Robert J. Gorlin: Personal Memory of a Friend and Mentor in Clinical Genetics by Bruno Dallapiccola, Rita Mingarelli

Get full text

In vivo Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale by Antonella Lauri, Giulia Fasano, Martina Venditti, Bruno Dallapiccola, Marco Tartaglia

Get full text

Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains by Giulia Fasano, Claudia Compagnucci, Bruno Dallapiccola, Marco Tartaglia, Antonella Lauri

Get full text

Sequence-specific modification of a β-thalassemia locus by small DNA fragments in human erythroid progenitor cells by Alessia Colosimo, Valentina Guida, Ivana Antonucci, Tiziana Bonfini, Liborio Stuppia, Bruno Dallapiccola

Get full text

The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review by Marialuigia Spinelli, Carmine Sica, Bruno Dallapiccola, Antonio Novelli, Letizia Di Meglio, Pasquale Martinelli

Get full text

Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes by M. Cristina Digilio, Paolo Versacci, Francesca Lepri, Anwar Baban, Bruno Dallapiccola, Bruno Marino

Get full text

Cost-effectiveness of exome sequencing: an Italian pilot study on undiagnosed patients by F. Clementina Radio, Massimiliano Ruzzeddu, Andrea Bartuli, Antonio Novelli, Marco Tartaglia, Bruno Dallapiccola

Get full text

RAS Signaling in Colorectal Carcinomas through Alteration of RAS, RAF, NF1, and/or RASSF1A by Terje Ahlquist, Irene Bottillo, Stine A. Danielsen, Gunn I. Meling, Torleiv O. Rognum, Guro E. Lind, Bruno Dallapiccola, Ragnhild A. Lothe

Get full text

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision by Anwar Baban, Marianna Cicenia, Monia Magliozzi, Maria Gnazzo, Nicoletta Cantarutti, Massimo Stefano Silvetti, Rachele Adorisio, Bruno Dallapiccola, Enrico Bertini, Antonio Novelli, Fabrizio Drago

Get full text

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment by Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, Francesca Clementina Radio, Giovanni Chillemi, Enrico Silvio Bertini, Jacopo Garlasco, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani

Get full text

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign by Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani, Antonio Novelli

Get full text

Gut Microbiota Profiling and Gut–Brain Crosstalk in Children Affected by Pediatric Acute-Onset Neuropsychiatric Syndrome and Pediatric Autoimmune Neuropsychiatric Disorders Associa... by Andrea Quagliariello, Federica Del Chierico, Alessandra Russo, Sofia Reddel, Giulia Conte, Loris R. Lopetuso, Gianluca Ianiro, Bruno Dallapiccola, Francesco Cardona, Antonio Gasbarrini, Lorenza Putignani, Lorenza Putignani

Get full text

"Omic" investigations of protozoa and worms for a deeper understanding of the human gut "parasitome". by Valeria Marzano, Livia Mancinelli, Giorgia Bracaglia, Federica Del Chierico, Pamela Vernocchi, Francesco Di Girolamo, Stefano Garrone, Hyppolite Tchidjou Kuekou, Patrizia D'Argenio, Bruno Dallapiccola, Andrea Urbani, Lorenza Putignani

Get full text

Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4 by Salvatore Zaffina, Eva Piano Mortari, Reparata Rosa Di Prinzio, Marco Cappa, Antonio Novelli, Emanuele Agolini, Massimiliano Raponi, Bruno Dallapiccola, Franco Locatelli, Franco Locatelli, Carlo Federico Perno, Rita Carsetti, Rita Carsetti

Get full text

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

Get full text

Monitoring perinatal gut microbiota in mouse models by mass spectrometry approaches: parental genetic background and breastfeeding effects by Stefano Levi Mortera, Federica Del Chierico, Pamela Vernocchi, Maria Manuela Rosado, Agnese Cavola, Marco Chierici, Luisa Pieroni, Andrea Urbani, Andrea Urbani, Rita Carsetti, Isabella Lante, Bruno Dallapiccola, Lorenza Putignani, Lorenza Putignani

Get full text

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

Get full text

Deep Intronic LINE-1 Insertions in <i>NF1</i>: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements by Viola Alesi, Silvia Genovese, Francesca Romana Lepri, Giorgia Catino, Sara Loddo, Valeria Orlando, Silvia Di Tommaso, Alessandra Morgia, Licia Martucci, Maddalena Di Donato, Maria Cristina Digilio, Bruno Dallapiccola, Antonio Novelli, Rossella Capolino

Get full text

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

Get full text

Gut Microbiota Markers in Obese Adolescent and Adult Patients: Age-Dependent Differential Patterns by Federica Del Chierico, Francesca Abbatini, Alessandra Russo, Andrea Quagliariello, Sofia Reddel, Danila Capoccia, Romina Caccamo, Stefano Ginanni Corradini, Valerio Nobili, Valerio Nobili, Francesco De Peppo, Bruno Dallapiccola, Frida Leonetti, Gianfranco Silecchia, Lorenza Putignani, Lorenza Putignani

Get full text