Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Research output: Contribution to journalJournal article

  • Miguel de la Hoya
  • Omar Soukarieh
  • Irene López-perolio
  • Ana Vega
  • Logan C Walker
  • Yvette Van Ierland
  • Diana Baralle
  • Marta Santamariña
  • Vanessa Lattimore
  • Juul Wijnen
  • Philip Whiley
  • Ana Blanco
  • Michela Raponi
  • Jan Hauke
  • Barbara Wappenschmidt
  • Alexandra Becker
  • Thomas v O Hansen
  • Raquel Behar
  • Kconfab Investigators
  • Diether Niederacher
  • Norbert Arnold
  • Bernd Dworniczak
  • Doris Steinemann
  • Ulrike Faust
  • Wendy Rubinstein
  • Peter J Hulick
  • Claude Houdayer
  • Sandrine M. Caputo
  • Laurent Castera
  • Tina Pesaran
  • Elizabeth Chao
  • Carole Brewer
  • Melissa C Southey
  • Christi J van Asperen
  • Christian F Singer
  • Jan Sullivan
  • Nicola Poplawski
  • Phuong L Mai
  • Julian Peto
  • Nichola Johnson
  • Barbara Burwinkel
  • Harald M Surowy
  • Henrik Flyger
  • Annika Lindblom
  • Sara Margolin
  • Jenny Chang-Claude
  • Anja Rudolph
  • Paolo Radice
  • Laura Galastri
  • Janet E Olson
  • Emily Hallberg
  • Graham Giles
  • Roger L Milne
  • Irene L Andrulis
  • Gord Glendon
  • Per Hall
  • Kamila Czene
  • Fiona Blows
  • Mitul Shah
  • Qin Wang
  • Joe Dennis
  • Kyriaki Michailidou
  • Lesley McGuffog
  • Manjeet K Bolla
  • Antonis C Antoniou
  • Douglas F Easton
  • Fergus J Couch
  • Sean Tavtigian
  • Maaike P Vreeswijk
  • Michael Parsons
  • Huong D Meeks
  • Alexandra Martins
  • David E Goldgar
  • Amanda B Spurdle
Original languageEnglish
JournalHuman Molecular Genetics
Volume25
Issue number11
Pages (from-to)2256-2268
ISSN0964-6906
DOIs
Publication statusPublished - 2016

ID: 176831209