18 Papers
7 Citations
Pedro Louro is an academic researcher from Instituto Português de Oncologia Francisco Gentil. The author has contributed to research in topics: Medicine & Cancer. The author has an hindex of 5, co-authored 11 publications. Previous affiliations of Pedro Louro include University of Beira Interior.
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Papers
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Uirá Souto Melo,Uirá Souto Melo,Robert Schöpflin,Robert Schöpflin,Rocio Acuna-Hidalgo,Rocio Acuna-Hidalgo,Martin A. Mensah,Björn Fischer-Zirnsak,Björn Fischer-Zirnsak,Manuel Holtgrewe,Marius-Konstantin Klever,Marius-Konstantin Klever,Seval Türkmen,Verena Heinrich,Ilina D. Pluym,Eunice Matoso,Sérgio B. Sousa,Pedro Louro,Pedro Louro,Wiebke Hülsemann,Monika Cohen,Andreas Dufke,Anna Latos-Bielenska,Martin Vingron,Vera M. Kalscheuer,Fabiola Quintero-Rivera,Malte Spielmann,Malte Spielmann,Stefan Mundlos,Stefan Mundlos +29 more
TL;DR: High-throughput chromosome conformation capture (Hi-C) generated from cultured cells of nine individuals with developmental disorders (DDs) shows that Hi-C is a sensible method for the detection of complex SVs in a clinical setting and helps interpret the possible pathogenic effects of the SV's in individuals with DDs.
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Charlotte W. Ockeloen,Marjolein H. Willemsen,Sonja A. de Munnik,Bregje W. M. van Bon,Bregje W. M. van Bon,Nicole de Leeuw,Aad Verrips,Sarina G. Kant,Elizabeth A. Jones,Han G. Brunner,Rosa L. E. van Loon,Eric Smeets,Mieke M. van Haelst,Gijs van Haaften,Ann Nordgren,Helena Malmgren,Giedre Grigelioniene,Sascha Vermeer,Pedro Louro,Lina Ramos,Thomas J.J. Maal,Celeste C. van Heumen,Helger G. Yntema,Carine Carels,Tjitske Kleefstra +24 more
TL;DR: The largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families, is presented, with consistent facial dysmorphisms comprising a bulbous nasal tip, upturned nose with a broad base and a round or triangular face.
Further delineation of the KBG syndrome caused by ANKRD11 aberrations.
Charlotte W. Ockeloen,Marjolein H. Willemsen,Sonja A. de Munnik,Bregje W.M. van Bon,Nicole de Leeuw,Aad Verrips,Sarina G. Kant,Elizabeth A. Jones,Han G. Brunner,Rosa L. E. van Loon,Eric Smeets,Mieke M. van Haelst,Gijs van Haaften,Ann Nordgren,Helena Malmgren,Giedre Grigelioniene,Sascha Vermeer,Pedro Louro,Lina Ramos,Thomas J.J. Maal,Celeste C. van Heumen,Helger G. Yntema,Carine Carels,Tjitske Kleefstra +23 more
TL;DR: The coordinates and size of the microdeletion in patient 13 were not mentioned correctly throughout the article and the authors would like to apologise for their oversight.
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome
Zain Awamleh,Sanaa Choufani,Cheryl Cytrynbaum,Fowzan S. Alkuraya,Stephen W. Scherer,Sofia Fernandes,Catarina S. Rosas,Pedro Louro,Patricia Dias,Mariana Simões Neves,Sérgio B. Sousa,Rosanna Weksberg +11 more
TL;DR: In this article , the pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies.
A Collective Intelligence Platform to Support Older Cancer Survivors: Towards the Definition of LifeChamps System and Big Data Reference Architecture
Zoe Valero-Ramon,Pedro Louro,Luis Irio,Ilias Dimitriadis,Marinos Poiitis,Theodoros Toliopoulos,Paraskevas Lagakis,Georgios Petridis,Nikolaos Papachristou,Francisco J Núñez-Benjumea,Santiago Hors-Fraile,Athena Vakali,Anastasios Gounaris,Dany Shapiro,Juan Carlos Naranjo,Sofia Levva,Antonis Billis,Vicente Traver,Panagiotis D. Bamidis +18 more
TL;DR: This work presents the LifeChamps solution built on top of cutting-edge Big Data architecture and HPC infrastructure concepts, supporting the Big Data Value Reference Model and answering the system requirements from high to low level and from logical to physical perspective.
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