruivenkamp , Gijs W E Santen , Emilia Bijlsma , Daniela Barge-Schaapveld , Katrin Ounap , Victoria Mok Siu , R Frank Kooy , Bruno Dallapiccola , Bekim Sadikovic , Marco Tartaglia

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.

BMC pediatrics
Avec: Marcello Niceta , Maria Lisa Dentici , Andrea Ciolfi , Romana Marini , Sabina Barresi , Francesca Romana Lepri , Antonio Novelli , Enrico Bertini , Marco Cappa , Maria Cristina Digilio , Bruno Dallapiccola , Marco Tartaglia

Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited.

Minerva pediatrics
Avec: Anwar Baban , Marianna Cicenia , Lorena Travaglini , Federica Calì , Gessica Vasco , Paola Francalanci , Antonio Novelli , Rachele Adorisio , Antonio Amodeo , Bruno Dallapiccola , Enrico Bertini , Fabrizio Drago

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.

Brain sciences
Avec: Maria Lisa Dentici , Paola Bergonzini , Francesco Scibelli , Cristina Caciolo , Paola De Rose , Francesca Cumbo , Viola Alesi , Rossella Capolino , Ginevra Zanni , Lorenzo Sinibaldi , Antonio Novelli , Marco Tartaglia , Maria Cristina Digilio , Bruno Dallapiccola , Stefano Vicari , Paolo Alfieri

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

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Clinical genetics
Avec: Valentina Guida , Francesca Piceci Sparascio , Laura Bernardini , Francesco Pancheri , Daniela Melis , Dario Cocciadiferro , Mario Pagnoni , Marianna Puzzo , Marina Goldoni , Chiara Barone , Hossein Hozhabri , Carolina Putotto , Maria Grazia Giuffrida , Silvana Briuglia , Orazio Palumbo , Sebastiano Bianca , Franco Stanzial , Francesco Benedicenti , Ariana Kariminejad , Francesca Forzano , Leila Baghernajad Salehi , Teresa Mattina , Francesco Brancati , Marco Castori , Massimo Carella , Maria Teresa Fadda , Giorgio Iannetti , Bruno Dallapiccola , Maria Cristina Digilio , Bruno Marino , Marco Tartaglia , Alessandro De Luca

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.

Genes
Avec: Manuela Priolo , Cecilia Mancini , Simone Pizzi , Luigi Chiriatti , Francesca Clementina Radio , Viviana Cordeddu , Letizia Pintomalli , Corrado Mammì , Bruno Dallapiccola , Marco Tartaglia

Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains.

Frontiers in molecular neuroscience
Avec: Giulia Fasano , Claudia Compagnucci , Bruno Dallapiccola , Marco Tartaglia , Antonella Lauri

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

American journal of human genetics
Avec: Vincenzo Salpietro , Reza Maroofian , Maha S Zaki , Jamie Wangen , Andrea Ciolfi , Sabina Barresi , Stephanie Efthymiou , Angelique Lamaze , Gabriel N Aughey , Fuad Al Mutairi , Aboulfazl Rad , Clarissa Rocca , Elisa Calì , Andrea Accogli , Federico Zara , Pasquale Striano , Majid Mojarrad , Huma Tariq , Edoardo Giacopuzzi , Jenny C Taylor , Gabriela Oprea , Volha Skrahina , Khalil Ur Rehman , Marwa Abd Elmaksoud , Mahmoud Bassiony , Huda G El Said , Mohamed S Abdel-Hamid , Maha Al Shalan , Gohun Seo , Sohyun Kim , Hane Lee , Rin Khang , Mahmoud Y Issa , Hasnaa M Elbendary , Karima Rafat , Nikolaos M Marinakis , Joanne Traeger-Synodinos , Athina Ververi , Mara Sourmpi , Atieh Eslahi , Farhad Khadivi Zand , Mehran Beiraghi Toosi , Meisam Babaei , Adam Jackson , Auteur inconnu , Aida Bertoli-Avella , Alistair T Pagnamenta , Marcello Niceta , Roberta Battini , Antonio Corsello , Chiara Leoni , Francesco Chiarelli , Bruno Dallapiccola , Eissa Ali Faqeih , Krishnaraya K Tallur , Majid Alfadhel , Eman Alobeid , Sateesh Maddirevula , Kshitij Mankad , Siddharth Banka , Ehsan Ghayoor-Karimiani , Marco Tartaglia , Wendy K Chung , Rachel Green , Fowzan S Alkuraya , James E C Jepson , Henry Houlden

Robert J. Gorlin: Personal Memory of a Friend and Mentor in Clinical Genetics.

