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827 results on '"Kilby, Mark D."'

7. Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens

Author

Karamatic Crew, Vanja, Tilley, Louise A., Satchwell, Timothy J., AlSubhi, Samah A., Jones, Benjamin, Spring, Frances A., Walser, Piers J., Martins Freire, Catarina, Murciano, Nicoletta, Rotordam, Maria Giustina, Woestmann, Svenja J., Hamed, Marwa, Alradwan, Reem, AlKhrousey, Mouza, Skidmore, Ian, Lewis, Sarah, Hussain, Shimon, Jackson, Jane, Latham, Tom, Kilby, Mark D., Lester, William, Becker, Nadine, Rapedius, Markus, Toye, Ashley M., and Thornton, Nicole M.

Published
2023
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12. Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Author

Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, and Ostergaard, Pia

Published
2021
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14. Monogenic conditions and central nervous system anomalies:A prospective study, systematic review and meta-analysis

Author

Blayney, Gillian V., Laffan, Eoghan, Jacob, Preethi A., Baptiste, Caitlin D., Gabriel, Heinz, Sparks, Teresa N., Yaron, Yuval, Norton, Mary E., Diderich, Karin, Wang, Yiming, Chong, Karen, Chitayat, David, Saini, Neelam, Aggarwal, Shagun, Pauta, Montse, Borrell, Antoni, Gilmore, Kelly, Chandler, Natalie J., Allen, Stephanie, Vora, Neeta, Noor, Abdul, Monaghan, Caitriona, Kilby, Mark D., Wapner, Ronald J., Chitty, Lyn S., Mone, Fionnuala, Blayney, Gillian V., Laffan, Eoghan, Jacob, Preethi A., Baptiste, Caitlin D., Gabriel, Heinz, Sparks, Teresa N., Yaron, Yuval, Norton, Mary E., Diderich, Karin, Wang, Yiming, Chong, Karen, Chitayat, David, Saini, Neelam, Aggarwal, Shagun, Pauta, Montse, Borrell, Antoni, Gilmore, Kelly, Chandler, Natalie J., Allen, Stephanie, Vora, Neeta, Noor, Abdul, Monaghan, Caitriona, Kilby, Mark D., Wapner, Ronald J., Chitty, Lyn S., and Mone, Fionnuala

Abstract

Objectives: Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities.Methods: Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random-effects model. Results: Thirty studies were included (n = 1583 cases). The incremental yield with pES for any CNS anomaly was 32% [95%CI 27%–36%; I2 = 72%]. Subgroup analysis revealed apparent incremental yields in; (a) isolated CNS anomalies; 27% [95%CI 19%–34%; I2 = 74%]; (b) single CNS anomaly; 16% [95% CI 10%–23%; I2 = 41%]; (c) more than one CNS anomaly; 31% [95% Cl 21%–40%; I2 = 56%]; and (d) the anatomical subtype with the most optimal yield was Type 1 malformation of cortical development, related to abnormal cell proliferation or apoptosis, incorporating microcephalies, megalencephalies and dysplasia; 40% (22%–57%; I2 = 68%). The commonest syndromes in isolated cases were Lissencephaly 3 and X-linked hydrocephalus. Conclusions: Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex.

Published
2024

18. Impaired Sphingosine-1-Phosphate Synthesis Induces Preeclampsia by Deactivating Trophoblastic YAP (Yes-Associated Protein) Through S1PR2 (Sphingosine-1-Phosphate Receptor-2)-Induced Actin Polymerizations

Author

Liao, Jiujiang, Zheng, Yangxi, Hu, Mingyu, Xu, Ping, Lin, Li, Liu, Xiyao, Wu, Yue, Huang, Biao, Ye, Xuan, Li, Sisi, Duan, Ran, Fu, Huijia, Huang, Jiayu, Wen, Li, Fu, Yong, Kilby, Mark D., Kenny, Louise C., Baker, Philip N., Qi, Hongbo, and Tong, Chao

Published
2021
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19. Twins

Author

Kilby, Mark D., Thomson, Peter J., Jha, Swati, editor, and Ferriman, Emma, editor

Published
2018
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23. Impaired Sphingosine-1-Phosphate Synthesis Induces Preeclampsia by Deactivating Trophoblastic YAP (Yes-Associated Protein) Through S1PR2 (Sphingosine-1-Phosphate Receptor-2)-Induced Actin Polymerizations

Author

Liao, Jiujiang, Zheng, Yangxi, Hu, Mingyu, Xu, Ping, Lin, Li, Liu, Xiyao, Wu, Yue, Huang, Biao, Ye, Xuan, Li, Sisi, Duan, Ran, Fu, Huijia, Huang, Jiayu, Wen, Li, Fu, Yong, Kilby, Mark D., Kenny, Louise C., Baker, Philip N., Qi, Hongbo, and Tong, Chao

Published
2022
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26. Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis

