ProfileOfResearchers

Identified 2

1

TITLE: EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
AUTHORS: Lenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Genomics England Res Consortium, Graeme C.; Black, Graeme C.; Ellingford, Jamie M.;
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS

INDEXED IN:

Scopus

WOS

2

TITLE: Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A Full Text
AUTHORS: Dalia Kasperaviciute; Claudia B Catarino; Mar Matarin; Costin Leu; Jan Novy; Anna Tostevin; Barbara Leal; Ellen V S Hessel; Kerstin Hallmann; Michael S Hildebrand; Hans Henrik M Dahl; Mina Ryten; Daniah Trabzuni; Adaikalavan Ramasamy; Saud Alhusaini; Colin P Doherty; Thomas Dorn; Joerg Hansen; Guenter Kraemer; Bernhard J Steinhoff; Dominik Zumsteg; Susan Duncan; Reetta K Kaelviaeinen; Kai J Eriksson; Anne Mari Kantanen; Massimo Pandolfo; Ursula Gruber Sedlmayr; Kurt Schlachter; Eva M Reinthaler; Elisabeth Stogmann; Fritz Zimprich; Emilie Theatre; Colin Smith; Terence J O'Brien; Meng M Tan; Slave Petrovski; Angela Robbiano; Roberta Paravidino; Federico Zara; Pasquale Striano; Michael R Sperling; Russell J Buono; Hakon Hakonarson; Joao Chaves; Paulo P Costa ; Berta M Silva ; Antonio M da Silva ; Pierre N E de Graan; Bobby P C Koeleman; Albert Becker; Susanne Schoch; Marec von Lehe; Philipp S Reif; Felix Rosenow; Felicitas Becker; Yvonne Weber; Holger Lerche; Karl Roessler; Michael Buchfelder; Hajo M Hamer; Katja Kobow; Roland Coras; Ingmar Blumcke; Ingrid E Scheffer; Samuel F Berkovic; Michael E Weale; Norman Delanty; Chantal Depondt; Gianpiero L Cavalleri; Wolfram S Kunz; Sanjay M Sisodiya; ...More
PUBLISHED: 2013, SOURCE: BRAIN, VOLUME: 136, ISSUE: 10

INDEXED IN:

Scopus

WOS

© 2024 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service