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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 40
1995 1
1998 1
1999 2
2000 16
2001 4
2002 3
2003 10
2004 3
2005 3
2006 6
2007 6
2008 7
2009 15
2010 6
2011 5
2012 9
2013 14
2014 30
2015 40
2016 66
2017 75
2018 89
2019 96
2020 118
2021 151
2022 67
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687 results
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Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler MG, Miller JL, Forster JL. Butler MG, et al. Curr Pediatr Rev. 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. Curr Pediatr Rev. 2019. PMID: 31333129 Free PMC article. Review.
This report will describe an accurate diagnosis with determination of specific genetic subtypes, appropriate medical management and best practice treatment approaches. ...A searchable, bulleted and formatted list of topics is provided utilizing a Table of Contents a …
This report will describe an accurate diagnosis with determination of specific genetic subtypes, appropriate medical management
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K, Stark Z, Kerr PG, Gaff C, Martyn M, Whitlam J, Creighton B, Donaldson E, Hunter M, Jarmolowicz A, Johnstone L, Krzesinski E, Lunke S, Lynch E, Nicholls K, Patel C, Prawer Y, Ryan J, See EJ, Talbot A, Trainer A, Tytherleigh R, Valente G, Wallis M, Wardrop L, West KH, White SM, Wilkins E, Mallett AJ, Quinlan C. Jayasinghe K, et al. Genet Med. 2021 Jan;23(1):183-191. doi: 10.1038/s41436-020-00963-4. Epub 2020 Sep 17. Genet Med. 2021. PMID: 32939031 Free PMC article.
PURPOSE: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. ...Cascade testing was subsequently offered to 40/80 families (50%). CONCLUSION: In this pragmatic pediatric an …
PURPOSE: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney …
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, Massingham LJ, Miller D, Yu TW, Hisama FM; ACMG Board of Directors. Manickam K, et al. Genet Med. 2021 Nov;23(11):2029-2037. doi: 10.1038/s41436-021-01242-6. Epub 2021 Jul 1. Genet Med. 2021. PMID: 34211152
PURPOSE: To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or int …
PURPOSE: To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF; RCIGM Investigators. Dimmock DP, et al. Am J Hum Genet. 2020 Nov 5;107(5):942-952. doi: 10.1016/j.ajhg.2020.10.003. Am J Hum Genet. 2020. PMID: 33157007 Free PMC article. Clinical Trial.
The second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing (rWGS) or rapid whole-exome sequencing (rWES) in infants with diseases of unknown etiology in intensive care units …
The second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study was a randomized, controlled trial of rapid whole …
Diagnosis and Management of Beckwith-Wiedemann Syndrome.
Wang KH, Kupa J, Duffy KA, Kalish JM. Wang KH, et al. Front Pediatr. 2020 Jan 21;7:562. doi: 10.3389/fped.2019.00562. eCollection 2019. Front Pediatr. 2020. PMID: 32039119 Free PMC article. Review.
Here we review strategies for diagnosing and managing BWS and delineate commonly used genetic tests to establish a molecular diagnosis of BWS. ...Tissue mosaicism can occur in patients with BWS, posing a challenge for genetic testing, and a negative te …
Here we review strategies for diagnosing and managing BWS and delineate commonly used genetic tests to establish a molecular d …
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, Cozma C, Bauer P, Rolfs A. Cheema H, et al. NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020. NPJ Genom Med. 2020. PMID: 33083013 Free PMC article.
Local physicians ascertained pediatric patients who had no previous access to genetic testing. More than 1586 genetic tests were performed in 1019 individuals (349 index cases, 670 relatives). ...The high diagnostic yield, clinical impact, and r …
Local physicians ascertained pediatric patients who had no previous access to genetic testing. More than 1586 geneti
Williams Syndrome.
Morris CA. Morris CA. 1999 Apr 9 [updated 2017 Mar 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 1999 Apr 9 [updated 2017 Mar 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301427 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability
CLINICAL CHARACTERISTICS: Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral
MECP2 Disorders.
Kaur S, Christodoulou J. Kaur S, et al. 2001 Oct 3 [updated 2019 Sep 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2001 Oct 3 [updated 2019 Sep 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301670 Free Books & Documents. Review.
Death often occurs before age two years. DIAGNOSIS/TESTING: The diagnosis of a MECP2 disorder is established by molecular genetic testing in a female proband with suggestive findings and a heterozygous MECP2 pathogenic variant, and in a male proband with sugg …
Death often occurs before age two years. DIAGNOSIS/TESTING: The diagnosis of a MECP2 disorder is established by molecular genetic
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.
In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. ...We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features sug …
In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the l …
Best practices for variant calling in clinical sequencing.
Koboldt DC. Koboldt DC. Genome Med. 2020 Oct 26;12(1):91. doi: 10.1186/s13073-020-00791-w. Genome Med. 2020. PMID: 33106175 Free PMC article. Review.
Next-generation sequencing technologies have enabled a dramatic expansion of clinical genetic testing both for inherited conditions and diseases such as cancer. ...Just as NGS technologies have evolved considerably over the past 10 years, so too have the soft …
Next-generation sequencing technologies have enabled a dramatic expansion of clinical genetic testing both for inherite …
687 results