Search | VHL CLAP/WR-PAHO/WHO

1.

Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences.

Ramdaney, Aarti; Lichten, Lauren; Propst, Lauren; Mann, Caitlin; Lazarin, Gabriel A; Jones, Malorie; Taylor, Amy; Malinowski, Jennifer.

J Genet Couns ; 31(4): 937-948, 2022 08.

Article in English | MEDLINE | ID: mdl-35212439

2.

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.

Arjunan, Aishwarya; Bellerose, Holly; Torres, Raul; Ben-Shachar, Rotem; Hoffman, Jodi D; Angle, Brad; Slotnick, Robert Nathan; Simpson, Brittany N; Lewis, Andrea M; Magoulas, Pilar L; Bontempo, Kelly; Schulze, Jeanine; Tarpinian, Jennifer; Bucher, Jessica A; Dineen, Richard; Goetsch, Allison; Lazarin, Gabriel A; Johansen Taber, Katherine.

Prenat Diagn ; 40(10): 1246-1257, 2020 09.

Article in English | MEDLINE | ID: mdl-32474937

3.

Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management.

Arjunan, Aishwarya; Ben-Shachar, Rotem; Kostialik, Jamie; Johansen Taber, Katherine; Lazarin, Gabriel A; Denne, Elizabeth; Muzzey, Dale; Haverty, Carrie.

Telemed J E Health ; 26(1): 8-17, 2020 01.

Article in English | MEDLINE | ID: mdl-30807262

4.

Clinical utility of expanded carrier screening: results-guided actionability and outcomes.

Johansen Taber, Katherine A; Beauchamp, Kyle A; Lazarin, Gabriel A; Muzzey, Dale; Arjunan, Aishwarya; Goldberg, James D.

Genet Med ; 21(5): 1041-1048, 2019 05.

Article in English | MEDLINE | ID: mdl-30310157

5.

Systematic design and comparison of expanded carrier screening panels.

Beauchamp, Kyle A; Muzzey, Dale; Wong, Kenny K; Hogan, Gregory J; Karimi, Kambiz; Candille, Sophie I; Mehta, Nikita; Mar-Heyming, Rebecca; Kaseniit, K Eerik; Kang, H Peter; Evans, Eric A; Goldberg, James D; Lazarin, Gabriel A; Haque, Imran S.

Genet Med ; 20(1): 55-63, 2018 Jan.

Article in English | MEDLINE | ID: mdl-28640244

6.

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples.

Ghiossi, Caroline E; Goldberg, James D; Haque, Imran S; Lazarin, Gabriel A; Wong, Kenny K.

J Genet Couns ; 27(3): 616-625, 2018 06.

Article in English | MEDLINE | ID: mdl-28956228

7.

Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Lazarin, Gabriel A; Haque, Imran S; Evans, Eric A; Goldberg, James D.

Prenat Diagn ; 37(4): 350-355, 2017 Apr.

Article in English | MEDLINE | ID: mdl-28166604

8.

Current controversies in traditional and expanded carrier screening.

Lazarin, Gabriel A; Goldberg, James D.

Curr Opin Obstet Gynecol ; 28(2): 136-41, 2016 Apr.

Article in English | MEDLINE | ID: mdl-26844860

9.

Genetic Counselors' Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability.

Lazarin, Gabriel A; Detweiler, Stacey; Nazareth, Shivani B; Ashkinadze, Elena.

J Genet Couns ; 25(2): 395-404, 2016 Apr.

Article in English | MEDLINE | ID: mdl-26354338

10.

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.

Haque, Imran S; Lazarin, Gabriel A; Kang, H Peter; Evans, Eric A; Goldberg, James D; Wapner, Ronald J.

JAMA ; 316(7): 734-42, 2016 Aug 16.

Article in English | MEDLINE | ID: mdl-27533158

11.

Changing trends in carrier screening for genetic disease in the United States.

Nazareth, Shivani B; Lazarin, Gabriel A; Goldberg, James D.

Prenat Diagn ; 35(10): 931-5, 2015 Oct.

Article in English | MEDLINE | ID: mdl-26138560

12.

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Lazarin, Gabriel A; Haque, Imran S; Nazareth, Shivani; Iori, Kevin; Patterson, A Scott; Jacobson, Jessica L; Marshall, John R; Seltzer, William K; Patrizio, Pasquale; Evans, Eric A; Srinivasan, Balaji S.

Genet Med ; 15(3): 178-86, 2013 Mar.

Article in English | MEDLINE | ID: mdl-22975760

13.

Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.

Silver, Ari; Lazarin, Gabriel A; Silver, Maxwell; Miller, Meghan; Jansen, Michael; Wechsberg, Christine; Dekanek, Erin; Grossfeld, Stav; Herpel, Tim; Gunatilake, Dinura; Bisignano, Alexander; Jaremko, Malgorzata.

J Pers Med ; 12(5)2022 Apr 21.

Article in English | MEDLINE | ID: mdl-35629091

14.

Prenatal Carrier Screening.

Haque, Imran S; Lazarin, Gabriel A; Wapner, Ronald J.

JAMA ; 316(24): 2675-2676, 2016 12 27.

Article in English | MEDLINE | ID: mdl-28027359

15.

Response to Stoll and Resta.

Lazarin, Gabriel A; Haque, Imran S; Nazareth, Shivani; Evans, Eric A.

Genet Med ; 15(4): 319-20, 2013 Apr.

Article in English | MEDLINE | ID: mdl-23552454

16.

Inherited Cancer in the Age of Next-Generation Sequencing.

Price, Kristin S; Svenson, Ashley; King, Elisabeth; Ready, Kaylene; Lazarin, Gabriel A.

Biol Res Nurs ; 20(2): 192-204, 2018 03.

Article in English | MEDLINE | ID: mdl-29325452

17.

Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test.

Lacassie, Yves; Storment, John M; Lazarin, Gabriel A.

Am J Med Genet A ; 155A(12): 3136-8, 2011 Dec.

Article in English | MEDLINE | ID: mdl-22052783

18.

Expanded carrier screening: A review of early implementation and literature.

Lazarin, Gabriel A; Haque, Imran S.

Semin Perinatol ; 40(1): 29-34, 2016 Feb.

Article in English | MEDLINE | ID: mdl-26718446

19.

Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.

Mehta, Nikita; Lazarin, Gabriel A; Spiegel, Erica; Berentsen, Kathleen; Brennan, Kelly; Giordano, Jessica; Haque, Imran S; Wapner, Ronald.

Genet Test Mol Biomarkers ; 20(9): 504-9, 2016 Sep.

Article in English | MEDLINE | ID: mdl-27362553

20.

Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels.

Lazarin, Gabriel A; Hawthorne, Felicia; Collins, Nicholas S; Platt, Elizabeth A; Evans, Eric A; Haque, Imran S.

PLoS One ; 9(12): e114391, 2014.

Article in English | MEDLINE | ID: mdl-25494330

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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