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1.

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.

Iwata-Otsubo, Aiko; Skraban, Cara M; Yoshimura, Atsunori; Sakata, Toyonori; Alves, Cesar Augusto P; Fiordaliso, Sarah K; Kuroda, Yukiko; Vengoechea, Jaime; Grochowsky, Angela; Ernste, Paige; Lulis, Lauren; Nesbitt, Addie; Tayoun, Ahmad Abou; Gray, Christopher; Towne, Meghan C; Radtke, Kelly; Normand, Elizabeth A; Rhodes, Lindsay; Seiler, Christoph; Shirahige, Katsuhiko; Izumi, Kosuke.

Hum Genet; 143(3): 437-453, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38520561

2.

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

Rehm, Heidi L; Alaimo, Joseph T; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G; Chao, Elizabeth C; Chen, Elaine; Clifford, Jacob; Cohen, Ana S A; Conlin, Laura K; Das, Soma; Davis, Kyle W; Del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B; Harrison, Steven M; Hatchell, Kathryn E; Dyer, Lindsay Havens; Hoang, Lily U; Holt, James M; Jobanputra, Vaidehi; Karbassi, Izabela D; Kearney, Hutton M; Kelly, Melissa A; Kelly, Jacob M; Kluge, Michelle L; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S; Marshall, Christian R; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K; Paolucci, Sarah A; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J; Retterer, Kyle.

Genet Med; 25(12): 100947, 2023 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-37534744

3.

Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher.

Towne, Meghan C; Rossi, Mari; Wayburn, Bess; Huang, Jennifer M; Radtke, Kelly; Alcaraz, Wendy; Farwell Hagman, Kelly D; Shinde, Deepali N.

Hum Mutat; 43(6): 772-781, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35143109

4.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.

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.

Genet Med; 24(8): 1732-1742, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-35507016

5.

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

Ng, Bobby G; Xu, Gege; Chandy, Nandini; Steyermark, Joan; Shinde, Deepali N; Radtke, Kelly; Raymond, Kimiyo; Lebrilla, Carlito B; AlAsmari, Ali; Suchy, Sharon F; Powis, Zöe; Faqeih, Eissa Ali; Berry, Susan A; Kronn, David F; Freeze, Hudson H.

Am J Hum Genet; 102(1): 188-195, 2018 01 04.

Artículo en Inglés | MEDLINE | ID: mdl-29304374

6.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira, Carlos R; Xia, Zhi-Jie; Clément, Aurélie; Parry, David A; Davids, Mariska; Taylan, Fulya; Sharma, Prashant; Turgeon, Coleman T; Blanco-Sánchez, Bernardo; Ng, Bobby G; Logan, Clare V; Wolfe, Lynne A; Solomon, Benjamin D; Cho, Megan T; Douglas, Ganka; Carvalho, Daniel R; Bratke, Heiko; Haug, Marte Gjøl; Phillips, Jennifer B; Wegner, Jeremy; Tiemeyer, Michael; Aoki, Kazuhiro; Nordgren, Ann; Hammarsjö, Anna; Duker, Angela L; Rohena, Luis; Hove, Hanne Buciek; Ek, Jakob; Adams, David; Tifft, Cynthia J; Onyekweli, Tito; Weixel, Tara; Macnamara, Ellen; Radtke, Kelly; Powis, Zöe; Earl, Dawn; Gabriel, Melissa; Russi, Alvaro H Serrano; Brick, Lauren; Kozenko, Mariya; Tham, Emma; Raymond, Kimiyo M; Phillips, John A; Tiller, George E; Wilson, William G; Hamid, Rizwan; Malicdan, May C V; Nishimura, Gen; Grigelioniene, Giedre; Jackson, Andrew.

Am J Hum Genet; 103(4): 553-567, 2018 10 04.

Artículo en Inglés | MEDLINE | ID: mdl-30290151

7.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders, Margot R F; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline A C; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B A; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A L; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W E; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L.

Am J Hum Genet; 102(6): 1195-1203, 2018 06 07.

Artículo en Inglés | MEDLINE | ID: mdl-29861108

8.

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Liu, Ning; Schoch, Kelly; Luo, Xi; Pena, Loren D M; Bhavana, Venkata Hemanjani; Kukolich, Mary K; Stringer, Sarah; Powis, Zöe; Radtke, Kelly; Mroske, Cameron; Deak, Kristen L; McDonald, Marie T; McConkie-Rosell, Allyn; Markert, M Louise; Kranz, Peter G; Stong, Nicholas; Need, Anna C; Bick, David; Amaral, Michelle D; Worthey, Elizabeth A; Levy, Shawn; Wangler, Michael F; Bellen, Hugo J; Shashi, Vandana; Yamamoto, Shinya.

Hum Mol Genet; 27(14): 2454-2465, 2018 07 15.

Artículo en Inglés | MEDLINE | ID: mdl-29726930

9.

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.

Powis, Zöe; Towne, Meghan C; Hagman, Kelly D F; Blanco, Kirsten; Palmaer, Erika; Castro, Andrew; Sajan, Samin A; Radtke, Kelly; Feyma, Timothy J; Juliette, Kali; Tang, Sha; Sidiropoulos, Christos.

Clin Genet; 97(2): 305-311, 2020 02.

Artículo en Inglés | MEDLINE | ID: mdl-31628766

10.

Genotype-phenotype correlation at codon 1740 of SETD2.

