SYSTEMATIC REVIEW,
The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis N. A. J. Ryan, M. A. Glaire, D. Blake, M. Cabrera-Dandy, D. G. Evans et al. Genetics in Medicine 2019 21 :2167 - 2180; May 14, 2019; 10.1038/s41436-019-0536-8 Abstract | Full Text
COMMENT
What do we do now?: Responding to claims of germline gene editing in humans Megan Allyse, Yvonne Bombard, Rosario Isasi, Marsha Michie, Kiran Musunuru et al. Genetics in Medicine 2019 21 :2181 - 2183; March 27, 2019; 10.1038/s41436-019-0492-3 Abstract | Full Text
ARTICLE
CRISPR in the North American popular press Alessandro Marcon, Zubin Master, Vardit Ravitsky & Timothy Caulfield Genetics in Medicine 2019 21 :2184 - 2189; April 12, 2019; 10.1038/s41436-019-0482-5 Abstract | Full Text
Rethinking the “open future” argument against predictive genetic testing of children Jeremy R. Garrett, John D. Lantos, Leslie G. Biesecker, Janet E. Childerhose, Wendy K. Chung et al. Genetics in Medicine 2019 21 :2190 - 2198; March 21, 2019; 10.1038/s41436-019-0483-4 Abstract | Full Text
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses Erica D. Smith, Kirsten Blanco, Samin A. Sajan, Jesse M. Hunter, Deepali N. Shinde et al. Genetics in Medicine 2019 21 :2199 - 2207; March 21, 2019; 10.1038/s41436-019-0477-2 Abstract | Full Text
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases Shoko Komatsuzaki, Matthias Zielonka, William K. Mountford, Stefan Kölker, Georg F. Hoffmann et al. Genetics in Medicine 2019 21 :2208 - 2215; March 22, 2019; 10.1038/s41436-019-0480-7 Abstract | Full Text
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics Allan Bayat, Alexej Knaus, Annika Wollenberg Juul, Dejan Dukic, Elena Gardella et al. Genetics in Medicine 2019 21 :2216 - 2223; April 12, 2019; 10.1038/s41436-019-0512-3 Abstract | Full Text
Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China Ziqing Ye, Ying Huang, Cuifang Zheng, Yuhuan Wang, Junping Lu et al. Genetics in Medicine 2019 21 :2224 - 2230; March 21, 2019; 10.1038/s41436-019-0488-z Abstract | Full Text
Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China Qiuju Wang, Jiale Xiang, Jun Sun, Yun Yang, Jing Guan et al. Genetics in Medicine 2019 21 :2231 - 2238; March 20, 2019; 10.1038/s41436-019-0481-6 Abstract | Full Text
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant et al. Genetics in Medicine 2019 21 :2239 - 2247; March 21, 2019; 10.1038/s41436-019-0487-0 Abstract | Full Text
Variant classification changes over time in BRCA1 and BRCA2 Chloe Mighton, George S. Charames, Marina Wang, Kathleen-Rose Zakoor, Andrew Wong et al. Genetics in Medicine 2019 21 :2248 - 2254; April 11, 2019; 10.1038/s41436-019-0493-2 Abstract | Full Text
Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing Larisa H. Cavallari, Sara L. Van Driest, Cynthia A. Prows, Jeffrey R. Bishop, Nita A. Limdi et al. Genetics in Medicine 2019 21 :2255 - 2263; March 21, 2019; 10.1038/s41436-019-0484-3 Abstract | Full Text
Challenges and lessons learned from clinical pharmacogenetic implementation of multiple gene–drug pairs across ambulatory care settings Emily J. Cicali, Kristin Wiisanen Weitzel, Amanda R. Elsey, Frank A. Orlando, Michelle Vinson et al. Genetics in Medicine 2019 21 :2264 - 2274; March 30, 2019; 10.1038/s41436-019-0500-7 Abstract | Full Text
A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency Svetlana A. Yatsenko, Michelle Wood-Trageser, Tianjiao Chu, Huaiyang Jiang & Aleksandar Rajkovic Genetics in Medicine 2019 21 :2275 - 2284; April 05, 2019; 10.1038/s41436-019-0505-2 Abstract | Full Text
Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations Brian G. Skotko, Megan A. Allyse, Komal Bajaj, Robert G. Best, Susan Klugman et al. Genetics in Medicine 2019 21 :2285 - 2292; April 03, 2019; 10.1038/s41436-019-0485-2 Abstract | Full Text
Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests Xing Ji, Jia Li, Yonghua Huang, Pi-Lin Sung, Yuying Yuan et al. Genetics in Medicine 2019 21 :2293 - 2302; April 12, 2019; 10.1038/s41436-019-0510-5 Abstract | Full Text
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care Maayke A. de Koning, Monique C. Haak, Phebe N. Adama van Scheltema, Cacha M. P. C. D. Peeters-Scholte, Tamara T. Koopmann et al. Genetics in Medicine 2019 21 :2303 - 2310; March 28, 2019; 10.1038/s41436-019-0499-9 Abstract | Full Text
Mobility in osteogenesis imperfecta: a multicenter North American study Karen M. Kruger, Angela Caudill, Mercedes Rodriguez Celin, Sandesh C. S. Nagamani, Jay R. Shapiro et al. Genetics in Medicine 2019 21 :2311 - 2318; March 28, 2019; 10.1038/s41436-019-0491-4 Abstract | Full Text
Disability inclusion in precision medicine research: a first national survey Maya Sabatello, Ying Chen, Yuan Zhang & Paul S. Appelbaum Genetics in Medicine 2019 21 :2319 - 2327; March 22, 2019; 10.1038/s41436-019-0486-1 Abstract | Full Text