Audiology research
Avec: Bruno Dallapiccola , Rita Mingarelli

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

European journal of human genetics : EJHG
Avec: Maria Lisa Dentici , Marcello Niceta , Francesca Romana Lepri , Cecilia Mancini , Manuela Priolo , Adeline Alice Bonnard , Camilla Cappelletti , Chiara Leoni , Andrea Ciolfi , Simone Pizzi , Viviana Cordeddu , Cesare Rossi , Marco Ferilli , Mafalda Mucciolo , Vito Luigi Colona , Christine Fauth , Melissa Bellini , Giacomo Biasucci , Lorenzo Sinibaldi , Silvana Briuglia , Andrea Gazzin , Diana Carli , Luigi Memo , Eva Trevisson , Concetta Schiavariello , Maria Luca , Antonio Novelli , Caroline Michot , Anne Sweertvaegher , David Germanaud , Emanuela Scarano , Alessandro De Luca , Giuseppe Zampino , Martin Zenker , Alessandro Mussa , Bruno Dallapiccola , Helene Cavé , Maria Cristina Digilio , Marco Tartaglia

Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.

Birth defects research
Avec: Giulio Calcagni , Giulia Gagliostro , Giuseppe Limongelli , Marta Unolt , Enrica De Luca , Maria C Digilio , Anwar Baban , Sonia B Albanese , Giovanni B Ferrero , Giuseppina Baldassarre , Gabriella Agnoletti , Elena Banaudi , Jan Marek , Juan P Kaski , Giulia Tuo , Maurizio Marasini , Francesca Cairello , Andrea Madrigali , Giuseppe Pacileo , Maria G Russo , Ornella Milanesi , Roberto Formigari , Maurizio Brighenti , Luca Ragni , Andrea Donti , Fabrizio Drago , Bruno Dallapiccola , Marco Tartaglia , Bruno Marino , Paolo Versacci

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.

American journal of medical genetics. Part A
Avec: Maria L Dentici , Vittorio Maglione , Emanuele Agolini , Gino Catena , Rossella Capolino , Valentina Lanari , Antonio Novelli , Lorenzo Sinibaldi , Davide Vecchio , Michaela V Gonfiantini , Marina Macchiaiolo , Maria C Digilio , Bruno Dallapiccola , Andrea Bartuli

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.

Frontiers in pediatrics
Avec: Anwar Baban , Marianna Cicenia , Monia Magliozzi , Maria Gnazzo , Nicoletta Cantarutti , Massimo Stefano Silvetti , Rachele Adorisio , Bruno Dallapiccola , Enrico Bertini , Antonio Novelli , Fabrizio Drago

Biallelic mutations in the

Journal of medical genetics
Avec: Valeria Morbidoni , Emanuele Agolini , Kevin C Slep , Luca Pannone , Daniela Zuccarello , Matteo Cassina , Enrico Grosso , Giorgia Gai , Leonardo Salviati , Bruno Dallapiccola , Antonio Novelli , Simone Martinelli , Eva Trevisson

Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.

The Journal of clinical investigation
Avec: Pazhanichamy Kalailingam , Kai Qi Wang , Xiu Ru Toh , Toan Q Nguyen , Madhuvanthi Chandrakanthan , Zafrul Hasan , Clair Habib , Aharon Schif , Francesca Clementina Radio , Bruno Dallapiccola , Karin Weiss , Long N Nguyen

Association of Bright Liver With the PNPLA3 I148M Gene Variant in 1-Year-Old Toddlers.

The Journal of clinical endocrinology and metabolism
Avec: Giorgio Bedogni , Giuseppe De Matteis , Marta Fabrizi , Anna Alisi , Annalisa Crudele , Fabrizio Pizzolante , Fabrizio Signore , Bruno Dallapiccola , Valerio Nobili , Melania Manco

Expanding the clinical spectrum associated with PACS2 mutations.

Clinical genetics
Avec: Maria L Dentici , Sabina Barresi , Marcello Niceta , Andrea Ciolfi , Marina Trivisano , Andrea Bartuli , Maria C Digilio , Nicola Specchio , Bruno Dallapiccola , Marco Tartaglia

Microbiome Analytics of the Gut Microbiota in Patients With Juvenile Idiopathic Arthritis: A Longitudinal Observational Cohort Study.

