Literature DB >> 34848842

Genomics elucidates both common and rare disease aetiology.

Alisdair McNeill1,2.   

Abstract

Entities:  

Mesh：

Year:  2021        PMID： 34848842      PMCID： PMC8633017          DOI： 10.1038/s41431-021-01001-w

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  14 in total

1.  The value of studying rare genetic variants and other emerging themes in neurogenetics.

Authors:  Bryan J Traynor; Rebecca F Gottesman
Journal:  Brain       Date:  2021-10-22       Impact factor: 13.501

2.  Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease.

Authors:  Clive Hoggart; Chisato Shimizu; Jane C Burns; Michael Levin; Rachel Galassini; Victoria J Wright; Hannah Shailes; Evan Bellos; Jethro A Herberg; Andrew J Pollard; Daniel O'Connor; Shing Wan Choi; Eleanor G Seaby; Stephanie Menikou; Martin Hibberd; Neneh Sallah; David Burgner; Paul Brogan; Harsita Patel; Jihoon Kim; Adriana H Tremoulet; Eeva Salo; Diana van Stijn; Taco Kuijpers
Journal:  Eur J Hum Genet       Date:  2021-03-26       Impact factor: 4.246

3.  Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.

Authors:  Erik Fransen; Hanne Valgaeren; Katleen Janssens; Manou Sommen; Raphael De Ridder; Geert Vandeweyer; Luigi Bisceglia; Vincent Soler; Alexander Hoischen; Geert Mortier; François Malecaze; Carina Koppen; Guy Van Camp
Journal:  Eur J Hum Genet       Date:  2021-03-19       Impact factor: 4.246

4.  Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.

Authors:  Hubert J M Smeets; Mike Gerards; Le Guo; Bob P H Engelen; Irene M G M Hemel; Irenaeus F M de Coo; Maaike Vreeburg; Suzanne C E H Sallevelt; Debby M E I Hellebrekers; Ed H Jacobs; Farah Sadeghi-Niaraki; Florence H J van Tienen
Journal:  Eur J Hum Genet       Date:  2021-08-23       Impact factor: 4.246

Review 5.  Genetics of diaphragmatic hernia.

Authors:  Yannick Schreiner; Thomas Schaible; Neysan Rafat
Journal:  Eur J Hum Genet       Date:  2021-10-08       Impact factor: 4.246

6.  The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Authors:  Ivo F A C Fokkema; Mark Kroon; Julia A López Hernández; Daan Asscheman; Ivar Lugtenburg; Jerry Hoogenboom; Johan T den Dunnen
Journal:  Eur J Hum Genet       Date:  2021-09-15       Impact factor: 5.351

7.  Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

Authors:  Run Fridriksdottir; Arnar J Jonsson; Brynjar O Jensson; Kristinn O Sverrisson; Gudny A Arnadottir; Sigurbjorg J Skarphedinsdottir; Hildigunnur Katrinardottir; Steinunn Snaebjornsdottir; Hakon Jonsson; Ogmundur Eiriksson; Gudjon R Oskarsson; Asmundur Oddsson; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Gisli H Sigurdsson; Einar P Indridason; Stefan B Sigurdsson; Gyda Bjornsdottir; Jona Saemundsdottir; Olafur T Magnusson; Hans T Bjornsson; Unnur Thorsteinsdottir; Theodor S Sigurdsson; Patrick Sulem; Martin I Sigurdsson; Kari Stefansson
Journal:  Eur J Hum Genet       Date:  2021-08-31       Impact factor: 4.246

8.  A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.

Authors:  Alain Verloes; Lisenka E L M Vissers; Elke de Boer; Charlotte W Ockeloen; Leslie Matalonga; Rita Horvath; Richard J Rodenburg; Marieke J H Coenen; Mirian Janssen; Dylan Henssen; Christian Gilissen; Wouter Steyaert; Ida Paramonov; Aurélien Trimouille; Tjitske Kleefstra
Journal:  Eur J Hum Genet       Date:  2021-06-01       Impact factor: 4.246

9.  Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants.

Authors:  Aurélie Pham; Marie-Laure Sobrier; Eloïse Giabicani; Marilyne Le Jules Fernandes; Delphine Mitanchez; Fréderic Brioude; Irène Netchine
Journal:  Eur J Hum Genet       Date:  2021-07-19       Impact factor: 4.246

10.  Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

Authors:  Dhanya Lakshmi Narayanan; Divya Udyawar; Parneet Kaur; Suvasini Sharma; Narayanaswamy Suresh; Sheela Nampoothiri; Michelle C do Rosario; Puneeth H Somashekar; Lakshmi Priya Rao; Neethukrishna Kausthubham; Purvi Majethia; Shruti Pande; Y Ramesh Bhat; Aroor Shrikiran; Stephanie Bielas; Katta Mohan Girisha; Anju Shukla
Journal:  Eur J Hum Genet       Date:  2021-07-19       Impact factor: 4.246
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