Search the collection

584 results for 692/700/139/1512

Sort by:

Sort by

Limit results to:

20 per page

584 results for 692/700/139/1512

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Author / Creator:Kalia, Sarah S. ; Adelman, Kathy ; Bale, Sherri J. ; Chung, Wendy K. ; Eng, Christine ; Evans, James P. ; Herman, Gail E. ; Hufnagel, Sophia B. ; Klein, Teri E. ; Korf, Bruce R. ; McKelvey, Kent D. ; Ormond, Kelly E. ; Richards, C. Sue ; Vlangos, Christopher N. ; Watson, Michael ; Martin, Christa L. ; Miller, David T.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2017-02, Vol.19 (2), p.249-255
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Ultrasensitive and visual detection of SARS-CoV-2 using all-in-one dual CRISPR-Cas12a assay
Author / Creator:Ding, Xiong ; Yin, Kun ; Li, Ziyue ; Lalla, Rajesh V. ; Ballesteros, Enrique ; Sfeir, Maroun M. ; Liu, Changchun
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-09, Vol.11 (1), p.4711-10, Article 4711
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
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 for Molecular Pathol...
Author / Creator: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.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2015-05, Vol.17 (5), p.405-424
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Author / Creator:Kline, Antonie D. ; Moss, Joanna F. ; Selicorni, Angelo ; Bisgaard, Anne-Marie ; Deardorff, Matthew A. ; Gillett, Peter M. ; Ishman, Stacey L. ; Kerr, Lynne M. ; Levin, Alex V. ; Mulder, Paul A. ; Ramos, Feliciano J. ; Wierzba, Jolanta ; Ajmone, Paola Francesca ; Axtell, David ; Blagowidow, Natalie ; Cereda, Anna ; Costantino, Antonella ; Cormier-Daire, Valerie ; FitzPatrick, David ; Grados, Marco ; Groves, Laura ; Guthrie, Whitney ; Huisman, Sylvia ; Kaiser, Frank J. ; Koekkoek, Gerritjan ; Levis, Mary ; Mariani, Milena ; McCleery, Joseph P. ; Menke, Leonie A. ; Metrena, Amy ; O’Connor, Julia ; Oliver, Chris ; Pie, Juan ; Piening, Sigrid ; Potter, Carol J. ; Quaglio, Ana L. ; Redeker, Egbert ; Richman, David ; Rigamonti, Claudia ; Shi, Angell ; Tümer, Zeynep ; Van Balkom, Ingrid D. C. ; Hennekam, Raoul C.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2018-10, Vol.19 (10), p.649-666
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Revealing COVID-19 transmission in Australia by SARS-CoV-2 genome sequencing and agent-based modeling
Author / Creator:Rockett, Rebecca J. ; Arnott, Alicia ; Lam, Connie ; Sadsad, Rosemarie ; Timms, Verlaine ; Gray, Karen-Ann ; Eden, John-Sebastian ; Chang, Sheryl ; Gall, Mailie ; Draper, Jenny ; Sim, Eby M. ; Bachmann, Nathan L. ; Carter, Ian ; Basile, Kerri ; Byun, Roy ; O’Sullivan, Matthew V. ; Chen, Sharon C-A ; Maddocks, Susan ; Sorrell, Tania C. ; Dwyer, Dominic E. ; Holmes, Edward C. ; Kok, Jen ; Prokopenko, Mikhail ; Sintchenko, Vitali
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2020-09, Vol.26 (9), p.1398-1404
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Advances in therapy for spinal muscular atrophy: promises and challenges
Author / Creator:Groen, Ewout J. N. ; Talbot, Kevin ; Gillingwater, Thomas H.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Neurology, 2018-04, Vol.14 (4), p.214-224
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment
Author / Creator:Hampel, Heather ; Bennett, Robin L. ; Buchanan, Adam ; Pearlman, Rachel ; Wiesner, Georgia L.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2015-01, Vol.17 (1), p.70-87
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Artificial-intelligence-based molecular classification of diffuse gliomas using rapid, label-free optical imaging
Author / Creator:Hollon, Todd ; Jiang, Cheng ; Chowdury, Asadur ; Nasir-Moin, Mustafa ; Kondepudi, Akhil ; Aabedi, Alexander ; Adapa, Arjun ; Al-Holou, Wajd ; Heth, Jason ; Sagher, Oren ; Lowenstein, Pedro ; Castro, Maria ; Wadiura, Lisa Irina ; Widhalm, Georg ; Neuschmelting, Volker ; Reinecke, David ; von Spreckelsen, Niklas ; Berger, Mitchel S. ; Hervey-Jumper, Shawn L. ; Golfinos, John G. ; Snuderl, Matija ; Camelo-Piragua, Sandra ; Freudiger, Christian ; Lee, Honglak ; Orringer, Daniel A.
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2023-04, Vol.29 (4), p.828-832
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Author / Creator:Lionel, Anath C ; Costain, Gregory ; Monfared, Nasim ; Walker, Susan ; Reuter, Miriam S ; Hosseini, S Mohsen ; Thiruvahindrapuram, Bhooma ; Merico, Daniele ; Jobling, Rebekah ; Nalpathamkalam, Thomas ; Pellecchia, Giovanna ; Sung, Wilson W L ; Wang, Zhuozhi ; Bikangaga, Peter ; Boelman, Cyrus ; Carter, Melissa T ; Cordeiro, Dawn ; Cytrynbaum, Cheryl ; Dell, Sharon D ; Dhir, Priya ; Dowling, James J ; Heon, Elise ; Hewson, Stacy ; Hiraki, Linda ; Inbar-Feigenberg, Michal ; Klatt, Regan ; Kronick, Jonathan ; Laxer, Ronald M ; Licht, Christoph ; MacDonald, Heather ; Mercimek-Andrews, Saadet ; Mendoza-Londono, Roberto ; Piscione, Tino ; Schneider, Rayfel ; Schulze, Andreas ; Silverman, Earl ; Siriwardena, Komudi ; Snead, O Carter ; Sondheimer, Neal ; Sutherland, Joanne ; Vincent, Ajoy ; Wasserman, Jonathan D ; Weksberg, Rosanna ; Shuman, Cheryl ; Carew, Chris ; Szego, Michael J ; Hayeems, Robin Z ; Basran, Raveen ; Stavropoulos, Dimitri J ; Ray, Peter N ; Bowdin, Sarah ; Meyn, M Stephen ; Cohn, Ronald D ; Scherer, Stephen W ; Marshall, Christian R