Arthritis & rheumatology (Hoboken, N.J.)
Avec: E H Pieter van Dijkhuizen , Federica Del Chierico , Clara Malattia , Alessandra Russo , Denise Pires Marafon , Nienke M Ter Haar , Silvia Magni-Manzoni , Sebastiaan J Vastert , Bruno Dallapiccola , Berent Prakken , Alberto Martini , Fabrizio De Benedetti , Lorenza Putignani , Auteur inconnu

Biallelic variants in

Journal of medical genetics
Avec: Maria Lisa Dentici , Viola Alesi , Mathieu Quinodoz , Barbara Robens , Andrea Guerin , Sébastien Lebon , Annapurna Poduri , Lorena Travaglini , Federica Graziola , Alexandra Afenjar , Boris Keren , Valerio Licursi , Alessandro Capuano , Bruno Dallapiccola , Andrea Superti-Furga , Antonio Novelli

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

American journal of human genetics
Avec: Marialetizia Motta , Giulia Fasano , Sina Gredy , Julia Brinkmann , Adeline Alice Bonnard , Pelin Ozlem Simsek-Kiper , Elif Yilmaz Gulec , Leila Essaddam , Gulen Eda Utine , Ingrid Guarnetti Prandi , Martina Venditti , Francesca Pantaleoni , Francesca Clementina Radio , Andrea Ciolfi , Stefania Petrini , Federica Consoli , Cédric Vignal , Denis Hepbasli , Melanie Ullrich , Elke de Boer , Lisenka E L M Vissers , Sami Gritli , Cesare Rossi , Alessandro De Luca , Saayda Ben Becher , Bruce D Gelb , Bruno Dallapiccola , Antonella Lauri , Giovanni Chillemi , Kai Schuh , Hélène Cavé , Martin Zenker , Marco Tartaglia

Frontiers in cell and developmental biology
Avec: Antonella Lauri , Giulia Fasano , Martina Venditti , Bruno Dallapiccola , Marco Tartaglia

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying

Genes
Avec: Marco Ferilli , Andrea Ciolfi , Lucia Pedace , Marcello Niceta , Francesca Clementina Radio , Simone Pizzi , Evelina Miele , Camilla Cappelletti , Cecilia Mancini , Tiziana Galluccio , Marco Andreani , Maria Iascone , Luigi Chiriatti , Antonio Novelli , Alessia Micalizzi , Marta Matraxia , Lucia Menale , Flavio Faletra , Paolo Prontera , Alba Pilotta , Maria Francesca Bedeschi , Rossella Capolino , Anwar Baban , Marco Seri , Corrado Mammì , Giuseppe Zampino , Maria Cristina Digilio , Bruno Dallapiccola , Manuela Priolo , Marco Tartaglia

Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1.

European journal of human genetics : EJHG
Avec: Viola Alesi , Francesca Romana Lepri , Maria Lisa Dentici , Silvia Genovese , Ester Sallicandro , Kristel Bejo , Bruno Dallapiccola , Rossella Capolino , Antonio Novelli , Maria Cristina Digilio

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Nature communications
Avec: Ke Mao , Christelle Borel , Muhammad Ansar , Angad Jolly , Periklis Makrythanasis , Christine Froehlich , Justyna Iwaszkiewicz , Bingqing Wang , Xiaopeng Xu , Qiang Li , Xavier Blanc , Hao Zhu , Qi Chen , Fujun Jin , Harinarayana Ankamreddy , Sunita Singh , Hongyuan Zhang , Xiaogang Wang , Peiwei Chen , Emmanuelle Ranza , Sohail Aziz Paracha , Syed Fahim Shah , Valentina Guida , Francesca Piceci-Sparascio , Daniela Melis , Bruno Dallapiccola , Maria Cristina Digilio , Antonio Novelli , Monia Magliozzi , Maria Teresa Fadda , Haley Streff , Keren Machol , Richard A Lewis , Vincent Zoete , Gabriella Maria Squeo , Paolo Prontera , Giorgia Mancano , Giulia Gori , Milena Mariani , Angelo Selicorni , Stavroula Psoni , Helen Fryssira , Sofia Douzgou , Sandrine Marlin , Saskia Biskup , Alessandro De Luca , Giuseppe Merla , Shouqin Zhao , Timothy C Cox , Andrew K Groves , James R Lupski , Qingguo Zhang , Yong-Biao Zhang , Stylianos E Antonarakis

Analysis of gut microbiota in patients with Williams-Beuren Syndrome reveals dysbiosis linked to clinical manifestations.

