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

द्वारा 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.
में प्रकाशित Genet Med (2014)

Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

द्वारा 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.
प्रकाशित 2014

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...

द्वारा 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
प्रकाशित 2010

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

द्वारा 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
में प्रकाशित J Clin Immunol (2016)

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

द्वारा 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
में प्रकाशित J Clin Immunol (2016)

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

द्वारा 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
प्रकाशित 2009

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

द्वारा 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.
में प्रकाशित Nat Genet (2021)