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	1.	The ACMG/AMP reputable source criteria for the interpretation of sequence variants. [electronic resource] by Biesecker, Leslie G Harrison, Steven M Producer: 20190218 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar. [electronic resource] by Harrison, Steven M Rehm, Heidi L Producer: 20200420 In: Genome medicine vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	DNA copy number variations in patients with persistent cloaca. [electronic resource] by Harrison, Steven M Seideman, Casey Baker, Linda A Producer: 20140612 In: The Journal of urology vol. 191 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	ClinVar Is a Critical Resource to Advance Variant Interpretation. [electronic resource] by Rehm, Heidi L Harrison, Steven M Martin, Christa L Producer: 20180725 In: The oncologist vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines. [electronic resource] by Harrison, Steven M Biesecker, Leslie G Rehm, Heidi L Producer: 20200515 In: Current protocols in human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Updated recommendation for the benign stand-alone ACMG/AMP criterion. [electronic resource] by Ghosh, Rajarshi Harrison, Steven M Rehm, Heidi L Plon, Sharon E Biesecker, Leslie G Producer: 20190820 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	DNA copy number variations in patients with 46,XY disorders of sex development. [electronic resource] by Harrison, Steven M Granberg, Candace F Keays, Melise Hill, Martinez Grimsby, Gwen M Baker, Linda A Producer: 20150204 In: The Journal of urology vol. 192 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Genetic basis of prune belly syndrome: screening for HNF1β gene. [electronic resource] by Granberg, Candace F Harrison, Steven M Dajusta, Daniel Zhang, Shaohua Hajarnis, Sachin Igarashi, Peter Baker, Linda A Producer: 20120831 In: The Journal of urology vol. 187 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. [electronic resource] by Abou Tayoun, Ahmad N Pesaran, Tina DiStefano, Marina T Oza, Andrea Rehm, Heidi L Biesecker, Leslie G Harrison, Steven M Producer: 20190820 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement. [electronic resource] by Niehaus, Annie Azzariti, Danielle R Harrison, Steven M DiStefano, Marina T Hemphill, Sarah E Senol-Cosar, Ozlem Rehm, Heidi L Producer: 20191008 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. [electronic resource] by Tavtigian, Sean V Greenblatt, Marc S Harrison, Steven M Nussbaum, Robert L Prabhu, Snehit A Boucher, Kenneth M Biesecker, Leslie G Producer: 20190201 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Genetic abnormalities in FOXP1 are associated with congenital heart defects. [electronic resource] by Chang, Sheng-Wei Mislankar, Mona Misra, Chaitali Huang, Nianyuan Dajusta, Daniel G Harrison, Steven M McBride, Kim L Baker, Linda A Garg, Vidu Producer: 20140228 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data. [electronic resource] by Henrie, Alex Hemphill, Sarah E Ruiz-Schultz, Nicole Cushman, Brandon DiStefano, Marina T Azzariti, Danielle Harrison, Steven M Rehm, Heidi L Eilbeck, Karen Producer: 20190715 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Insulin-Like Peptide 3 (INSL3) Serum Concentration During Human Male Fetal Life. [electronic resource] by Harrison, Steven M Bush, Nicol Corbin Wang, Yi Mucher, Zachary R Lorenzo, Armando J Grimsby, Gwen M Schlomer, Bruce J Büllesbach, Erika E Baker, Linda A Publication details: Frontiers in endocrinology 2019 In: Frontiers in endocrinology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. [electronic resource] by Harrison, Steven M Dolinsky, Jill S Knight Johnson, Amy E Pesaran, Tina Azzariti, Danielle R Bale, Sherri Chao, Elizabeth C Das, Soma Vincent, Lisa Rehm, Heidi L Producer: 20180604 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. [electronic resource] by Harrison, Steven M Campbell, Ian M Keays, Melise Granberg, Candace F Villanueva, Carlos Tannin, Grace Zinn, Andrew R Castrillon, Diego H Shaw, Chad A Stankiewicz, Pawel Baker, Linda A Producer: 20140515 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Using ClinVar as a Resource to Support Variant Interpretation. [electronic resource] by Harrison, Steven M Riggs, Erin R Maglott, Donna R Lee, Jennifer M Azzariti, Danielle R Niehaus, Annie Ramos, Erin M Martin, Christa L Landrum, Melissa J Rehm, Heidi L Producer: 20161213 In: Current protocols in human genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. [electronic resource] by Gauthier, Julie Ouled Amar Bencheikh, Bouchra Hamdan, Fadi F Harrison, Steven M Baker, Linda A Couture, Françoise Thiffault, Isabelle Ouazzani, Reda Samuels, Mark E Mitchell, Grant A Rouleau, Guy A Michaud, Jacques L Soucy, Jean-François Producer: 20160524 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene. [electronic resource] by Iqbal, Nida S Jascur, Thomas A Harrison, Steven M Edwards, Angelena B Smith, Luke T Choi, Erin S Arevalo, Michelle K Chen, Catherine Zhang, Shaohua Kern, Adam J Scheuerle, Angela E Sanchez, Emma J Xing, Chao Baker, Linda A Producer: 20200303 In: BMC medical genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. [electronic resource] by Brnich, Sarah E Abou Tayoun, Ahmad N Couch, Fergus J Cutting, Garry R Greenblatt, Marc S Heinen, Christopher D Kanavy, Dona M Luo, Xi McNulty, Shannon M Starita, Lea M Tavtigian, Sean V Wright, Matt W Harrison, Steven M Biesecker, Leslie G Berg, Jonathan S Producer: 20200514 In: Genome medicine vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 26 results.