Scientific reports
Avec: Federica Del Chierico , Valeria Marzano , Matteo Scanu , Sofia Reddel , Maria Lisa Dentici , Rossella Capolino , Maddalena Di Donato , Iolanda Spasari , Ersilia Vita Fiscarelli , Maria Cristina Digilio , Maria Teresa Abreu , Bruno Dallapiccola , Lorenza Putignani

Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.

Journal of personalized medicine
Avec: Mario Cesare Nurchis , Gian Marco Raspolini , Aurora Heidar Alizadeh , Gerardo Altamura , Francesca Clementina Radio , Marco Tartaglia , Bruno Dallapiccola , Gianfranco Damiani

Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.

JAMA network open
Avec: Mario Cesare Nurchis , Francesca Clementina Radio , Luca Salmasi , Aurora Heidar Alizadeh , Gian Marco Raspolini , Gerardo Altamura , Marco Tartaglia , Bruno Dallapiccola , Elena Pizzo , Maria Michela Gianino , Gianfranco Damiani

Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.

American journal of medical genetics. Part A
Avec: M Cristina Digilio , Monia Magliozzi , Alessandra Di Pede , Laura Valfrè , Maria Lisa Dentici , Cinzia Auriti , Bruno Marino , Antonio Novelli , Bruno Dallapiccola

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.

American journal of medical genetics. Part A
Avec: Anwar Baban , Nicole Olivini , Francesca Romana Lepri , Federica Calì , Mafalda Mucciolo , Maria C Digilio , Giulio Calcagni , Corrado di Mambro , Bruno Dallapiccola , Rachele Adorisio , Antonio Novelli , Fabrizio Drago

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Clinical genetics
Avec: Marcello Niceta , Domenico Barbuti , Neerja Gupta , Carlos Ruggiero , Eduardo F Tizzano , Luitgard Graul-Neumann , Sabina Barresi , Gen Nishimura , Irene Valenzuela , Fermina López-Grondona , Paula Fernandez-Alvarez , Chiara Leoni , Christiane Zweier , Andreas Tzschach , Emilia Stellacci , Andrea Del Fattore , Bruno Dallapiccola , Giuseppe Zampino , Marco Tartaglia

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

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.

Orphanet journal of rare diseases
Avec: Michael Smith , Elizabeth Alexander , Ruta Marcinkute , Dorica Dan , Myfanwy Rawson , Siddharth Banka , Jason Gavin , Hany Mina , Con Hennessy , Florence Riccardi , Francesca Clementina Radio , Marketa Havlovicova , Matteo Cassina , Adela Chirita Emandi , Melanie Fradin , Lianne Gompertz , Ann Nordgren , Rasa Traberg , Massimiliano Rossi , Aurelién Trimouille , Rasika Sowmyalakshmi , Bruno Dallapiccola , Alessandra Renieri , Laurence Faivre , Bronwyn Kerr , Alain Verloes , Jill Clayton-Smith , Sofia Douzgou , Auteur inconnu

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Clinical genetics
Avec: Viviana Cordeddu , Erica L Macke , Francesca Clementina Radio , Stefania Lo Cicero , Francesca Pantaleoni , Massimo Tatti , Emanuele Bellacchio , Andrea Ciolfi , Emanuele Agolini , Alessandro Bruselles , Nicola Brunetti-Pierri , Mohnish Suri , Katherine S Josephs , Meriel McEntagart , Brendan Lanpher , Katherine C Nickels , Andrea Haworth , Laura Reed , Gerarda Cappuccio , Isabella Mammi , Jessica M Tarnowski , Antonio Novelli , Auteur inconnu , Daniela Melis , Bert Callewaert , Bruno Dallapiccola , Eric Klee , Marco Tartaglia

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

American journal of medical genetics. Part A
Avec: Maria Gnazzo , Francesca R Lepri , Maria Lisa Dentici , Rossella Capolino , Elisa Pisaneschi , Emanuele Agolini , Martina Rinelli , Viola Alesi , Paolo Versacci , Silvia Genovese , Claudia Cesario , Lorenzo Sinibaldi , Anwar Baban , Andrea Bartuli , Bruno Marino , Marco Cappa , Bruno Dallapiccola , Antonio Novelli , Maria Cristina Digilio

Fused Omics Data Models Reveal Gut Microbiome Signatures Specific of Inactive Stage of Juvenile Idiopathic Arthritis in Pediatric Patients.

