Search Results - "Robinson, Rachel L."

The role of CACNA1S in predisposition to malignant hyperthermia by Carpenter, Danielle, Ringrose, Christopher, Leo, Vincenzo, Morris, Andrew, Robinson, Rachel L, Halsall, P Jane, Hopkins, Philip M, Shaw, Marie-Anne

“…Malignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle, characterised by an elevated calcium release from the skeletal muscle…”
Get full text

Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility by Johnston, Jennifer J, Dirksen, Robert T, Girard, Thierry, Hopkins, Phil M, Kraeva, Natalia, Ognoon, Mungunsukh, Radenbaugh, K Bailey, Riazi, Sheila, Robinson, Rachel L, Saddic Iii, Louis A, Sambuughin, Nyamkhishig, Saxena, Richa, Shepherd, Sarah, Stowell, Kathryn, Weber, James, Yoo, Seeley, Rosenberg, Henry, Biesecker, Leslie G

“…The ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel specified the American College of Medical Genetics and…”
Get full text

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads by Watson, Christopher M., Camm, Nick, Crinnion, Laura A., Clokie, Samuel, Robinson, Rachel L., Adlard, Julian, Charlton, Ruth, Markham, Alexander F., Carr, Ian M., Bonthron, David T.

“…Background Diagnostic genetic testing programmes based on next-generation DNA sequencing have resulted in the accrual of large datasets of targeted raw…”
Get full text

A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families by Carpenter, Danielle, Ismail, Azzam, Robinson, Rachel L., Ringrose, Christopher, Booms, Patrick, Iles, David E., Halsall, P. Jane, Steele, Derek, Shaw, Marie-Anne, Hopkins, Philip M.

“…In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully…”
Get full text

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes by Robinson, Rachel L., Brooks, Collin, Brown, Sarah L., Ellis, F. Richard, Halsall, P. Jane, Quinnell, Rupert J., Shaw, Marie-Anne, Hopkins, Philip M.

“…Malignant hyperthermia (MH) and central core disease (CCD) are autosomal dominant disorders of skeletal muscle. Susceptibility to MH is only apparent after…”
Get full text

Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia by Marchant, Clare L., Ellis, F. Richard, Halsall, P. Jane, Hopkins, Philip M., Robinson, Rachel L.

“…Hypokalemic periodic paralysis (HypoPP) and malignant hyperthermia (MH) are autosomal‐dominant genetically heterogeneous ion channelopathies. MH has been…”
Get full text

The role of CACNA1Sin predisposition to malignant hyperthermia by Carpenter, Danielle, Ringrose, Christopher, Leo, Vincenzo, Morris, Andrew, Robinson, Rachel L, Halsall, P Jane, Hopkins, Philip M, Shaw, Marie-Anne

Get full text

A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees by Robinson, Rachel L., Monnier, Nicole, Wolz, Werner, Jung, Martin, Reis, André, Nuernberg, Gudrun, Curran, Julie L., Monsieurs, Koen, Stieglitz, Paul, Heytens, Luc, Fricker, Ruth, van Broeckhoven, Christine, Deufel, Thomas, Hopkins, Phil M., Lunardi, Joel, Mueller, Clemens R.

“…Malignant hyperthermia (MH) is an autosomal dominant disorder which is potentially lethal in susceptible individuals on exposure to commonly used inhalational…”
Get full text

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity by Hendricks, Audrey E., Bochukova, Elena G., Marenne, Gaëlle, Keogh, Julia M., Atanassova, Neli, Bounds, Rebecca, Wheeler, Eleanor, Mistry, Vanisha, Henning, Elana, Körner, Antje, Muddyman, Dawn, McCarthy, Shane, Hinney, Anke, Hebebrand, Johannes, Scott, Robert A., Langenberg, Claudia, Wareham, Nick J., Surendran, Praveen, Howson, Joanna M., Butterworth, Adam S., Danesh, John, Nordestgaard, Børge G, Nielsen, Sune F, Afzal, Shoaib, Papadia, Sofia, Ashford, Sofie, Garg, Sumedha, Millhauser, Glenn L., Palomino, Rafael I., Kwasniewska, Alexandra, Tachmazidou, Ioanna, O’Rahilly, Stephen, Zeggini, Eleftheria, Barroso, Inês, Farooqi, I. Sadaf

“…Obesity is a genetically heterogeneous disorder. Using targeted and whole-exome sequencing, we studied 32 human and 87 rodent obesity genes in 2,548 severely…”
Get full text

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume by Haworth, Simon, Shapland, Chin Yang, Hayward, Caroline, Prins, Bram P., Felix, Janine F., Medina-Gomez, Carolina, Rivadeneira, Fernando, Wang, Carol, Ahluwalia, Tarunveer S., Vrijheid, Martine, Guxens, Mònica, Sunyer, Jordi, Tachmazidou, Ioanna, Walter, Klaudia, Iotchkova, Valentina, Jackson, Andrew, Cleal, Louise, Huffmann, Jennifer, Min, Josine L., Sass, Lærke, Timmers, Paul R. H. J., Davey Smith, George, Fisher, Simon E., Wilson, James F., Cole, Tim J., Fernandez-Orth, Dietmar, Bønnelykke, Klaus, Bisgaard, Hans, Pennell, Craig E., Jaddoe, Vincent W. V., Dedoussis, George, Timpson, Nicholas, Zeggini, Eleftheria, Vitart, Veronique, St Pourcain, Beate

“…Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The…”
Get full text

The application of staged diabetes management to screening for renal disease by Robinson, Rachel L, Simonson, Gregg D, Benjamin, Evan, Clark, Linda

Get full text

Use of a microsoft access based audit tool for collection of diabetes quality improvement indictors by Robinson, Rachel L, Sundem, Stuart L, Upham, Paul, Weaver, Todd, Simonson, Gregg, Bradley, Renea, Idrogo, Manuel, Strock, Ellie, Kendall, David, Acton, Kelly, Mazze, Roger

Get full text