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Πέμπτη 3 Οκτωβρίου 2019

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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