Microorganisms
Avec: Pamela Vernocchi , Federico Marini , Giorgio Capuani , Alberta Tomassini , Giorgia Conta , Federica Del Chierico , Clara Malattia , Fabrizio De Benedetti , Alberto Martini , Bruno Dallapiccola , E H Pieter van Dijkhuizen , Alfredo Miccheli , Lorenza Putignani

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

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.

Clinical genetics
Avec: Emanuele Agolini , Elena Botta , Mariachiara Lodi , Maria Cristina Digilio , Martina Rinelli , Emanuele Bellacchio , Viola Alesi , Tiziana Nardo , Giovanna Zambruno , Donata Orioli , Iside Alessi , Luigi Boccuto , Sabrina Rossi , Andrea Carai , Giovanna Stefania Colafati , Antonella Cacchione , Bruno Dallapiccola , Antonio Novelli , Angela Mastronuzzi

Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.

American journal of medical genetics. Part A
Avec: Giorgia Catino , Silvia Genovese , Silvia Di Tommaso , Valeria Orlando , Maria Teresa Petti , Margherita Lucia De Bernardi , Bruno Dallapiccola , Antonio Novelli , Lucia Ulgheri , Carmelo Piscopo , Viola Alesi

SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.

Clinical genetics
Avec: Manuela Priolo , Valentina Palermo , Francesca Aiello , Andrea Ciolfi , Luca Pannone , Valentina Muto , Marialetizia Motta , Cecilia Mancini , Francesca Clementina Radio , Marcello Niceta , Chiara Leoni , Letizia Pintomalli , Rosalba Carrozzo , Giuseppe Rajola , Corrado Mammì , Giuseppe Zampino , Simone Martinelli , Bruno Dallapiccola , Pietro Pichierri , Marco Tartaglia

Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence.

Health policy (Amsterdam, Netherlands)
Avec: Mario Cesare Nurchis , Maria Teresa Riccardi , Francesca Clementina Radio , Giovanni Chillemi , Enrico Silvio Bertini , Marco Tartaglia , Americo Cicchetti , Bruno Dallapiccola , Gianfranco Damiani

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

European journal of human genetics : EJHG
Avec: Marcello Niceta , Andrea Ciolfi , Marco Ferilli , Lucia Pedace , Camilla Cappelletti , Claudia Nardini , Mathis Hildonen , Luigi Chiriatti , Evelina Miele , Maria Lisa Dentici , Maria Gnazzo , Claudia Cesario , Elisa Pisaneschi , Anwar Baban , Antonio Novelli , Silvia Maitz , Angelo Selicorni , Gabriella Maria Squeo , Giuseppe Merla , Bruno Dallapiccola , Zeynep Tumer , Maria Cristina Digilio , Manuela Priolo , Marco Tartaglia

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.

Clinical genetics
Avec: Marcello Niceta , Simone Pizzi , Francesca Inzana , Angela Peron , Somayeh Bakhtiari , Mathilde Nizon , Jonathan Levy , Cecilia Mancini , Benjamin Cogné , Francesca Clementina Radio , Emanuele Agolini , Dario Cocciadiferro , Antonio Novelli , Mustafa A Salih , Maria Paola Recalcati , Rosangela Arancio , Marianne Besnard , Anne-Claude Tabet , Michael C Kruer , Manuela Priolo , Bruno Dallapiccola , Marco Tartaglia

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Nature communications
Avec: Giulia Fasano , Valentina Muto , Francesca Clementina Radio , Martina Venditti , Niloufar Mosaddeghzadeh , Simona Coppola , Graziamaria Paradisi , Erika Zara , Farhad Bazgir , Alban Ziegler , Giovanni Chillemi , Lucia Bertuccini , Antonella Tinari , Annalisa Vetro , Francesca Pantaleoni , Simone Pizzi , Libenzio Adrian Conti , Stefania Petrini , Alessandro Bruselles , Ingrid Guarnetti Prandi , Cecilia Mancini , Balasubramanian Chandramouli , Magalie Barth , Céline Bris , Donatella Milani , Angelo Selicorni , Marina Macchiaiolo , Michaela V Gonfiantini , Andrea Bartuli , Riccardo Mariani , Cynthia J Curry , Renzo Guerrini , Anne Slavotinek , Maria Iascone , Bruno Dallapiccola , Mohammad Reza Ahmadian , Antonella Lauri , Marco Tartaglia

Williams-Beuren syndrome shapes the gut microbiota metaproteome.

