A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium HumanMethylation450 BeadChip(®) for methylome profiling von Clark, Christine, Palta, Priit, Joyce, Christopher J, Scott, Carol, Grundberg, Elin, Deloukas, Panos, Palotie, Aarno, Coffey, Alison J

Volltext

A genetic study of Wilson's disease in the United Kingdom von COFFEY, Alison J, DURKIE, Miranda, MIELI-VERGANI, Giorgina, KIRK, Richard, ELIZABETH ALLEN, K, NICHOLL, David, WONG, Siew, GRIFFITHS, William, SMITHSON, Sarah, GIFFIN, Nicola, TAHA, Ali, CONNOLLY, Sally, HAGUE, Stephen, GILLETT, Godfrey T, TANNER, Stuart, BONHAM, Jim, SHARRACK, Basil, PALOTIE, Aarno, RATTRAY, Magnus, DALTON, Ann, BANDMANN, Oliver, MCLAY, Kirsten, EMMERSON, Jennifer, LO, Christine, KLAFFKE, Stefanie, JOYCE, Christopher J, DHAWAN, Anil, HADZIC, Nedim

Volltext

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease von Gross, Andrew M., Ajay, Subramanian S., Rajan, Vani, Brown, Carolyn, Bluske, Krista, Burns, Nicole J., Chawla, Aditi, Coffey, Alison J., Malhotra, Alka, Scocchia, Alicia, Thorpe, Erin, Dzidic, Natasa, Hovanes, Karine, Sahoo, Trilochan, Dolzhenko, Egor, Lajoie, Bryan, Khouzam, Amirah, Chowdhury, Shimul, Belmont, John, Roller, Eric, Ivakhno, Sergii, Tanner, Stephen, McEachern, Julia, Hambuch, Tina, Eberle, Michael, Hagelstrom, R. Tanner, Bentley, David R., Perry, Denise L., Taft, Ryan J.

Volltext

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico von Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S., Rajan, Vani, Perry, Denise L., Belmont, John W., Bentley, David R., Jones, Marilyn C., Taft, Ryan J.

Volltext

Target-enrichment strategies for next-generation sequencing von Shendure, Jay, Turner, Daniel J, Mamanova, Lira, Coffey, Alison J, Scott, Carol E, Kozarewa, Iwanka, Turner, Emily H, Kumar, Akash, Howard, Eleanor

Volltext

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases von Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Brown, Carolyn, Brown, Matthew P., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Golden-Grant, Katie, Kesari, Akanchha, Malhotra, Alka, Milewski, Becky, Sajan, Samin A., Schlachetzki, Zinayida, Schmidt, Sarah, Thomas, Brittany, Thorpe, Erin, Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J.

Volltext

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources von DiStefano, Marina T., Goehringer, Scott, Babb, Lawrence, Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Austin-Tse, Christina, Balzotti, Marie, Berg, Jonathan S., Birney, Ewan, Bocchini, Carol, Bruford, Elspeth A., Coffey, Alison J., Collins, Heather, Cunningham, Fiona, Daugherty, Louise C., Einhorn, Yaron, Firth, Helen V., Fitzpatrick, David R., Foulger, Rebecca E., Goldstein, Jennifer, Hamosh, Ada, Hurles, Matthew R., Leigh, Sarah E., Leong, Ivone U.S., Maddirevula, Sateesh, Martin, Christa L., McDonagh, Ellen M., Olry, Annie, Puzriakova, Arina, Radtke, Kelly, Ramos, Erin M., Rath, Ana, Riggs, Erin Rooney, Roberts, Angharad M., Rodwell, Charlotte, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Tweedie, Susan, Ware, James S., Weller, Phillip, Williams, Eleanor, Wright, Caroline F., Yates, Thabo Michael, Rehm, Heidi L.

Volltext

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum von McCormick, Elizabeth M, Keller, Kierstin, Taylor, Julie P, Coffey, Alison J, Shen, Lishuang, Krotoski, Danuta, Harding, Brian, Gai, Xiaowu, Falk, Marni J, Zolkipli-Cunningham, Zarazuela, Rahman, Shamima

Volltext

An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies von Day-Williams, Aaron G, McLay, Kirsten, Drury, Eleanor, Edkins, Sarah, Coffey, Alison J, Palotie, Aarno, Zeggini, Eleftheria

Volltext

Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin von Boles, Melissa K, Wilkinson, Bonney M, Wilming, Laurens G, Liu, Bin, Probst, Frank J, Harrow, Jennifer, Grafham, Darren, Hentges, Kathryn E, Woodward, Lanette P, Maxwell, Andrea, Mitchell, Karen, Risley, Michael D, Johnson, Randy, Hirschi, Karen, Lupski, James R, Funato, Yosuke, Miki, Hiroaki, Marin-Garcia, Pablo, Matthews, Lucy, Coffey, Alison J, Parker, Anne, Hubbard, Tim J, Rogers, Jane, Bradley, Allan, Adams, David J, Justice, Monica J