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-04, Vol.20 (4), p.435-443
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
Author / Creator:Farwell, Kelly D. ; Shahmirzadi, Layla ; El-Khechen, Dima ; Powis, Zöe ; Chao, Elizabeth C. ; Tippin Davis, Brigette ; Baxter, Ruth M. ; Zeng, Wenqi ; Mroske, Cameron ; Parra, Melissa C. ; Gandomi, Stephanie K. ; Lu, Ira ; Li, Xiang ; Lu, Hong ; Lu, Hsiao-Mei ; Salvador, David ; Ruble, David ; Lao, Monica ; Fischbach, Soren ; Wen, Jennifer ; Lee, Shela ; Elliott, Aaron ; Dunlop, Charles L.M. ; Tang, Sha
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2015-07, Vol.17 (7), p.578-586
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing
Author / Creator:Xue, Yuan ; Ankala, Arunkanth ; Wilcox, William R. ; Hegde, Madhuri R.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2015-06, Vol.17 (6), p.444-451
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Author / Creator:Clark, Michelle M ; Stark, Zornitza ; Farnaes, Lauge ; Tan, Tiong Y ; White, Susan M ; Dimmock, David ; Kingsmore, Stephen F
Publisher:London: Nature Publishing Group
Journal title:Npj genomic medicine, 2018-07, Vol.3, p.1-10
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Author / Creator:Vockley, Jerry ; Andersson, Hans C. ; Antshel, Kevin M. ; Braverman, Nancy E. ; Burton, Barbara K. ; Frazier, Dianne M. ; Mitchell, John ; Smith, Wendy E. ; Thompson, Barry H. ; Berry, Susan A.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2014-02, Vol.16 (2), p.188-200
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Ultrasensitive single-step CRISPR detection of monkeypox virus in minutes with a vest-pocket diagnostic device
Author / Creator:Wang, Yunxiang ; Chen, Hong ; Lin, Kai ; Han, Yongjun ; Gu, Zhixia ; Wei, Hongjuan ; Mu, Kai ; Wang, Dongfeng ; Liu, Liyan ; Jin, Ronghua ; Song, Rui ; Rong, Zhen ; Wang, Shengqi
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-04, Vol.15 (1), p.3279-11, Article 3279
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Sickle cell disease
Author / Creator:Kato, Gregory J. ; Piel, Frédéric B. ; Reid, Clarice D. ; Gaston, Marilyn H. ; Ohene-Frempong, Kwaku ; Krishnamurti, Lakshmanan ; Smith, Wally R. ; Panepinto, Julie A. ; Weatherall, David J. ; Costa, Fernando F. ; Vichinsky, Elliott P.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Disease primers, 2018-03, Vol.4 (1), p.18010, Article 18010
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Fast detection of SARS-CoV-2 RNA via the integration of plasmonic thermocycling and fluorescence detection in a portable device
Author / Creator:Cheong, Jiyong ; Yu, Hojeong ; Lee, Chang Yeol ; Lee, Jung-uk ; Choi, Hyun-Jung ; Lee, Jae-Hyun ; Lee, Hakho ; Cheon, Jinwoo
Publisher:London: Nature Publishing Group UK
Journal title:Nature biomedical engineering, 2020-12, Vol.4 (12), p.1159-1167
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Paraganglioma and phaeochromocytoma: from genetics to personalized medicine
Author / Creator:Favier, Judith ; Amar, Laurence ; Gimenez-Roqueplo, Anne-Paule
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Endocrinology, 2015-02, Vol.11 (2), p.101-111
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
Author / Creator:Alfares, Ahmed A. ; Kelly, Melissa A. ; McDermott, Gregory ; Funke, Birgit H. ; Lebo, Matthew S. ; Baxter, Samantha B. ; Shen, Jun ; McLaughlin, Heather M. ; Clark, Eugene H. ; Babb, Larry J. ; Cox, Stephanie W. ; DePalma, Steven R. ; Ho, Carolyn Y. ; Seidman, J. G. ; Seidman, Christine E. ; Rehm, Heidi L.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2015-11, Vol.17 (11), p.880-888
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Author / Creator:Farnaes, Lauge ; Hildreth, Amber ; Sweeney, Nathaly M ; Clark, Michelle M ; Chowdhury, Shimul ; Nahas, Shareef ; Cakici, Julie A ; Benson, Wendy ; Kaplan, Robert H ; Kronick, Richard ; Bainbridge, Matthew N ; Friedman, Jennifer ; Gold, Jeffrey J ; Ding, Yan ; Veeraraghavan, Narayanan ; Dimmock, David ; Kingsmore, Stephen F
Publisher:London: Nature Publishing Group
Journal title:Npj genomic medicine, 2018-04, Vol.3, p.1-8
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance
Author / Creator:Yang, Hui ; Garcia-Manero, Guillermo ; Sasaki, Koji ; Montalban-Bravo, Guillermo ; Tang, Zhenya ; Wei, Yue ; Kadia, Tapan ; Chien, Kelly ; Rush, Diana ; Nguyen, Ha ; Kalia, Awdesh ; Nimmakayalu, Manjunath ; Bueso-Ramos, Carlos ; Kantarjian, Hagop ; Medeiros, L. Jeffrey ; Luthra, Rajyalakshmi ; Kanagal-Shamanna, Rashmi
Publisher:London: Nature Publishing Group
Journal title:Leukemia, 2022-09, Vol.36 (9), p.2306-2316
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 584 results

