Search Results - "Thomas, Simon N"

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance by Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana

“…Purpose Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing…”
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Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia by Shoemark, Amelia, Rubbo, Bruna, Legendre, Marie, Fassad, Mahmood R, Haarman, Eric G, Best, Sunayna, Bon, Irma C M, Brandsma, Joost, Burgel, Pierre-Regis, Carlsson, Gunnar, Carr, Siobhan B, Carroll, Mary, Edwards, Matt, Escudier, Estelle, Honoré, Isabelle, Hunt, David, Jouvion, Gregory, Loebinger, Michel R, Maitre, Bernard, Morris-Rosendahl, Deborah, Papon, Jean-Francois, Parsons, Camille M, Patel, Mitali P, Thomas, Simon N, Thouvenin, Guillaume, Walker, Woolf T, Wilson, Robert, Hogg, Claire, Mitchison, Hannah M, Lucas, Jane S

“…Primary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutations in approximately 50 cilia-related genes. PCD genotype-phenotype…”
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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project by Moore, A Rachel, Yu, Jing, Pei, Yang, Cheng, Emily W Y, Taylor Tavares, Ana Lisa, Walker, Woolf T, Thomas, N Simon, Kamath, Arveen, Ibitoye, Rita, Josifova, Dragana, Wilsdon, Anna, Ross, Alison, Calder, Alistair D, Offiah, Amaka C, Wilkie, Andrew O M, Taylor, Jenny C, Pagnamenta, Alistair T

“…Current clinical testing methods used to uncover the genetic basis of rare disease have inherent limitations, which can lead to causative pathogenic variants…”
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DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation by Bala Tannan, Neeta, Brahmachary, Manisha, Garg, Paras, Borel, Christelle, Alnefaie, Randah, Watson, Corey T, Thomas, N Simon, Sharp, Andrew J

“…X chromosome inactivation (XCI) is an epigenetic mechanism that silences the majority of genes on one X chromosome in females. Previous studies have suggested…”
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A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies by Nazlamova, Liliya, Thomas, N. Simon, Cheung, Man-Kim, Legebeke, Jelmer, Lord, Jenny, Pengelly, Reuben J., Tapper, William J., Wheway, Gabrielle

“…Ciliopathies are a broad range of inherited developmental and degenerative diseases associated with structural or functional defects in motile or primary…”
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Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach by Jaramillo Oquendo, Carolina, Wai, Htoo A, Rich, Wil I, Bunyan, David J, Thomas, N Simon, Hunt, David, Lord, Jenny, Douglas, Andrew G L, Baralle, Diana

“…RNA sequencing (RNA-seq) is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA analysis has been uninformative. RNA-seq…”
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Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome by Devlin, Laura A., Coles, Janice, Jackson, Claire L., Barroso‐Gil, Miguel, Green, Ben, Walker, Woolf T., Thomas, N. Simon, Thompson, James, Rock, Simon A., Neatu, Ruxandra, Powell, Laura, Molinari, Elisa, Wilson, Ian J., Cordell, Heather J., Olinger, Eric, Miles, Colin G., Sayer, John A., Wheway, Gabrielle, Lucas, Jane S.

“…Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary…”
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Whole genome sequencing in the diagnosis of primary ciliary dyskinesia by Wheway, Gabrielle, Thomas, N Simon, Carroll, Mary, Coles, Janice, Doherty, Regan, Goggin, Patricia, Green, Ben, Harris, Amanda, Hunt, David, Jackson, Claire L, Lord, Jenny, Mennella, Vito, Thompson, James, Walker, Woolf T, Lucas, Jane S

“…It is estimated that 1-13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with…”
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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project by Blakes, Alexander J M, Wai, Htoo A, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F, Taylor Tavares, Ana Lisa, O'Donovan, Peter, Douglas, Andrew G L, Whiffin, Nicola, Baralle, Diana, Lord, Jenny

“…Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are…”
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A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service by Seaby, Eleanor G, Thomas, N Simon, Hunt, David, Baralle, Diana, Rehm, Heidi L, O'Donnell-Luria, Anne, Ennis, Sarah

“…Genome sequencing is available as a clinical test in the UK through the Genomic Medicine Service (GMS). The GMS analytical strategy predominantly filters…”
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Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B) by Lin, Siying, Sanchez-Bretaño, Aida, Leslie, Joseph S., Williams, Katie B., Lee, Helena, Thomas, N. Simon, Callaway, Jonathan, Deline, James, Ratnayaka, J. Arjuna, Baralle, Diana, Schmitt, Melanie A., Norman, Chelsea S., Hammond, Sheri, Harlalka, Gaurav V., Ennis, Sarah, Cross, Harold E., Wenger, Olivia, Crosby, Andrew H., Baple, Emma L., Self, Jay E.

