Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

por Bick, David, Jones, Marilyn, Taylor, Stacie L, Taft, Ryan J, Belmont, John
Publicado 2019

Reducing Sanger confirmation testing through false positive prediction algorithms

por Holt, James M., Kelly, Melissa, Sundlof, Brett, Nakouzi, Ghunwa, Bick, David, Lyon, Elaine
Publicado 2021

The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

por Pedersen-White, Jennifer R., Chorich, Lynn P., Bick, David P., Sherins, Richard J., Layman, Lawrence C.
Publicado 2008

An online compendium of treatable genetic disorders

por Bick, David, Bick, Sarah L., Dimmock, David P., Fowler, Tom A., Caulfield, Mark J., Scott, Richard H.
Publicado 2020

A study of elective genome sequencing and pharmacogenetic testing in an unselected population

por Cochran, Meagan, East, Kelly, Greve, Veronica, Kelly, Melissa, Kelley, Whitley, Moore, Troy, Myers, Richard M., Odom, Katherine, Schroeder, Molly C., Bick, David
Publicado 2021

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

por Marshall, Christian R., Bick, David, Belmont, John W., Taylor, Stacie L., Ashley, Euan, Dimmock, David, Jobanputra, Vaidehi, Kearney, Hutton M., Kulkarni, Shashikant, Rehm, Heidi
Publicado 2020

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

por Bick, David, Ahmed, Arzoo, Deen, Dasha, Ferlini, Alessandra, Garnier, Nicolas, Kasperaviciute, Dalia, Leblond, Mathilde, Pichini, Amanda, Rendon, Augusto, Satija, Aditi, Tuff-Lacey, Alice, Scott, Richard H.
Publicado 2022

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association...

por Richards, Sue, Aziz, Nazneen, Bale, Sherri, Bick, David, Das, Soma, Gastier-Foster, Julie, Grody, Wayne W., Hegde, Madhuri, Lyon, Elaine, Spector, Elaine, Voelkerding, Karl, Rehm, Heidi L.
Publicado 2015

Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity

por Hayeems, Robin Z., Luca, Stephanie, Hurst, Anna C. E., Cochran, Meagan, Owens, Chelsea, Hossain, Alomgir, Chad, Lauren, Meyn, M. Stephen, Pullenayegum, Eleanor, Ungar, Wendy J., Bick, David
Publicado 2022

Clinical diagnostic whole genome sequencing in a paediatric population: experience from our WGS genetics clinic

por Worthey, Elizabeth, Bick, David, Dimmock, David, Shimoyama, Mary, Veith, Regan, Kowalski, George, Taylor, Bradley, Wilk, Brandon, Tsaih, Sharon, Harris, Jeremy, Tschannen, Michael, Wendt-Andrae, Jaime, Brodie, Ken, Jacob, Howard
Publicado 2012

Clinical utility of genomic sequencing: a measurement toolkit

por Hayeems, Robin Z., Dimmock, David, Bick, David, Belmont, John W., Green, Robert C., Lanpher, Brendan, Jobanputra, Vaidehi, Mendoza, Roberto, Kulkarni, Shashi, Grove, Megan E., Taylor, Stacie L., Ashley, Euan
Publicado 2020

Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

por Pichini, Amanda, Ahmed, Arzoo, Patch, Christine, Bick, David, Leblond, Mathilde, Kasperaviciute, Dalia, Deen, Dasha, Wilde, Simon, Garcia Noriega, Sofia, Matoko, Christella, Tuff-Lacey, Alice, Wigley, Chris, Scott, Richard H.
Publicado 2022

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

por Lindhurst, Marjorie J., Wang, Ji-an, Bloomhardt, Hadley M., Witkowski, Alison M., Singh, Larry N., Bick, David P., Gambello, Michael J., Powell, Cynthia M., Lee, Chyi-Chia Richard, Darling, Thomas N., Biesecker, Leslie G.
Publicado 2013

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

por Marshall, Christian R., Chowdhury, Shimul, Taft, Ryan J., Lebo, Mathew S., Buchan, Jillian G., Harrison, Steven M., Rowsey, Ross, Klee, Eric W., Liu, Pengfei, Worthey, Elizabeth A., Jobanputra, Vaidehi, Dimmock, David, Kearney, Hutton M., Bick, David, Kulkarni, Shashikant, Taylor, Stacie L., Belmont, John W., Stavropoulos, Dimitri J., Lennon, Niall J.
Publicado 2020

Best practices for the interpretation and reporting of clinical whole genome sequencing

por Austin-Tse, Christina A., Jobanputra, Vaidehi, Perry, Denise L., Bick, David, Taft, Ryan J., Venner, Eric, Gibbs, Richard A., Young, Ted, Barnett, Sarah, Belmont, John W., Boczek, Nicole, Chowdhury, Shimul, Ellsworth, Katarzyna A., Guha, Saurav, Kulkarni, Shashikant, Marcou, Cherisse, Meng, Linyan, Murdock, David R., Rehman, Atteeq U., Spiteri, Elizabeth, Thomas-Wilson, Amanda, Kearney, Hutton M., Rehm, Heidi L.
Publicado 2022

Implementing genomic medicine in the clinic: the future is here

por Manolio, Teri A., Chisholm, Rex L., Ozenberger, Brad, Roden, Dan M., Williams, Marc S., Wilson, Richard, Bick, David, Bottinger, Erwin P., Brilliant, Murray H., Eng, Charis, Frazer, Kelly A., Korf, Bruce, Ledbetter, David H., Lupski, James R., Marsh, Clay, Mrazek, David, Murray, Michael F., O'Donnell, Peter H., Rader, Daniel J., Relling, Mary V., Shuldiner, Alan R., Valle, David, Weinshilboum, Richard, Green, Eric D., Ginsburg, Geoffrey S.
Publicado 2013

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

por O’Daniel, Julianne M., McLaughlin, Heather M., Amendola, Laura M., Bale, Sherri J., Berg, Jonathan S., Bick, David, Bowling, Kevin M., Chao, Elizabeth C., Chung, Wendy K., Conlin, Laura K., Cooper, Gregory M., Das, Soma, Deignan, Joshua L., Dorschner, Michael O., Evans, James P., Ghazani, Arezou A., Goddard, Katrina A., Gornick, Michele, Farwell Hagman, Kelly D., Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A., Holm, Ingrid A., Jarvik, Gail P., Johnson, Amy Knight, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E., Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H., Spinner, Nancy B., Tang, Sha, Weck, Karen E., Wolf, Susan M., Yang, Yaping, Rehm, Heidi L.
Publicado 2016

Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

por Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K., Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J. M., Rebelo-Guiomar, Pedro F., Saada, Ann, Sainz, Bruno, Salvemini, Hayley, Schoots, Mirthe H., Smeitink, Jan A., Szukszto, Maciej J., ter Horst, Hendrik J., van den Brandt, Frans, van Spronsen, Francjan J., Veltman, Joris A., Wartchow, Eric, Wintjes, Liesbeth T., Zohar, Yaniv, Fernández-Moreno, Miguel A., Baris, Hagit N., Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J., Van Hove, Johan L. K.
Publicado 2018

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla...

por Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Publicado 2015

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

por Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., Rubboli, Guido
Publicado 2021