High Sensitivity for Monogenic Causal Diagnoses in Autism, Including De Novo Variants Representing Novel Disorders, with Trio Whole Genome Sequencing and Data Reanalysis in a Non-Academic Center (P13-9.002)

Autor: Omri Bar, Laurie Ebenau, Mark Mintz, Richard Boles

Publikováno v: Thursday, April 27.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::29c97a66a7f9d3e0d224b86f5cb3ead8
https://doi.org/10.1212/wnl.0000000000202166

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

Autor: De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa.

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩

BackgroundPathogenic variants of GNB5 encoding the β5 subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c9ebc9c3b81e32161c102409b0091df
https://doi.org/10.1136/jmedgenet-2020-107015

A Bivariate Mixed Model Approach in Characterizing the Evolution of Longitudinal Body Mass Index and Quality of Life Processes in Adolescents with Severe Obesity Following Bariatric Surgery: A 5-year follow-up of the TeenLABS cohort

Autor: Jane, Khoury, Todd M, Jenkins, Shelley, Ehrlich, Richard, Boles, Marc P, Michalsky, Thomas H, Inge, Rhonda D, Szczesniak

Publikováno v: Ann Biom Biostat

Obesity is identified as a major global health problem. Along with measuring body mass index (BMI), the most common metric for defining weight status, health related quality of life (HRQol) has been accepted as a routine method to evaluate how body w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4d270d4e2add248a3865ebb429c8488d
https://europepmc.org/articles/PMC8813162/

Genes that affect synaptic excitability and transmission identified by rare variant analyses in episodic ataxias

Autor: Stephanie Efthymiou (1), Vincenzo Salpietro (1), Marisol Sampedro-Castañeda (1), Andreea Manole (1), Thomas Bourinaris (1, Emer O'Connor (1), Liana Veneziano (3), Elide Mantuano (3), Marina Frontali (3), Paola Giunti (1), Richard Boles (4, 5, Elena Dominguez Garrido (7), Conceicao Bettencourt (1), Juan A. Botia (1), Mina Ryten (1), Jana Vandrovcova (1), Samuel McCall (8), Robyn W. Labrum (8), Sameer Zuberi (9), Alfons Macaya (10), Dimitri M. Kullmann (11), Roope Manniko (1), Henry Houlden (1), Michael G. Hanna (1, 12), SYNAPS Study Group

Publikováno v: IARC 2017-International Ataxia Research Conference, Pisa, Italy, 27-30/09/2017
info:cnr-pdr/source/autori:Stephanie Efthymiou (1), Vincenzo Salpietro (1), Marisol Sampedro-Castañeda (1), Andreea Manole (1), Thomas Bourinaris (1, 2), Emer O'Connor (1), Liana Veneziano (3), Elide Mantuano (3), Marina Frontali (3), Paola Giunti (1), Richard Boles (4,5,6), Elena Dominguez Garrido (7), Conceicao Bettencourt (1), Juan A. Botia (1), Mina Ryten (1), Jana Vandrovcova (1), Samuel McCall (8), Robyn W. Labrum (8), Sameer Zuberi (9), Alfons Macaya (10), Dimitri M. Kullmann (11), Roope Manniko (1), Henry Houlden (1), Michael G. Hanna (1,12), SYNAPS Study Group/congresso_nome:IARC 2017-International Ataxia Research Conference/congresso_luogo:Pisa, Italy/congresso_data:27-30%2F09%2F2017/anno:2017/pagina_da:/pagina_a:/intervallo_pagine

The episodic ataxias are a heterogeneous group of paroxysmal neurological disorders characterized by intermittent attacks of unsteadiness and incoordination, often associated with additional neurological features including migraine or hemiplegic migr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::c99875fc1713a59758dd721fa82083c5
https://publications.cnr.it/doc/396501

Sudden Death Beyond Sids

Autor: Richard Boles, Carl Boesel, Piero Rinaldo

Publikováno v: Fetal and Pediatric Pathology. 16:691-693

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f46c577fb983f7eb4eac4745c2ef8311
https://doi.org/10.3109/15513819609168705