Literature DB >> 34848845

New year, new issue.

Alisdair McNeill1,2.   

Abstract

Entities:  

Mesh：

Year:  2022        PMID： 34848845      PMCID： PMC8738724          DOI： 10.1038/s41431-021-01014-5

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


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  15 in total

1.  Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.

Authors:  Christel Vaché; David Baux; Julie Bianchi; Corinne Baudoin; Valérie Faugère; Christine Francannet; Michel Koenig; Vasiliki Kalatzis; Anne-Françoise Roux
Journal:  Eur J Hum Genet       Date:  2021-12-03       Impact factor: 4.246

2.  Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.

Authors:  Amama Ghaffar; Faiza Rasheed; Muhammad Rashid; Hans van Bokhoven; Zubair M Ahmed; Sheikh Riazuddin; Saima Riazuddin
Journal:  Eur J Hum Genet       Date:  2021-11-08       Impact factor: 4.246

3.  Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.

Authors:  Anne-Sophie Denommé-Pichon; Antonio Vitobello; Laurence Faivre; Christel Thauvin-Robinet; Robert Olaso; Alban Ziegler; Médéric Jeanne; Frédéric Tran Mau-Them; Victor Couturier; Caroline Racine; Bertrand Isidor; Charlotte Poë; Thibaud Jouan; Anne Boland; Bertrand Fin; Delphine Bacq-Daian; Céline Besse; Aurore Garde; Adeline Prost; Philippine Garret; Émilie Tisserant; Julian Delanne; Sophie Nambot; Aurélien Juven; Magali Gorce; Mathilde Nizon; Marie Vincent; Sébastien Moutton; Mélanie Fradin; Alinoë Lavillaureix; Paul Rollier; Yline Capri; Julien Van-Gils; Tiffany Busa; Sabine Sigaudy; Laurent Pasquier; Magalie Barth; Ange-Line Bruel; Cyril Flamant; Clément Prouteau; Dominique Bonneau; Annick Toutain; Corinne Chantegret; Patrick Callier; Christophe Philippe; Yannis Duffourd; Jean-François Deleuze; Arthur Sorlin
Journal:  Eur J Hum Genet       Date:  2021-11-15       Impact factor: 5.351

Review 4.  Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.

Authors:  Oliver Murch; Vani Jain; Andreas Benneche; Kay Metcalfe; Emma Hobson; Katrina Prescott; Kate Chandler; Neeti Ghali; Jenny Carmichael; Nicola C Foulds; Julie Paulsen; Marie F Smeland; Siren Berland; Andrew E Fry
Journal:  Eur J Hum Genet       Date:  2021-10-14       Impact factor: 5.351

5.  Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.

Authors:  André S Bueno; Kelly Nunes; Alex M M Dias; Leandro U Alves; Beatriz C A Mendes; Juliana Sampaio-Silva; Jeroen Smits; Helger G Yntema; Diogo Meyer; Karina Lezirovitz; Regina C Mingroni-Netto
Journal:  Eur J Hum Genet       Date:  2021-05-06       Impact factor: 4.246

6.  Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Authors:  Adebolajo Adeyemo; Rabia Faridi; Parna Chattaraj; Rizwan Yousaf; Risa Tona; Samuel Okorie; Thashi Bharadwaj; Liz M Nouel-Saied; Anushree Acharya; Isabelle Schrauwen; Robert J Morell; Suzanne M Leal; Thomas B Friedman; Andrew J Griffith; Isabelle Roux
Journal:  Eur J Hum Genet       Date:  2021-11-26       Impact factor: 4.246

7.  Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.

Authors:  Britta Hanker; Gabriele Gillessen-Kaesbach; Irina Hüning; Hermann-Josef Lüdecke; Dagmar Wieczorek
Journal:  Eur J Hum Genet       Date:  2021-03-31       Impact factor: 4.246

8.  Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

Authors:  Sonja Neuser; Ilona Krey; Annemarie Schwan; Rami Abou Jamra; Tobias Bartolomaeus; Jan Döring; Steffen Syrbe; Margit Plassmann; Stefan Rohde; Christian Roth; Helga Rehder; Maximilian Radtke; Diana Le Duc; Susanna Schubert; Luis Bermúdez-Guzmán; Alejandro Leal; Katharina Schoner; Bernt Popp
Journal:  Eur J Hum Genet       Date:  2021-10-25       Impact factor: 4.246

9.  Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data.

Authors:  David Lewis-Smith; Shiva Ganesan; Peter D Galer; Katherine L Helbig; Sarah E McKeown; Margaret O'Brien; Pouya Khankhanian; Michael C Kaufman; Alexander K Gonzalez; Alex S Felmeister; Roland Krause; Colin A Ellis; Ingo Helbig
Journal:  Eur J Hum Genet       Date:  2021-05-24       Impact factor: 4.246
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