Rabin, Rachel; Radmanesh, Alireza; Glass, Ian A; Dobyns, William B; Aldinger, Kimberly A; Shieh, Joseph T; Romoser, Shelby; Bombei, Hannah; Dowsett, Leah; Trapane, Pamela; Bernat, John A; Baker, Janice; Mendelsohn, Nancy J; Popp, Bernt; Siekmeyer, Manuela; Sorge, Ina; Sansbury, Francis Hugh; Watts, Patrick; Foulds, Nicola C; Burton, Jennifer; Hoganson, George; Hurst, Jane A; Menzies, Lara; Osio, Deborah; Kerecuk, Larissa; Cobben, Jan M; Jizi, Khadijé; Jacquemont, Sebastien; Bélanger, Stacey A; Löhner, Katharina; Veenstra-Knol, Hermine E; Lemmink, Henny H; Keller-Ramey, Jennifer; Wentzensen, Ingrid M; Punj, Sumit; McWalter, Kirsty; Lenberg, Jerica; Ellsworth, Katarzyna A; Radtke, Kelly; Akbarian, Schahram; Pappas, John.

Am J Med Genet A; 182(9): 2037-2048, 2020 09.

Artículo en Inglés | MEDLINE | ID: mdl-32710489

11.

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.

Smith, Erica D; Blanco, Kirsten; Sajan, Samin A; Hunter, Jesse M; Shinde, Deepali N; Wayburn, Bess; Rossi, Mari; Huang, Jennifer; Stevens, Cathy A; Muss, Candace; Alcaraz, Wendy; Hagman, Kelly D Farwell; Tang, Sha; Radtke, Kelly.

Genet Med; 21(10): 2199-2207, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-30894705

12.

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Farwell Hagman, Kelly D; Shinde, Deepali N; Mroske, Cameron; Smith, Erica; Radtke, Kelly; Shahmirzadi, Layla; El-Khechen, Dima; Powis, Zöe; Chao, Elizabeth C; Alcaraz, Wendy A; Helbig, Katherine L; Sajan, Samin A; Rossi, Mari; Lu, Hsiao-Mei; Huether, Robert; Li, Shuwei; Wu, Sitao; Nuñes, Mark E; Tang, Sha.

Genet Med; 20(9): 1099-1102, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-29388939

13.

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

Smith, Erica D; Radtke, Kelly; Rossi, Mari; Shinde, Deepali N; Darabi, Sourat; El-Khechen, Dima; Powis, Zöe; Helbig, Katherine; Waller, Kendra; Grange, Dorothy K; Tang, Sha; Farwell Hagman, Kelly D.

Hum Mutat; 38(5): 600-608, 2017 05.

Artículo en Inglés | MEDLINE | ID: mdl-28106320

14.

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Farwell Hagman, Kelly D; Shinde, Deepali N; Mroske, Cameron; Smith, Erica; Radtke, Kelly; Shahmirzadi, Layla; El-Khechen, Dima; Powis, Zöe; Chao, Elizabeth C; Alcaraz, Wendy A; Helbig, Katherine L; Sajan, Samin A; Rossi, Mari; Lu, Hsiao-Mei; Huether, Robert; Li, Shuwei; Wu, Sitao; Nuñes, Mark E; Tang, Sha.

Genet Med; 19(2): 224-235, 2017 02.

Artículo en Inglés | MEDLINE | ID: mdl-27513193

15.

Cellular retinoic acid-binding proteins are essential for hindbrain patterning and signal robustness in zebrafish.

Cai, Anna Q; Radtke, Kelly; Linville, Angela; Lander, Arthur D; Nie, Qing; Schilling, Thomas F.

Development; 139(12): 2150-5, 2012 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-22619388

16.

Noise drives sharpening of gene expression boundaries in the zebrafish hindbrain.

Zhang, Lei; Radtke, Kelly; Zheng, Likun; Cai, Anna Q; Schilling, Thomas F; Nie, Qing.

Mol Syst Biol; 8: 613, 2012.

Artículo en Inglés | MEDLINE | ID: mdl-23010996

17.

Combinatorial roles for zebrafish retinoic acid receptors in the hindbrain, limbs and pharyngeal arches.

Linville, Angela; Radtke, Kelly; Waxman, Joshua S; Yelon, Deborah; Schilling, Thomas F.

Dev Biol; 325(1): 60-70, 2009 Jan 01.

Artículo en Inglés | MEDLINE | ID: mdl-18929555

18.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.

Basilicata, M Felicia; Bruel, Ange-Line; Semplicio, Giuseppe; Valsecchi, Claudia Isabelle Keller; Aktas, Tugçe; Duffourd, Yannis; Rumpf, Tobias; Morton, Jenny; Bache, Iben; Szymanski, Witold G; Gilissen, Christian; Vanakker, Olivier; Õunap, Katrin; Mittler, Gerhard; van der Burgt, Ineke; El Chehadeh, Salima; Cho, Megan T; Pfundt, Rolph; Tan, Tiong Yang; Kirchhoff, Maria; Menten, Björn; Vergult, Sarah; Lindstrom, Kristin; Reis, André; Johnson, Diana S; Fryer, Alan; McKay, Victoria; Fisher, Richard B; Thauvin-Robinet, Christel; Francis, David; Roscioli, Tony; Pajusalu, Sander; Radtke, Kelly; Ganesh, Jaya; Brunner, Han G; Wilson, Meredith; Faivre, Laurence; Kalscheuer, Vera M; Thevenon, Julien; Akhtar, Asifa.

Nat Genet; 50(10): 1442-1451, 2018 10.

Artículo en Inglés | MEDLINE | ID: mdl-30224647

19.

Get to the root of sentinel events involving infection control.

Radtke, Kelly.

Nurs Manage; 35(6): 18, 22, 2004 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-15184741

20.

Take the fear out of sentinel events.

Radtke, Kelly; Milton, Celeste.

Nurs Manage; 34(6): 24-6, 2003 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-12789049

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