Volltext

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome von Wemhöner, Konstantin, Friedrich, Corinna, Stallmeyer, Birgit, Coffey, Alison J, Grace, Andrew, Zumhagen, Sven, Seebohm, Guiscard, Ortiz-Bonnin, Beatriz, Rinné, Susanne, Sachse, Frank B, Schulze-Bahr, Eric, Decher, Niels

Volltext

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants von Lenassi, Eva, Vincent, Ajoy, Li, Zheng, Saihan, Zubin, Coffey, Alison J, Steele-Stallard, Heather B, Moore, Anthony T, Steel, Karen P, Luxon, Linda M, Héon, Elise, Bitner-Glindzicz, Maria, Webster, Andrew R

Volltext

Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study von Leschziner, Guy, Jorgensen, Andrea L, Pirmohamed, Munir, Williamson, Paula R, Marson, Anthony G, Coffey, Alison J, Middleditch, Claire, Rogers, Jane, Bentley, David R, Chadwick, David W, Balding, David J, Johnson, Michael R, Andrew, Toby

Volltext

Exon sequencing and high resolution haplotype analysis of ABC transporter genes implicated in drug resistance von Leschziner, Guy, Zabaneh, Delilah, Pirmohamed, M, Owen, Andrew, Rogers, Jane, Coffey, Alison J, Balding, David J, Bentley, David B, Johnson, Michael R

Volltext

A framework for the evaluation and reporting of incidental findings in clinical genomic testing von Brown, Carolyn M, Amendola, Laura M, Chandrasekhar, Anjana, Hagelstrom, R Tanner, Halter, Gillian, Kesari, Akanchha, Thorpe, Erin, Perry, Denise L, Taft, Ryan J, Coffey, Alison J

Volltext

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus von Johnson, Michael R., Behmoaras, Jacques, Bottolo, Leonardo, Krishnan, Michelle L., Pernhorst, Katharina, Santoscoy, Paola L. Meza, Rossetti, Tiziana, Speed, Doug, Srivastava, Prashant K., Chadeau-Hyam, Marc, Hajji, Nabil, Dabrowska, Aleksandra, Rotival, Maxime, Razzaghi, Banafsheh, Kovac, Stjepana, Wanisch, Klaus, Grillo, Federico W., Slaviero, Anna, Langley, Sarah R., Shkura, Kirill, Roncon, Paolo, De, Tisham, Mattheisen, Manuel, Niehusmann, Pitt, O’Brien, Terence J., Petrovski, Slave, von Lehe, Marec, Hoffmann, Per, Eriksson, Johan, Coffey, Alison J., Cichon, Sven, Walker, Matthew, Simonato, Michele, Danis, Bénédicte, Mazzuferi, Manuela, Foerch, Patrik, Schoch, Susanne, De Paola, Vincenzo, Kaminski, Rafal M., Cunliffe, Vincent T., Becker, Albert J., Petretto, Enrico

Volltext

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy von Sajan, Samin A, Gradisch, Ralph, Vogel, Florian D, Coffey, Alison J, Salyakina, Daria, Soler, Diana, Jayakar, Parul, Jayakar, Anuj, Bianconi, Simona E, Cooper, Annina H, Liu, Shuxi, William, Nancy, Benkel-Herrenbrück, Ira, Maiwald, Robert, Heller, Corina, Biskup, Saskia, Leiz, Steffen, Westphal, Dominik S, Wagner, Matias, Clarke, Amy, Stockner, Thomas, Ernst, Margot, Kesari, Akanchha, Krenn, Martin

Volltext

A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships von Taylor, Julie P., Malhotra, Alka, Burns, Nicole J., Clause, Amanda R., Brown, Carolyn M., Burns, Brendan T., Chandrasekhar, Anjana, Schlachetzki, Zinayida, Bennett, Maren, Thorpe, Erin, Taft, Ryan J., Perry, Denise L., Coffey, Alison J.

Volltext

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions von Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise M, Suchy, Sharon F, Begtrup, Amber, Langley, Katherine G, Hernan, Rebecca, Amendola, Laura M, Boyd, Brenna M, Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian L, Coffey, Alison J, Devaney, Joseph M, Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsay L, Gyimah, Awura, Hahn, Sihoun, Hofherr, Sean, Hruska, Kathleen S, Hu, Zhanzhi, Jeanne, Médéric, Jin, Guanjun, Johnson, D. Aaron, Kavus, Haluk, Leibel, Rudolph L, Lobritto, Steven J, McGee, Stephen, Milner, Joshua D, McWalter, Kirsty, Monaghan, Kristin G, Orange, Jordan S, Pimentel Soler, Nicole, Quevedo, Yeyson, Ratner, Samantha, Retterer, Kyle, Shah, Ankur, Shapiro, Natasha, Sicko, Robert J, Silver, Eric S, Strom, Samuel, Torene, Rebecca I, Williams, Olatundun, Ustach, Vincent D, Wynn, Julia, Taft, Ryan J, Kruszka, Paul, Caggana, Michele, Chung, Wendy K

Volltext

Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type–specific hypomethylated regions von Zilbauer, Matthias, Rayner, Tim F., Clark, Christine, Coffey, Alison J., Joyce, Chris J., Palta, Priit, Palotie, Aarno, Lyons, Paul A., Smith, Kenneth G.C.

Volltext