Scientific reports
Avec: Valeria Marzano , Stefano Levi Mortera , Pamela Vernocchi , Federica Del Chierico , Chiara Marangelo , Valerio Guarrasi , Simone Gardini , Maria Lisa Dentici , Rossella Capolino , Maria Cristina Digilio , Maddalena Di Donato , Iolanda Spasari , Maria Teresa Abreu , Bruno Dallapiccola , Lorenza Putignani

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.

American journal of medical genetics. Part A
Avec: Anwar Baban , Nicole Olivini , Nicoletta Cantarutti , Federica Calì , Carmen Vitello , Diletta Valentini , Rachele Adorisio , Giulio Calcagni , Viola Alesi , Corrado Di Mambro , Alberto Villani , Bruno Dallapiccola , Maria Cristina Digilio , Bruno Marino , Adriano Carotti , Fabrizio Drago

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

American journal of human genetics
Avec: Marialetizia Motta , Luca Pannone , Francesca Pantaleoni , Gianfranco Bocchinfuso , Francesca Clementina Radio , Serena Cecchetti , Andrea Ciolfi , Martina Di Rocco , Mariet W Elting , Eva H Brilstra , Stefania Boni , Laura Mazzanti , Federica Tamburrino , Larry Walsh , Katelyn Payne , Alberto Fernández-Jaén , Mythily Ganapathi , Wendy K Chung , Dorothy K Grange , Ashita Dave-Wala , Shalini C Reshmi , Dennis W Bartholomew , Danielle Mouhlas , Giovanna Carpentieri , Alessandro Bruselles , Simone Pizzi , Emanuele Bellacchio , Francesca Piceci-Sparascio , Christina Lißewski , Julia Brinkmann , Ronald R Waclaw , Quinten Waisfisz , Koen van Gassen , Ingrid M Wentzensen , Michelle M Morrow , Sara Álvarez , Mónica Martínez-García , Alessandro De Luca , Luigi Memo , Giuseppe Zampino , Cesare Rossi , Marco Seri , Bruce D Gelb , Martin Zenker , Bruno Dallapiccola , Lorenzo Stella , Carlos E Prada , Simone Martinelli , Elisabetta Flex , Marco Tartaglia

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Antonio Novelli 28 collaborations
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Michael C Kruer 1 collaboration
Niloufar Mosaddeghzadeh 1 collaboration
Simona Coppola 1 collaboration
Graziamaria Paradisi 1 collaboration
Erika Zara 1 collaboration
Farhad Bazgir 1 collaboration
Alban Ziegler 1 collaboration
Lucia Bertuccini 1 collaboration
Antonella Tinari 1 collaboration
Annalisa Vetro 1 collaboration
Libenzio Adrian Conti 1 collaboration
Balasubramanian Chandramouli 1 collaboration
Magalie Barth 1 collaboration
Céline Bris 1 collaboration
Donatella Milani 1 collaboration
Riccardo Mariani 1 collaboration
Cynthia J Curry 1 collaboration
Renzo Guerrini 1 collaboration
Anne Slavotinek 1 collaboration
Mohammad Reza Ahmadian 1 collaboration
Stefano Levi Mortera 1 collaboration
Chiara Marangelo 1 collaboration
Valerio Guarrasi 1 collaboration
Carmen Vitello 1 collaboration
Diletta Valentini 1 collaboration
Corrado Di Mambro 1 collaboration
Alberto Villani 1 collaboration
Adriano Carotti 1 collaboration
Gianfranco Bocchinfuso 1 collaboration
Serena Cecchetti 1 collaboration
Martina Di Rocco 1 collaboration
Mariet W Elting 1 collaboration
Eva H Brilstra 1 collaboration
Stefania Boni 1 collaboration
Laura Mazzanti 1 collaboration
Federica Tamburrino 1 collaboration
Larry Walsh 1 collaboration
Katelyn Payne 1 collaboration
Alberto Fernández-Jaén 1 collaboration
Mythily Ganapathi 1 collaboration
Dorothy K Grange 1 collaboration
Ashita Dave-Wala 1 collaboration
Shalini C Reshmi 1 collaboration
Dennis W Bartholomew 1 collaboration
Danielle Mouhlas 1 collaboration
Giovanna Carpentieri 1 collaboration
Christina Lißewski 1 collaboration
Ronald R Waclaw 1 collaboration
Quinten Waisfisz 1 collaboration
Koen van Gassen 1 collaboration
Michelle M Morrow 1 collaboration
Sara Álvarez 1 collaboration
Mónica Martínez-García 1 collaboration
Lorenzo Stella 1 collaboration
Carlos E Prada 1 collaboration