Literature DB >> 34616014

Genotyping arrays, population genetic studies and clinical implications.

Alisdair McNeill1,2.   

Abstract

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Mesh：

Year:  2021        PMID： 34616014      PMCID： PMC8560924          DOI： 10.1038/s41431-021-00979-7

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


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  9 in total

1.  TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.

Authors:  Aafke Engwerda; Erika K S M Leenders; Barbara Frentz; Paulien A Terhal; Katharina Löhner; Bert B A de Vries; Trijnie Dijkhuizen; Yvonne J Vos; Tuula Rinne; Maarten P van den Berg; Marc T R Roofthooft; Patrick Deelen; Conny M A van Ravenswaaij-Arts; Wilhelmina S Kerstjens-Frederikse
Journal:  Eur J Hum Genet       Date:  2021-08-30       Impact factor: 4.246

2.  Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.

Authors:  Gustavo Malinger; Aviva Fattal-Valevski; Moran Hausman-Kedem; Liat Ben-Sira; Debora Kidron; Shay Ben-Shachar; Rachel Straussberg; Daphna Marom; Penina Ponger; Anat Bar-Shira
Journal:  Eur J Hum Genet       Date:  2021-04-09       Impact factor: 4.246

3.  Stakeholders' views of integrating universal tumour screening and genetic testing for colorectal and endometrial cancer into routine oncology.

Authors:  Rosie O'Shea; Nicole M Rankin; Maira Kentwell; Margaret Gleeson; Katherine M Tucker; Heather Hampel; Natalie Taylor; Sarah Lewis
Journal:  Eur J Hum Genet       Date:  2021-04-02       Impact factor: 4.246

4.  Identifying challenges in neurofibromatosis: a modified Delphi procedure.

Authors:  Britt A E Dhaenens; Rosalie E Ferner; Annette Bakker; Marco Nievo; D Gareth Evans; Pierre Wolkenstein; Cornelia Potratz; Scott R Plotkin; Guenter Heimann; Eric Legius; Rianne Oostenbrink
Journal:  Eur J Hum Genet       Date:  2021-04-26       Impact factor: 4.246

5.  Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.

Authors:  Natja Haag; Ene-Choo Tan; Matthias Begemann; Lars Buschmann; Florian Kraft; Petra Holschbach; Angeline H M Lai; Maggie Brett; Ganeshwaran H Mochida; Stephanie DiTroia; Lynn Pais; Jennifer E Neil; Muna Al-Saffar; Laila Bastaki; Christopher A Walsh; Ingo Kurth; Cordula Knopp
Journal:  Eur J Hum Genet       Date:  2021-08-20       Impact factor: 4.246

6.  SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

Authors:  Alisdair McNeill; Emanuela Iovino; Luke Mansard; Christel Vache; David Baux; Emma Bedoukian; Helen Cox; John Dean; David Goudie; Ajith Kumar; Ruth Newbury-Ecob; Chiara Fallerini; Alessandra Renieri; Diego Lopergolo; Francesca Mari; Catherine Blanchet; Marjolaine Willems; Anne-Francoise Roux; Tommaso Pippucci; Eric Delpire
Journal:  Brain       Date:  2020-08-01       Impact factor: 15.255

7.  A comparison of genotyping arrays.

Authors:  Joost A M Verlouw; Eva Clemens; Jard H de Vries; Oliver Zolk; Annemieke J M H Verkerk; Antoinette Am Zehnhoff-Dinnesen; Carolina Medina-Gomez; Claudia Lanvers-Kaminsky; Fernando Rivadeneira; Thorsten Langer; Joyce B J van Meurs; Marry M van den Heuvel-Eibrink; André G Uitterlinden; Linda Broer
Journal:  Eur J Hum Genet       Date:  2021-06-18       Impact factor: 4.246

8.  The genetic structure of Norway.

Authors:  Morten Mattingsdal; S Sunna Ebenesersdóttir; Kristjan H S Moore; Ole A Andreassen; Thomas F Hansen; Thomas Werge; Ingrid Kockum; Tomas Olsson; Lars Alfredsson; Agnar Helgason; Kári Stefánsson; Eivind Hovig
Journal:  Eur J Hum Genet       Date:  2021-05-17       Impact factor: 4.246

9.  A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.

Authors:  Kenki Matsumoto; Derek Lim; Paul D Pharoah; Eamonn R Maher; Stefan J Marciniak
Journal:  Eur J Hum Genet       Date:  2021-07-15       Impact factor: 4.246
  9 in total

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