“…Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in…”
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Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region by Benito-Sanz, Sara, Belinchon-Martínez, Alberta, Aza-Carmona, Miriam, de la Torre, Carolina, Huber, Celine, González-Casado, Isabel, Ross, Judith L, Thomas, N Simon, Zinn, Andrew R, Cormier-Daire, Valerie, Heath, Karen E

“…Short stature homeobox gene (SHOX) is located in the pseudoautosomal region 1 of the sex chromosomes. It encodes a transcription factor implicated in the…”
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The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum by Rumman, Nisreen, Fassad, Mahmoud R, Driessens, Corine, Goggin, Patricia, Abdelrahman, Nader, Adwan, Adel, Albakri, Mutaz, Chopra, Jagrati, Doherty, Regan, Fashho, Bishara, Freke, Grace M, Hasaballah, Abdallah, Jackson, Claire L, Mohamed, Mai A, Abu Nema, Reda, Patel, Mitali P, Pengelly, Reuben J, Qaaqour, Ahmad, Rubbo, Bruna, Thomas, N Simon, Thompson, James, Walker, Woolf T, Wheway, Gabrielle, Mitchison, Hannah M, Lucas, Jane S

“…Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the…”
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De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance by SIBBONS, Charlene, MORRIS, Joan K, CROLLA, John A, JACOBS, Patricia A, SIMON THOMAS, N

“…We report a large series of 173 patients with physical and/or neurological abnormalities and a de novo imbalance identified by array CGH. Breakpoint intervals…”
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A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis by Benito-Sanz, Sara, Thomas, N. Simon, Huber, Céline, del Blanco, Darya Gorbenko, Aza-Carmona, Miriam, Crolla, John A., Maloney, Vivienne, Argente, Jesús, Campos-Barros, Ángel, Cormier-Daire, Valérie, Heath, Karen E.

“…Léri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the…”
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Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype by Milner, Katja M., Craig, Ellen E., Thompson, Russell J., Veltman, Marijcke W.M., Simon Thomas, N., Roberts, Sian, Bellamy, Margaret, Curran, Sarah R., Sporikou, Caroline M.J., Bolton, Patrick F.

“…Background:  Studies of chromosome 15 abnormality have implicated over‐expression of paternally imprinted genes in the 15q11–13 region in the aetiology of…”
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Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction by Borel, Christelle, Cheung, Fanny, Stewart, Helen, Koolen, David A., Phillips, Christopher, Thomas, N. Simon, Jacobs, Patricia A., Eliez, Stephan, Sharp, Andrew J.

“…Recent studies have identified PRDM9, a zinc finger (ZF) protein, as a key regulator of meiotic recombination. As both recurrent genomic disorders and…”
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Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification by BUNYAN, D. J, ECCLES, D. M, CROSS, N. C. P, SILLIBOURNE, J, WILKINS, E, THOMAS, N. Simon, SHEA-SIMONDS, J, DUNCAN, P. J, CURTIS, C. E, ROBINSON, D. O, HARVEY, J. F

“…Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for detecting gross deletions or duplications of DNA sequences,…”
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Dosage‐sensitive X‐linked locus influences the development of amygdala and orbitofrontal cortex, and fear recognition in humans by Good, Catriona D., Lawrence, Kate, Thomas, N. Simon, Price, Cathy J., Ashburner, John, Friston, Karl J., Frackowiak, Richard S. J., Oreland, Lars, Skuse, David H.

“…The amygdala, which plays a critical role in emotional learning and social cognition, is structurally and functionally sexually dimorphic in humans. We used…”
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Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature by Thomas, N. Simon, Harvey, John F., Bunyan, David J., Rankin, Julia, Grigelioniene, Giedre, Bruno, Damien L., Tan, Tiong Y., Tomkins, Susan, Hastings, Robert

“…Deletions of the SHOX gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial SHOX…”
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