Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Alice Hulbert"'
Autor:
Nadia Akawi, James Stephenson, Jeffrey C. Barrett, Rebecca E. McIntyre, Hilary C. Martin, Sebastian S. Gerety, Matthew E. Hurles, Carla P. Jones, Diana S. Johnson, John Dean, Sarju G. Mehta, Elena Prigmore, Meena Balasubramanian, Rachel Horton, Michael Wright, Giuseppe Gallone, Mari Niemi, Miranda Splitt, Peter D. Turnpenny, Mark Sanderson, Dhavendra Kumar, Caroline F. Wright, Wendy D Jones, Pradeep C. Vasudevan, Andrew R. Bassett, Juliet Handsaker, Katie Johnson, Joanna Kaplanis, Alice Hulbert, Michaela Bruntraeger, Elizabeth J. Radford, Jenny Morton, Michael J. Parker, Helen V. Firth, Gabriela Sánchez-Andrade, Patrick J. Short, David R. FitzPatrick, Jeremy F. McRae, Sally Ann Lynch
Publikováno v:
2018, ' Quantifying the contribution of recessive coding variation to developmental disorders ', Science . https://doi.org/10.1126/science.aar6731
Genetic architecture of developmental disorders The genetics of developmental disorders (DDs) is complex. Martin et al. wanted to determine the degree of recessive inheritance of DDs in protein-coding genes. They examined the exomes of more than 6000
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d63e07bf84b0aa989d52ad7f110ac3b
https://doi.org/10.1126/science.aar6731
https://doi.org/10.1126/science.aar6731
Autor:
Alice Hulbert, Joanna Kennedy, Astrid Weber, Ddd Study, Miranda Splitt, Ruth Newbury-Ecob, Ruth Richardson
Publikováno v:
European Journal of Human Genetics. 26:1306-1311
Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in the Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) gene. Variants in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a99621f6f37eff9929d235f6068cdb5e
https://doi.org/10.1038/s41431-018-0199-y
https://doi.org/10.1038/s41431-018-0199-y
Autor:
Sally Ann Lynch, Pradeep C. Vasudevan, Wendy D Jones, Hilary C. Martin, John Dean, James Stephenson, Sarju G. Mehta, Elena Prigmore, Katie Johnson, Michael Parker, Patrick J. Short, Jenny Morton, Mari Niemi, Miranda Splitt, Matthew E. Hurles, Rachel Horton, Joanna Kaplanis, Michael Wright, David R. FitzPatrick, Jeremy F. McRae, Elizabeth J. Radford, Diana Johnson, Jeffrey C. Barrett, Alice Hulbert, Caroline F. Wright, Juliet Handsaker, Meena Balasubramanian, Peter D. Turnpenny, Giuseppe Gallone, Dhavendra Kumar, Nadia Akawi, Helen V. Firth
Large exome-sequencing datasets offer an unprecedented opportunity to understand the genetic architecture of rare diseases, informing clinical genetics counseling and optimal study designs for disease gene identification. We analyzed 7,448 exome-sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d08ac808afee38fe3dc6d6647af097d
Autor:
Danielle Lisa Shaw, Alice Hulbert, Anna Olsson-Brown, Lynn Greenhalgh, Rosemary Lord, Antony P. Martin, Marie McKay, Maria Baou
Publikováno v:
Journal of Clinical Oncology. 36:e18526-e18526
e18526Background: The prevalence of germline BRCA mutations (BRCAm) in patients with high grade ovarian cancer (HGOC) is approximately 18%. In the era of therapeutic PARP inhibition, identifying BR...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e81aa0a82174a767a6598dbc27970964
https://doi.org/10.1200/jco.2018.36.15_suppl.e18526
https://doi.org/10.1200/jco.2018.36.15_suppl.e18526