Literature DB >> 35538188

No gene to predict the future?

Alisdair McNeill1,2.   

Abstract

Entities:  

Year:  2022        PMID： 35538188      PMCID： PMC9091269          DOI： 10.1038/s41431-022-01101-1

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   5.351


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  14 in total

1.  Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findings.

Authors:  Agnes Sebastian; June C Carroll; Meredith Vanstone; Marc Clausen; Rita Kodida; Emma Reble; Chloe Mighton; Salma Shickh; Melyssa Aronson; Andrea Eisen; Christine Elser; Jordan Lerner-Ellis; Raymond H Kim; Yvonne Bombard
Journal:  Eur J Hum Genet       Date:  2021-03-29       Impact factor: 5.351

2.  Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility.

Authors:  Shushu Zhou; Huan Wu; Jintao Zhang; Xiaojin He; Siyu Liu; Ping Zhou; Rong Hua; Yunxia Cao; Mingxi Liu
Journal:  Eur J Hum Genet       Date:  2022-04-07       Impact factor: 5.351

3.  Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.

Authors:  Miriam S Reuter; Michael Zech; Maja Hempel; Janine Altmüller; Tracy Heung; Laura Pölsler; René Santer; Holger Thiele; Brett Trost; Christian Kubisch; Stephen W Scherer; Sabine Rudnik-Schöneborn; Anne S Bassett; Davor Lessel
Journal:  Eur J Hum Genet       Date:  2022-03-18       Impact factor: 5.351

4.  An analysis of genetically regulated gene expression and the role of co-expression networks across 16 psychiatric and substance use phenotypes.

Authors:  Zachary F Gerring; Jackson G Thorp; Eric R Gamazon; Eske M Derks
Journal:  Eur J Hum Genet       Date:  2022-02-25       Impact factor: 5.351

5.  Genetic diagnosis for rare diseases in the Dutch Caribbean: a qualitative study on the experiences and associated needs of parents.

Authors:  Eline A Verberne; Lieke M van den Heuvel; Maria Ponson-Wever; Maartje de Vroomen; Meindert E Manshande; Sonja Faries; Ginette M Ecury-Goossen; Lidewij Henneman; Mieke M van Haelst
Journal:  Eur J Hum Genet       Date:  2022-01-28       Impact factor: 5.351

6.  Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia.

Authors:  Restuadi Restuadi; Fleur C Garton; Beben Benyamin; Tian Lin; Kelly L Williams; Anna Vinkhuyzen; Wouter van Rheenen; Zhihong Zhu; Nigel G Laing; Karen A Mather; Perminder S Sachdev; Shyuan T Ngo; Frederik J Steyn; Leanne Wallace; Anjali K Henders; Peter M Visscher; Merrilee Needham; Susan Mathers; Garth Nicholson; Dominic B Rowe; Robert D Henderson; Pamela A McCombe; Roger Pamphlett; Ian P Blair; Naomi R Wray; Allan F McRae
Journal:  Eur J Hum Genet       Date:  2021-04-27       Impact factor: 5.351

7.  A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.

Authors:  Elisa Rahikkala; Lea Urpa; Bishwa Ghimire; Hande Topa; Mitja I Kurki; Maryna Koskela; Mikko Airavaara; Eija Hämäläinen; Katri Pylkäs; Jarmo Körkkö; Helena Savolainen; Anu Suoranta; Aida Bertoli-Avella; Arndt Rolfs; Pirkko Mattila; Mark Daly; Aarno Palotie; Olli Pietiläinen; Jukka Moilanen; Outi Kuismin
Journal:  Eur J Hum Genet       Date:  2022-01-28       Impact factor: 5.351

8.  Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study.

Authors:  Michelle Peter; Jennifer Hammond; Melissa Hill; Celine Lewis; Saskia C Sanderson; Jana Gurasashvili; Amy Hunter; Beverly Searle; Christine Patch; Lyn S Chitty
Journal:  Eur J Hum Genet       Date:  2022-03-09       Impact factor: 5.351

Review 9.  Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research.

Authors:  Faye Johnson; Fiona Ulph; Rhona MacLeod; Kevin W Southern
Journal:  Eur J Hum Genet       Date:  2022-03-08       Impact factor: 5.351

10.  A summary-statistics-based approach to examine the role of serotonin transporter promoter tandem repeat polymorphism in psychiatric phenotypes.

Authors:  Arunabha Majumdar; Preksha Patel; Bogdan Pasaniuc; Roel A Ophoff
Journal:  Eur J Hum Genet       Date:  2021-12-23       Impact factor: 5.351
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