Export record to excel

Export this record

Export record to excel

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Export this record

Export record to excel

Ultrasensitive and visual detection of SARS-CoV-2 using all-in-one dual CRISPR-Cas12a assay

Export this record

Export record to excel

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 for Molecular Pathol...

Export this record

Export record to excel

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Export this record

Export record to excel

Revealing COVID-19 transmission in Australia by SARS-CoV-2 genome sequencing and agent-based modeling

Export this record

Export record to excel

Advances in therapy for spinal muscular atrophy: promises and challenges

Export this record

Export record to excel

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Export this record

Export record to excel

Artificial-intelligence-based molecular classification of diffuse gliomas using rapid, label-free optical imaging

Export this record

Export record to excel

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Export this record

Export record to excel

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Export this record

Export record to excel

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

Export this record

Export record to excel

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Export this record

Export record to excel

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Export this record

Export record to excel

Ultrasensitive single-step CRISPR detection of monkeypox virus in minutes with a vest-pocket diagnostic device

Export this record

Export record to excel

Sickle cell disease

Export this record

Export record to excel

Fast detection of SARS-CoV-2 RNA via the integration of plasmonic thermocycling and fluorescence detection in a portable device

Export this record

Export record to excel

Paraganglioma and phaeochromocytoma: from genetics to personalized medicine

Export this record

Export record to excel

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Export this record

Export record to excel

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Export this record

Export record to excel

High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance

Refine your search