All-cause mortality and survival in adults with 22q11.2 deletion syndrome Lily Van, Tracy Heung, Justin Graffi, Enoch Ng, Sarah Malecki et al. Genetics in Medicine 2019 21 :2328 - 2335; April 05, 2019; 10.1038/s41436-019-0509-y Abstract | Full Text
A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants Charles J. Wolock, Nicholas Stong, Chu Jian Ma, Takayuki Nagasaki, Winston Lee et al. Genetics in Medicine 2019 21 :2336 - 2344; March 30, 2019; 10.1038/s41436-019-0495-0 Abstract | Full Text
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis Bo Gong, Houbin Zhang, Lulin Huang, Yuhong Chen, Yi Shi et al. Genetics in Medicine 2019 21 :2345 - 2354; April 19, 2019; 10.1038/s41436-019-0507-0 Abstract | Full Text
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, Päivi Vieira, Naemeh Nayebzadeh et al. Genetics in Medicine 2019 21 :2355 - 2363; April 03, 2019; 10.1038/s41436-019-0503-4 Abstract | Full Text
Successful recruitment and retention of diverse participants in a genomics clinical trial: a good invitation to a great party Carol R. Horowitz, Tatiana Sabin, Michelle Ramos, Lynne D. Richardson, Diane Hauser et al. Genetics in Medicine 2019 21 :2364 - 2370; April 05, 2019; 10.1038/s41436-019-0498-x Abstract | Full Text
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study Hila Milo Rasouly, Julia Wynn, Maddalena Marasa, Rachel Reingold, Debanjana Chatterjee et al. Genetics in Medicine 2019 21 :2371 - 2380; April 01, 2019; 10.1038/s41436-019-0497-y Abstract | Full Text
Research participants’ preferences for receiving genetic risk information: a discrete choice experiment Jennifer Viberg Johansson, Sophie Langenskiöld, Pär Segerdahl, Mats G. Hansson, Ulrika Ugander Hösterey et al. Genetics in Medicine 2019 21 :2381 - 2389; April 17, 2019; 10.1038/s41436-019-0511-4 Abstract | Full Text
SPECIAL ARTICLE
The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome Emma J. Crosbie, Neil A. J. Ryan, Mark J. Arends, Tjalling Bosse, John Burn et al. Genetics in Medicine 2019 21 :2390 - 2400; March 28, 2019; 10.1038/s41436-019-0489-y Abstract | Full Text
CORRESPONDENCE
Letter: Relearning the 3 R’s? Reinterpretation, recontact, and return of genetic variants Bartha Maria Knoppers, Adrian Thorogood & Ma’n H. Zawati Genetics in Medicine 2019 21 :2401 - 2402; April 11, 2019; 10.1038/s41436-019-0494-1 Abstract | Full Text
Response to Knoppers et al. Karen L. David, Robert G. Best, Leslie Manace Brenman, Lynn Bush, Joshua Deignan et al. Genetics in Medicine 2019 21 :2403 - 2403; April 11, 2019; 10.1038/s41436-019-0496-z Abstract | Full Text
ADDENDUM
ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors Jill S. Goldman, Susan E. Hahn, Jennifer Williamson Catania, Susan LaRusse-Eckert, Melissa Barber Butson et al. Genetics in Medicine 2019 21 :2404 - 2404; June 19, 2019; 10.1038/s41436-019-0559-1 Abstract | Full Text
ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization James T. Mascarello, Betsy Hirsch, Hutton M. Kearney, Rhett P. Ketterling, Susan B. Olson et al. Genetics in Medicine 2019 21 :2405 - 2405; April 26, 2019; 10.1038/s41436-019-0508-z Abstract | Full Text
CORRECTION
Correction: Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) Ray E. Hershberger, Michael M. Givertz, Carolyn Y. Ho, Daniel P. Judge, Paul F. Kantor et al. Genetics in Medicine 2019 21 :2406 - 2409; May 01, 2019; 10.1038/s41436-019-0521-2 Abstract | Full Text
Correction: Variant classification changes over time in BRCA1 and BRCA2 Chloe Mighton, George S. Charames, Marina Wang, Kathleen-Rose Zakoor, Andrew Wong et al. Genetics in Medicine 2019 21 :2406 - 2407; May 02, 2019; 10.1038/s41436-019-0526-x Abstract | Full Text
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study Hila Milo Rasouly, Julia Wynn, Maddalena Marasa, Rachel Reingold, Debanjana Chatterjee et al. Genetics in Medicine 2019 21 :2407 - 2407; May 01, 2019; 10.1038/s41436-019-0528-8 Abstract | Full Text
Correction: Sequencing as a first-line methodology for cystic fibrosis carrier screening Kyle A. Beauchamp, Katherine A. Johansen Taber, Peter V. Grauman, Lindsay Spurka, Jeraldine Lim-Harashima et al. Genetics in Medicine 2019 21 :2407 - 2408; May 15, 2019; 10.1038/s41436-019-0543-9 Abstract | Full Text
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant et al. Genetics in Medicine 2019 21 :2409 - 2409; May 22, 2019; 10.1038/s41436-019-0553-7 Abstract | Full Text
Correction: SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis Yongjia Yang, Yu Zheng, Wangming Li, Liping Li, Ming Tu et al. Genetics in Medicine 2019 21 :2409 - 2409; June 10, 2019; 10.1038/s41436-019-0578-y Abstract | Full Text
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