Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

por Griffin, Helen R., Pyle, Angela, Blakely, Emma L., Alston, Charlotte L., Duff, Jennifer, Hudson, Gavin, Horvath, Rita, Wilson, Ian J., Santibanez-Koref, Mauro, Taylor, Robert W., Chinnery, Patrick F.
Publicado 2014

Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

por Töpf, Ana, Griffin, Helen R., Glen, Elise, Soemedi, Rachel, Brown, Danielle L., Hall, Darroch, Rahman, Thahira J., Eloranta, Jyrki J., Jüngst, Christoph, Stuart, A. Graham, O'Sullivan, John, Keavney, Bernard D., Goodship, Judith A.
Publicado 2014

Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease

por Dirvanskyte, Paulina, Gurram, Bhaskar, Bolton, Chrissy, Warner, Neil, Jones, Kelsey D J, Griffin, Helen R, Park, Jason Y, Keller, Klaus-Michael, Gilmour, Kimberly C, Hambleton, Sophie, Muise, Aleixo M, Wysocki, Christian, Uhlig, Holm H
Publicado 2022

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for...

por Griffin, Helen R, Töpf, Ana, Glen, Elise, Zweier, Christiane, Stuart, A Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John, O'Sullivan, John, Rauch, Anita, Scambler, Peter, Burn, John, Cordell, Heather J, Keavney, Bernard, Goodship, Judith A
Publicado 2010

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

por Dang, Tarana Singh, Willet, Joseph DP, Griffin, Helen R, Morgan, Neil V, O’Boyle, Graeme, Arkwright, Peter D, Hughes, Stephen M, Abinun, Mario, Tee, Louise J, Barge, Dawn, Engelhardt, Karin R, Jackson, Michael, Cant, Andrew J, Maher, Eamonn R, Koref, Mauro Santibanez, Reynard, Louise N, Ali, Simi, Hambleton, Sophie
Publicado 2016

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

por Dang, Tarana Singh, Willet, Joseph D. P., Griffin, Helen R., Morgan, Neil V., O’Boyle, Graeme, Arkwright, Peter D., Hughes, Stephen M., Abinun, Mario, Tee, Louise J., Barge, Dawn, Engelhardt, Karin R., Jackson, Michael, Cant, Andrew J., Maher, Eamonn R., Koref, Mauro Santibanez, Reynard, Louise N., Ali, Simi, Hambleton, Sophie
Publicado 2016

Genetic Variation in VEGF Does Not Contribute Significantly to the Risk of Congenital Cardiovascular Malformation

por Griffin, Helen R., Hall, Darroch H., Topf, Ana, Eden, James, Stuart, A. Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John E., O'Sullivan, John, Babu-Narayan, Sonya V., Gatzoulis, Michael A., Bu'Lock, Frances A., Bhattacharya, Shoumo, Bentham, Jamie, Farrall, Martin, Granados Riveron, Javier, Brook, J. David, Burn, John, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard
Publicado 2009

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

por Wang, Lin, Aschenbrenner, Dominik, Zeng, Zhiyang, Cao, Xiya, Mayr, Daniel, Mehta, Meera, Capitani, Melania, Warner, Neil, Pan, Jie, Wang, Liren, Li, Qi, Zuo, Tao, Cohen-Kedar, Sarit, Lu, Jiawei, Ardy, Rico Chandra, Mulder, Daniel J., Dissanayake, Dilan, Peng, Kaiyue, Huang, Zhiheng, Li, Xiaoqin, Wang, Yuesheng, Wang, Xiaobing, Li, Shuchao, Bullers, Samuel, Gammage, Anís N., Warnatz, Klaus, Schiefer, Ana-Iris, Krivan, Gergely, Goda, Vera, Kahr, Walter H.A., Lemaire, Mathieu, Lu, Chien-Yi, Siddiqui, Iram, Surette, Michael G., Kotlarz, Daniel, Engelhardt, Karin R., Griffin, Helen R., Rottapel, Robert, Decaluwe, Hélène, Laxer, Ronald M., Proietti, Michele, Hambleton, Sophie, Elcombe, Suzanne, Guo, Cong-Hui, Grimbacher, Bodo, Dotan, Iris, Ng, Siew C., Freeman, Spencer A., Snapper, Scott B., Klein, Christoph, Boztug, Kaan, Huang, Ying, Li, Dali, Uhlig, Holm H., Muise, Aleixo M.
Publicado 2021