Literature DB >> 34498254

Clinical translation of hidradenitis suppurativa genetic studies requires global collaboration.

A J Jabbour1, K R van Straalen2,3, A Colvin4, E P Prens2,3, L Petukhova5,6.   

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Year:  2021        PMID： 34498254      PMCID： PMC8738108          DOI： 10.1111/bjd.20749

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  10 in total

1.  Precision medicine in 2030-seven ways to transform healthcare.

Authors:  Joshua C Denny; Francis S Collins
Journal:  Cell       Date:  2021-03-18       Impact factor: 41.582

2.  NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.

Authors:  Mary B Daly; Robert Pilarski; Matthew B Yurgelun; Michael P Berry; Saundra S Buys; Patricia Dickson; Susan M Domchek; Ahmed Elkhanany; Susan Friedman; Judy E Garber; Michael Goggins; Mollie L Hutton; Seema Khan; Catherine Klein; Wendy Kohlmann; Allison W Kurian; Christine Laronga; Jennifer K Litton; Julie S Mak; Carolyn S Menendez; Sofia D Merajver; Barbara S Norquist; Kenneth Offit; Tuya Pal; Holly J Pederson; Gwen Reiser; Kristen Mahoney Shannon; Kala Visvanathan; Jeffrey N Weitzel; Myra J Wick; Kari B Wisinski; Mary A Dwyer; Susan D Darlow
Journal:  J Natl Compr Canc Netw       Date:  2020-04       Impact factor: 11.908

3.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

Review 4.  An Imperative Need for Further Genetic Studies of Alopecia Areata.

Authors:  Lynn Petukhova
Journal:  J Investig Dermatol Symp Proc       Date:  2020-11

5.  Contribution of Genetics to the Susceptibility to Hidradenitis Suppurativa in a Large, Cross-sectional Dutch Twin Cohort.

Authors:  Kelsey R van Straalen; Errol P Prens; Gonneke Willemsen; Dorret I Boomsma; H H van der Zee
Journal:  JAMA Dermatol       Date:  2020-12-01       Impact factor: 10.282

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

7.  Guidelines for investigating causality of sequence variants in human disease.

Authors:  D G MacArthur; T A Manolio; D P Dimmock; H L Rehm; J Shendure; G R Abecasis; D R Adams; R B Altman; S E Antonarakis; E A Ashley; J C Barrett; L G Biesecker; D F Conrad; G M Cooper; N J Cox; M J Daly; M B Gerstein; D B Goldstein; J N Hirschhorn; S M Leal; L A Pennacchio; J A Stamatoyannopoulos; S R Sunyaev; D Valle; B F Voight; W Winckler; C Gunter
Journal:  Nature       Date:  2014-04-24       Impact factor: 49.962

8.  Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine.

Authors:  Slavé Petrovski; David B Goldstein
Journal:  Genome Biol       Date:  2016-07-14       Impact factor: 13.583

Review 9.  The influence of evolutionary history on human health and disease.

Authors:  Mary Lauren Benton; Abin Abraham; Abigail L LaBella; Patrick Abbot; Antonis Rokas; John A Capra
Journal:  Nat Rev Genet       Date:  2021-01-06       Impact factor: 53.242

Review 10.  Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.

Authors:  Joseph D Szustakowski; Suganthi Balasubramanian; Erika Kvikstad; Shareef Khalid; Paola G Bronson; Ariella Sasson; Emily Wong; Daren Liu; J Wade Davis; Carolina Haefliger; A Katrina Loomis; Rajesh Mikkilineni; Hyun Ji Noh; Samir Wadhawan; Xiaodong Bai; Alicia Hawes; Olga Krasheninina; Ricardo Ulloa; Alex E Lopez; Erin N Smith; Jeffrey F Waring; Christopher D Whelan; Ellen A Tsai; John D Overton; William J Salerno; Howard Jacob; Sandor Szalma; Heiko Runz; Gregory Hinkle; Paul Nioi; Slavé Petrovski; Melissa R Miller; Aris Baras; Lyndon J Mitnaul; Jeffrey G Reid
Journal:  Nat Genet       Date:  2021-06-28       Impact factor: 38.330
  10 in total
  2 in total

Review 1.  The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.

Authors:  Nikolai Paul Pace; Dillon Mintoff; Isabella Borg
Journal:  Front Genet       Date:  2022-03-23       Impact factor: 4.599

2.  Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa-An in-silico study.

Authors:  Dillon Mintoff; Nikolai P Pace; Isabella Borg
Journal:  Front Genet       Date:  2022-09-02       Impact factor: 4.772
  2 in total

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