Author

Blayney, Gillian V., primary, Laffan, Eoghan, additional, Jacob, Preethi A., additional, Baptiste, Caitlin D., additional, Gabriel, Heinz, additional, Sparks, Teresa N., additional, Yaron, Yuval, additional, Norton, Mary E., additional, Diderich, Karin, additional, Wang, Yiming, additional, Chong, Karen, additional, Chitayat, David, additional, Saini, Neelam, additional, Aggarwal, Shagun, additional, Pauta, Montse, additional, Borrell, Antoni, additional, Gilmore, Kelly, additional, Chandler, Natalie J., additional, Allen, Stephanie, additional, Vora, Neeta, additional, Noor, Abdul, additional, Monaghan, Caitriona, additional, Kilby, Mark D., additional, Wapner, Ronald J., additional, Chitty, Lyn S., additional, and Mone, Fionnuala, additional

Published
2023
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29. Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Author

Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, and Ostergaard, Pia

Published
2021
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30. Endoplasmic reticulum stress impairs trophoblast syncytialization through upregulation of HtrA4 and causes early-onset preeclampsia

Author

Yuan, Xi, primary, Liu, Xiyao, additional, Zhu, Fangyu, additional, Huang, Biao, additional, Lin, Li, additional, Huang, Jiayu, additional, Wen, Li, additional, Kilby, Mark D., additional, Baker, Philip N., additional, Fu, Yong, additional, Wu, Weiwei, additional, Qi, Hongbo, additional, Tang, Jing, additional, and Tong, Chao, additional

Published
2023
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37. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis.

Author

Sonner, Sarah, Reilly, Kelly, Woolf, Adrian S., Chandler, Natalie, Kilby, Mark D., Maher, Eamonn R., Flanagan, Cheryl, McKnight, Amy Jayne, and Mone, Fionnuala

Abstract

Objective: Determine the incremental yield of prenatal exome sequencing (PES) over chromosome microarray (CMA) and/or karyotype for urinary tract malformations (UTMs). Method: A prospective cohort study encompassing data from the English Genomic Medicine Service North Thames Laboratory Hub for fetuses with bilateral echogenic kidneys (BEKs) was combined with data from a systematic review. MEDLINE, EMBASE, Web of Science, MedRxiv and GreyLit were searched from 01/2010‐02/2023 for studies reporting on the yield of PES over CMA or karyotype in fetuses with UTMs. Pooled incremental yield was determined using a random effects model. PROSPERO CRD42023364544. Results: Fourteen studies (410 cases) were included. The incremental yield for multisystem UTMs, any isolated UTMs, and BEKs was 31% [95% CI, 18%–46%; I2 = 78%], 16% [95% CI, 6%–26%; I2 = 80%] and 51% [95% CI, 27%–75%; I2 = 34%]. The most common clinical diseases and syndromes identified, based on the variant genes detected, were Bardet‐Biedl syndrome (BBS genes), dominant and recessive polycystic kidney diseases (PKD1, PKD2 and PKHD1) and renal cysts and diabetes syndrome (HNF1B). Conclusion: There was a notable incremental genetic diagnostic yield when PES was applied to multisystem UTMs and BEKs. There was a modest incremental yield when this technique was used for UTMs other than BEKs. Key points: What's already known about this topic? Bilateral echogenic kidneys (BEKs) have a recognized association with monogenetic conditions and are an indication for prenatal exome sequencing (PES) in many healthcare systems. What does this study add? For urinary tract malformations other than BEKs, there is a modest incremental yield from PES over chromosome microarray and G‐banding karyotype. [ABSTRACT FROM AUTHOR]

Published
2024
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44. When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis

Author

Sonner, Sarah, Reilly, Kelly, Woolf, Adrian S., Chandler, Natalie, Kilby, Mark D., Maher, Eamonn R., Flanagan, Cheryl, McKnight, Amy Jayne, Mone, Fionnuala, Sonner, Sarah, Reilly, Kelly, Woolf, Adrian S., Chandler, Natalie, Kilby, Mark D., Maher, Eamonn R., Flanagan, Cheryl, McKnight, Amy Jayne, and Mone, Fionnuala

Abstract

OBJECTIVE: Determine the incremental yield of prenatal exome sequencing (PES) over chromosome microarray (CMA) and/or karyotype for urinary tract malformations (UTMs). METHOD: A prospective cohort study encompassing data from the English Genomic Medicine Service North Thames Laboratory Hub for fetuses with bilateral echogenic kidneys (BEKs) was combined with data from a systematic review. MEDLINE, EMBASE, Web of Science, MedRxiv and GreyLit were searched from 01/2010-02/2023 for studies reporting on the yield of PES over CMA or karyotype in fetuses with UTMs. Pooled incremental yield was determined using a random effects model. PROSPERO CRD42023364544. RESULTS: Fourteen studies (410 cases) were included. The incremental yield for multisystem UTMs, any isolated UTMs, and BEKs was 31% [95% CI, 18%-46%; I2 = 78%], 16% [95% CI, 6%-26%; I2 = 80%] and 51% [95% CI, 27%-75%; I2 = 34%]. The most common clinical diseases and syndromes identified, based on the variant genes detected, were Bardet-Biedl syndrome (BBS genes), dominant and recessive polycystic kidney diseases (PKD1, PKD2 and PKHD1) and renal cysts and diabetes syndrome (HNF1B). CONCLUSION: There was a notable incremental genetic diagnostic yield when PES was applied to multisystem UTMs and BEKs. There was a modest incremental yield when this technique was used for UTMs other than BEKs.

