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Literature DB >> 27787501

The need for a next-generation public health response to rare diseases.

Rodolfo Valdez¹, Scott D Grosse¹, Muin J Khoury².

Abstract

Entities: Chemical

Mesh：

Year: 2016 PMID： 27787501 PMCID： PMC5547019 DOI： 10.1038/gim.2016.166

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

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10 in total

1. A public health framework for rare blood disorders.

Authors: Scott D Grosse; Andra H James; Michele A Lloyd-Puryear; Hani K Atrash
Journal: Am J Prev Med Date: 2011-12 Impact factor: 5.043

Review 2. National plans and strategies on rare diseases in Europe.

Authors: Domenica Taruscio; Luciano Vittozzi; Rumen Stefanov
Journal: Adv Exp Med Biol Date: 2010 Impact factor: 2.622

3. From public health emergency to public health service: the implications of evolving criteria for newborn screening panels.

Authors: Scott D Grosse; Coleen A Boyle; Aileen Kenneson; Muin J Khoury; Benjamin S Wilfond
Journal: Pediatrics Date: 2006-03 Impact factor: 7.124

Review 4. Advocacy groups and their role in rare diseases research.

Authors: Mary Dunkle; Wayne Pines; Peter L Saltonstall
Journal: Adv Exp Med Biol Date: 2010 Impact factor: 2.622

5. Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study.

Authors: P W Yoon; R S Olney; M J Khoury; W M Sappenfield; G F Chavez; D Taylor
Journal: Arch Pediatr Adolesc Med Date: 1997-11

6. The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Authors: William A Gahl; John J Mulvihill; Camilo Toro; Thomas C Markello; Anastasia L Wise; Rachel B Ramoni; David R Adams; Cynthia J Tifft
Journal: Mol Genet Metab Date: 2016-01-22 Impact factor: 4.797

7. Analysis of protein-coding genetic variation in 60,706 humans.

Authors: Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal: Nature Date: 2016-08-18 Impact factor: 49.962

Review 8. Access to Orphan Drugs: A Comprehensive Review of Legislations, Regulations and Policies in 35 Countries.

Authors: Todd Gammie; Christine Y Lu; Zaheer Ud-Din Babar
Journal: PLoS One Date: 2015-10-09 Impact factor: 3.240

9. Public Health and Rare Diseases: Oxymoron No More.

Authors: Rodolfo Valdez; Lijing Ouyang; Julie Bolen
Journal: Prev Chronic Dis Date: 2016-01-14 Impact factor: 2.830

10. The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.

Authors: Caroline E Walker; Trinity Mahede; Geoff Davis; Laura J Miller; Jennifer Girschik; Kate Brameld; Wenxing Sun; Ana Rath; Ségolène Aymé; Stephen R Zubrick; Gareth S Baynam; Caron Molster; Hugh J S Dawkins; Tarun S Weeramanthri
Journal: Genet Med Date: 2016-09-22 Impact factor: 8.822

10 in total

8 in total

1. 30-day all-cause readmission rates among a cohort of individuals with rare conditions.

Authors: Kevin J Bennett; Joshua R Mann; Lijing Ouyang
Journal: Disabil Health J Date: 2018-09-12 Impact factor: 2.554

2. Clinical application of whole-exome sequencing: A retrospective, single-center study.

Authors: Qiang Zhang; Zailong Qin; Shang Yi; Hao Wei; Xun Zhao Zhou; Jiasun Su
Journal: Exp Ther Med Date: 2021-05-12 Impact factor: 2.447

3. Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia.

Authors: Jenny Bourke; Kingsley Wong; Helen Leonard
Journal: BMJ Open Date: 2018-01-23 Impact factor: 2.692