Literature DB >> 33837296

What's new in EJHG in April.

Alisdair McNeill1.   

Abstract

Entities:  

Mesh：

Year:  2021        PMID： 33837296      PMCID： PMC8035134          DOI： 10.1038/s41431-021-00841-w

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


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  9 in total

Review 1.  Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories.

Authors:  Ron Hochstenbach; Thomas Liehr; Rosalind J Hastings
Journal:  Eur J Hum Genet       Date:  2020-12-11       Impact factor: 4.246

2.  Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.

Authors:  Amanda Brignell; Conway Gu; Alison Holm; Bronwyn Carrigg; Daisy A Sheppard; David J Amor; Angela T Morgan
Journal:  Eur J Hum Genet       Date:  2020-12-08       Impact factor: 4.246

3.  Whole-exome sequencing of Finnish patients with vascular cognitive impairment.

Authors:  Rita Guerreiro; Liisa Myllykangas; Saana Mönkäre; Liina Kuuluvainen; Celia Kun-Rodrigues; Susana Carmona; Johanna Schleutker; Jose Bras; Minna Pöyhönen
Journal:  Eur J Hum Genet       Date:  2020-12-02       Impact factor: 4.246

4.  'CTRL': an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research.

Authors:  Matilda A Haas; Harriet Teare; Megan Prictor; Gabi Ceregra; Miranda E Vidgen; David Bunker; Jane Kaye; Tiffany Boughtwood
Journal:  Eur J Hum Genet       Date:  2021-01-06       Impact factor: 4.246

5.  A human case of GIMAP6 deficiency: a novel primary immune deficiency.

Authors:  Bella Shadur; Nathalie Asherie; Shlomit Kfir-Erenfeld; Taly Dubnikov; Adeeb NaserEddin; Yael Dinur Schejter; Orly Elpeleg; Hagar Mor-Shaked; Polina Stepensky
Journal:  Eur J Hum Genet       Date:  2020-12-16       Impact factor: 4.246

6.  Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

Authors:  Meena Balasubramanian; Alexander J M Dingemans; Shadi Albaba; Ruth Richardson; Thabo M Yates; Helen Cox; Sofia Douzgou; Ruth Armstrong; Francis H Sansbury; Katherine B Burke; Andrew E Fry; Nicola Ragge; Saba Sharif; Alison Foster; Annachiara De Sandre-Giovannoli; Sahar Elouej; Pradeep Vasudevan; Sahar Mansour; Kate Wilson; Helen Stewart; Solveig Heide; Caroline Nava; Boris Keren; Serwet Demirdas; Alice S Brooks; Marie Vincent; Bertrand Isidor; Sebastien Küry; Meyke Schouten; Erika Leenders; Wendy K Chung; Arie van Haeringen; Thomas Scheffner; Francois-Guillaume Debray; Susan M White; Maria Irene Valenzuela Palafoll; Rolph Pfundt; Ruth Newbury-Ecob; Tjitske Kleefstra
Journal:  Eur J Hum Genet       Date:  2021-01-12       Impact factor: 4.246

7.  Long-read trio sequencing of individuals with unsolved intellectual disability.

Authors:  Marc Pauper; Erdi Kucuk; Alexander Hoischen; Lisenka E L M Vissers; Christian Gilissen; Aaron M Wenger; Shreyasee Chakraborty; Primo Baybayan; Michael Kwint; Bart van der Sanden; Marcel R Nelen; Ronny Derks; Han G Brunner
Journal:  Eur J Hum Genet       Date:  2020-11-30       Impact factor: 4.246

8.  Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.

Authors:  Alexander J M Blakes; Emily Gaul; Wayne Lam; Nora Shannon; Karen M Knapp; Louise S Bicknell; Meremaihi R Jackson; Emma M Wade; Stephen Robertson; Susan M White; Raoul Heller; Andrew Chase; Diana Baralle; Andrew G L Douglas
Journal:  Eur J Hum Genet       Date:  2020-11-22       Impact factor: 4.246

9.  Reflections on dynamic consent in biomedical research: the story so far.

Authors:  Harriet J A Teare; Megan Prictor; Jane Kaye
Journal:  Eur J Hum Genet       Date:  2020-11-28       Impact factor: 4.246
  9 in total

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