Molecular Biology & Genetics
Listando 15 trabajos del autor/autora 38
Lista de trabajos en el área Molecular Biology & Genetics
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436
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Review
Leveraging European infrastructures to access 1 million human genomes by 2022
Saunders, Gary; Baudis, Michael; Becker, Regina; Beltran, Sergi; Beroud, Christophe; Birney, Ewan; Brooksbank, Cath; Brunak, Soren; Van den Bulcke, Marc; Drysdale, Rachel; Capella-Gutierrez, Salvador; Flicek, Paul; Florindi, Francesco; Goodhand, Peter; Gut
NATURE REVIEWS GENETICS
1471-0056 (2019)
DOI /
10.1038/s41576-019-0156-9
Green accepted
Mentions
42
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0
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14
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0
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Editorial Material
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schuele, Rebecca; Synofzik, Matthis; Topf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; 't Hoen, Peter A. C.; Vitobello, Antonio; Schulze
EUROPEAN JOURNAL OF HUMAN GENETICS
1018-4813 (2021)
DOI /
10.1038/s41431-021-00859-0
Green published, Hybrid
Mentions
11
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8
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Article
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Matalonga, Leslie; Hernandez-Ferrer, Carles; Piscia, Davide; Schuele, Rebecca; Synofzik, Matthis; Topf, Ana; Vissers, Lisenka E. L. M.; de Voer, Richarda; Tonda, Raul; Laurie, Steven; Fernandez-Callejo, Marcos; Pico, Daniel; Garcia-Linares, Carles; Papakon
EUROPEAN JOURNAL OF HUMAN GENETICS
1018-4813 (2021)
DOI /
10.1038/s41431-021-00852-7
Green published, Hybrid, Green accepted
Mentions
17
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1
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A call for global action for rare diseases in Africa
Baynam, Gareth S.; Groft, Stephen; van der Westhuizen, Francois H.; Gassman, Safiyya D.; du Plessis, Kelly; Coles, Emily P.; Selebatso, Eda; Selebatso, Moses; Gaobinelwe, Boikobo; Selebatso, Tebogo; Joel, Dipesalema; Llera, Virginia A.; Vorster, Barend C.;
NATURE GENETICS
1061-4036 (2019)
DOI /
10.1038/s41588-019-0552-2
Mentions
11
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2
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Editorial Material
Solving unsolved rare neurological diseases-a Solve-RD viewpoint
Schuele, Rebecca; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; van de Warrenburg, Bart; Schoels, Ludger; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven; Matalonga, Leslie; Graessner, Holm; Synof
EUROPEAN JOURNAL OF HUMAN GENETICS
1018-4813 (2021)
DOI /
10.1038/s41431-021-00901-1
Green submitted, Green accepted, Green published, Hybrid
Mentions
24
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Article
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder
Thompson, Rachel; Ntalis, Anastasios Papakonstantinou; Beltran, Sergi; Topf, Ana; Estephan, Eduardo de Paula; Polavarapu, Kiran; Hoen, Peter A. C't; Missier, Paolo; Lochmuller, Hanns
HUMAN MUTATION
1059-7794 (2019)
DOI /
10.1002/humu.23792
Mentions
34
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Article
Autosomal recessive variants in TUBGCP2 alter the gamma-tubulin ring complex leading to neurodevelopmental disease
Gungor, Serdal; Oktay, Yavuz; Hiz, Semra; Aranguren-Ibanez, Alvaro; Kalafatcilar, Ipek; Yaramis, Ahmet; Karaca, Ezgi; Yis, Uluc; Sonmezler, Ece; Ekinci, Burcu; Aslan, Mahmut; Yilmaz, Elmasnur; Ozgor, Bilge; Balaraju, Sunitha; Szabo, Nora; Laurie, Steven; B
ISCIENCE
(2021)
DOI /
10.1016/j.isci.2020.101948
Gold, Green published
Mentions
6
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Article
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes
Castro-Sanchez, Sheila; Alvarez-Satta, Maria; Tohamy, Mohamed A.; Beltran, Sergi; Derdak, Sophia; Valverde, Diana
PLOS ONE
1932-6203 (2017)
DOI /
10.1371/journal.pone.0183081
Gold DOAJ, Green published
Mentions
18
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0
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0
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Article
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Rheinard, Carola; Gomez-Andres, David; Desaphy, Jean-Fran
ORPHANET JOURNAL OF RARE DISEASES
(2020)
DOI /
10.1186/s13023-020-01493-7
Gold DOAJ, Green published
Mentions
14
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0
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0
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Article
Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data
Maceda, Iago; Alvarez, Miguel Martin; Athanasiadis, Georgios; Tonda, Raul; Camps, Jordi; Beltran, Sergi; Camps, Agusti; Fabrega, Jordi; Felisart, Josefina; Grane, Joan; Remon, Jose Luis; Serra, Jordi; Moral, Pedro; Lao, Oscar
EUROPEAN JOURNAL OF HUMAN GENETICS
1018-4813 (2021)
DOI /
10.1038/s41431-021-00875-0
Green published, Hybrid
Mentions
11
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0
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0
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Editorial Material
Solving the unsolved rare diseases in Europe
Graessner, Holm; Zurek, Birte; Hoischen, Alexander; Beltran, Sergi
EUROPEAN JOURNAL OF HUMAN GENETICS
1018-4813 (2021)
DOI /
10.1038/s41431-021-00924-8
Hybrid
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7
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0
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Article
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage
Musacchia, Francesco; Karali, Marianthi; Torella, Annalaura; Laurie, Steve; Policastro, Valeria; Pizzo, Mariateresa; Beltran, Sergi; Casari, Giorgio; Nigro, Vincenzo; Banfi, Sandro
GENES
(2021)
DOI /
10.3390/genes12121979
Mentions
7
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0
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0
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0
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Article
y COL4A1-related autosomal recessive encephalopathy in 2 Turkish children
Yaramis, Ahmet; Lochmueller, Hanns; Topf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc; Gungor, Serdal; Polat, Ayse Ipek; Edem, Pinar; Beltran, Sergi; Laurie, Steven; Yaramis, Aysenur; Horvath, Rita; Oktay, Yavuz
NEUROLOGY-GENETICS
2376-7839 (2020)
DOI /
10.1212/nxg.0000000000000392
Gold DOAJ, Green published
Mentions
2
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0
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Article
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer
Feliubadalo, Lidia; Tonda, Raul; Gausachs, Mireia; Trotta, Jean-Remi; Castellanos, Elisabeth; Lopez-Doriga, Adriana; Teule, Alex; Tornero, Eva; del Valle, Jesus; Gel, Bernat; Gut, Marta; Pineda, Marta; Gonzalez, Sara; Menendez, Mireia; Navarro, Matilde; Ca
SCIENTIFIC REPORTS
2045-2322 (2017)
DOI /
10.1038/srep37984
Gold DOAJ, Green published
Mentions
1
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0
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Article
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
Owen, David; Topf, Ana; Preethish-Kumar, Veeramani; Lorenzoni, Paulo Jose; Vroling, Bas; Scola, Rosana Herminia; Dias-Tosta, Elza; Geraldo, Argemiro; Polavarapu, Kiran; Nashi, Saraswati; Cox, Daniel; Evangelista, Teresinha; Dawson, John; Thompson, Rachel;
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
1552-4825 (2018)
DOI /
10.1002/ajmg.a.38707