Published
2023

45. Evaluation of the Arabin cervical pessary for prevention of preterm birth in women with a twin pregnancy and short cervix (STOPPIT-2): An open-label randomised trial and updated meta-analysis

Author

Norman, Jane E., Norrie, John, MacLennan, Graeme, Cooper, David, Whyte, Sonia, Chowdhry, Sue, Cunningham-Burley, Sarah, Mei, Xue W., Smith, Joel B. E., Shennan, Andrew, Robson, Stephen C., Thornton, Steven, Kilby, Mark D., Marlow, Neil, Stock, Sarah J., Bennett, Phillip R., and Denton, Jane

Subjects
Pregnancy, Multiple -- Complications and side effects, Premature birth -- Risk factors -- Prevention, Obstetrics -- Equipment and supplies, Biological sciences
Abstract

Background Preterm-labour-associated preterm birth is a common cause of perinatal mortality and morbidity in twin pregnancy. We aimed to test the hypothesis that the Arabin pessary would reduce preterm-labour-associated preterm birth by 40% or greater in women with a twin pregnancy and a short cervix. Methods and findings We conducted an open-label randomised controlled trial in 57 hospital antenatal clinics in the UK and Europe. From 1 April 2015 to 14 February 2019, 2,228 women with a twin pregnancy underwent cervical length screening between 18 weeks 0 days and 20 weeks 6 days of gestation. In total, 503 women with cervical length [less than or equal to] 35 mm were randomly assigned to pessary in addition to standard care (n = 250, mean age 32.4 years, mean cervical length 29 mm, with pessary inserted in 230 women [92.0%]) or standard care alone (n = 253, mean age 32.7 years, mean cervical length 30 mm). The pessary was inserted before 21 completed weeks of gestation and removed at between 35 and 36 weeks or before birth if earlier. The primary obstetric outcome, spontaneous onset of labour and birth before 34 weeks 0 days of gestation, was present in 46/250 (18.4%) in the pessary group compared to 52/253 (20.6%) following standard care alone (adjusted odds ratio [aOR] 0.87 [95% CI 0.55-1.38], p = 0.54). The primary neonatal outcome-a composite of any of stillbirth, neonatal death, periventricular leukomalacia, early respiratory morbidity, intraventricular haemorrhage, necrotising enterocolitis, or proven sepsis, from birth to 28 days after the expected date of delivery-was present in 67/500 infants (13.4%) in the pessary group compared to 76/506 (15.0%) following standard care alone (aOR 0.86 [95% CI 0.54-1.36], p = 0.50). The positive and negative likelihood ratios of a short cervix ([less than or equal to]35 mm) to predict preterm birth before 34 weeks were 2.14 and 0.83, respectively. A meta-analysis of data from existing publications (4 studies, 313 women) and from STOPPIT-2 indicated that a cervical pessary does not reduce preterm birth before 34 weeks in women with a short cervix (risk ratio 0.74 [95% CI 0.50-1.11], p = 0.15). No women died in either arm of the study; 4.4% of babies in the Arabin pessary group and 5.5% of babies in the standard treatment group died in utero or in the neonatal period (p = 0.53). Study limitations include lack of power to exclude a smaller than 40% reduction in preterm labour associated preterm birth, and to be conclusive about subgroup analyses. Conclusions These results led us to reject our hypothesis that the Arabin pessary would reduce the risk of the primary outcome by 40%. Smaller treatment effects cannot be ruled out. Trial registration ISRCTN Registry ISRCTN 02235181. ClinicalTrials.gov NCT02235181., Author(s): Jane E. Norman 1,*, John Norrie 2, Graeme MacLennan 3, David Cooper 3, Sonia Whyte 4, Sue Chowdhry 5, Sarah Cunningham-Burley 5, Xue W. Mei 6, Joel B. E. [...]

Published
2021
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46. Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study

Author

Lord, Jenny, McMullan, Dominic J., Eberhardt, Ruth Y., Rinck, Gabriele, Hamilton, Susan J., Quinlan-Jones, Elizabeth, Prigmore, Elena, Keelagher, Rebecca, Best, Sunayna K., Carey, Georgina K., Mellis, Rhiannon, Robart, Sarah, Berry, Ian R., Chandler, Kate E., Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L., Gardiner, Carol, Henderson, Alex, Holden, Simon T., Homfray, Tessa, Lester, Tracy, Lewis, Rebecca A., Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W., Ramsden, Simon C., Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J., Vasudevan, Pradeep C., Weber, Astrid P., Wellesley, Diana G., Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H., Kilby, Mark D., Chitty, Lyn S., Hurles, Matthew E., and Maher, Eamonn R.

Published
2019
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