Literature DB >> 11252712

Tandem mass spectrometry in newborn screening. American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group.

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Year:  2000        PMID： 11252712     DOI： 10.1097/00125817-200007000-00011

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  8 in total

1.  Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.

Authors:  Robin L Bennett; Arno G Motulsky; Alan Bittles; Louanne Hudgins; Stefanie Uhrich; Debra Lochner Doyle; Kerry Silvey; C Ronald Scott; Edith Cheng; Barbara McGillivray; Robert D Steiner; Debra Olson
Journal:  J Genet Couns       Date:  2002-04       Impact factor: 2.537

2.  Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing.

Authors:  Barbka Repič Lampret; Žiga Iztok Remec; Ana Drole Torkar; Mojca Žerjav Tanšek; Andraz Šmon; Vanesa Koračin; Vanja Čuk; Daša Perko; Blanka Ulaga; Ana Marija Jelovšek; Maruša Debeljak; Jernej Kovač; Tadej Battelino; Urh Grošelj
Journal:  Zdr Varst       Date:  2020-10-18

3.  Genetic counseling throughout the life cycle.

Authors:  Leslie J Ciarleglio; Robin L Bennett; Jennifer Williamson; Jessica B Mandell; Joan H Marks
Journal:  J Clin Invest       Date:  2003-11       Impact factor: 14.808

4.  Technology challenges in screening single gene disorders.

Authors:  Andreas Braun; Richard Roth; Matthew J McGinniss
Journal:  Eur J Pediatr       Date:  2003-10-23       Impact factor: 3.183

5.  Perinatal Screening for Congenital Malformations and Genetic Disorders: Current Status and Future Directions.

Authors:  Harold N Bass; Jamie Beavers Taylor
Journal:  Perm J       Date:  2002

6.  Targeted next generation sequencing for newborn screening of Menkes disease.

Authors:  Richard B Parad; Stephen G Kaler; Evan Mauceli; Tanya Sokolsky; Ling Yi; Arindam Bhattacharjee
Journal:  Mol Genet Metab Rep       Date:  2020-07-21

7.  Genetic Diagnosis in a Cohort of Adult Patients with Inherited Metabolic Diseases: A Single-Center Experience.

Authors:  Livia Lenzini; Gianni Carraro; Angelo Avogaro; Nicola Vitturi
Journal:  Biomolecules       Date:  2022-06-30

8.  The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine.

Authors:  Hong Li; Lihua Zhao; Rani Singh; J Nina Ham; Doris O Fadoju; Lora J H Bean; Yan Zhang; Yong Xu; H Eric Xu; Michael J Gambello
Journal:  Mol Genet Metab Rep       Date:  2018-10-02
  8 in total

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