Literature DB >> 35393563

No April fools in clinical genomics.

Alisdair McNeill1,2.   

Abstract

Entities:  

Mesh：

Year:  2022        PMID： 35393563      PMCID： PMC8989974          DOI： 10.1038/s41431-022-01084-z

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


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  12 in total

1.  Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.

Authors:  Jiyong Wang; Aidin Foroutan; Ellen Richardson; Steven A Skinner; Jack Reilly; Jennifer Kerkhof; Cynthia J Curry; Patrick S Tarpey; Stephen P Robertson; Isabelle Maystadt; Boris Keren; Joanne W Dixon; Cindy Skinner; Rachel Stapleton; Lyse Ruaud; Evren Gumus; Phillis Lakeman; Mariëlle Alders; Matthew L Tedder; Charles E Schwartz; Michael J Friez; Bekim Sadikovic; Roger E Stevenson
Journal:  Eur J Hum Genet       Date:  2022-01-07       Impact factor: 4.246

Review 2.  Outcomes of support groups for carriers of BRCA 1/2 pathogenic variants and their relatives: a systematic review.

Authors:  Benedetta Bertonazzi; Daniela Turchetti; Lea Godino
Journal:  Eur J Hum Genet       Date:  2022-01-26       Impact factor: 4.246

3.  Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus.

Authors:  Gustavo Mendoza-Fandiño; Paulo Cilas M Lyra; Thales C Nepomuceno; Carly M Harro; Nicholas T Woods; Xueli Li; Leticia B Rangel; Marcelo A Carvalho; Fergus J Couch; Alvaro N A Monteiro
Journal:  Eur J Hum Genet       Date:  2021-11-22       Impact factor: 4.246

4.  Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia.

Authors:  Emma M Wade; Padmini Parthasarathy; Jingyi Mi; Tim Morgan; Bernd Wollnik; Stephen P Robertson; Tim Cundy
Journal:  Eur J Hum Genet       Date:  2021-05-09       Impact factor: 4.246

5.  Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants.

Authors:  Daniel Moualed; Jonathan Wong; Owen Thomas; Calvin Heal; Rukhtam Saqib; Cameron Choi; Simon Lloyd; Scott Rutherford; Emma Stapleton; Charlotte Hammerbeck-Ward; Omar Pathmanaban; Roger Laitt; Miriam Smith; Andrew Wallace; Mark Kellett; Gareth Evans; Andrew King; Simon Freeman
Journal:  Eur J Hum Genet       Date:  2022-01-24       Impact factor: 4.246

6.  30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes.

Authors:  Emma R Woodward; Kate Green; George J Burghel; Michael Bulman; Tara Clancy; Fiona Lalloo; Helene Schlecht; Andrew J Wallace; D Gareth Evans
Journal:  Eur J Hum Genet       Date:  2021-12-06       Impact factor: 4.246

7.  A polygenic risk score for multiple myeloma risk prediction.

Authors:  Federico Canzian; Chiara Piredda; Angelica Macauda; Daria Zawirska; Niels Frost Andersen; Arnon Nagler; Jan Maciej Zaucha; Grzegorz Mazur; Charles Dumontet; Marzena Wątek; Krzysztof Jamroziak; Juan Sainz; Judit Várkonyi; Aleksandra Butrym; Katia Beider; Niels Abildgaard; Fabienne Lesueur; Marek Dudziński; Annette Juul Vangsted; Matteo Pelosini; Edyta Subocz; Mario Petrini; Gabriele Buda; Małgorzata Raźny; Federica Gemignani; Herlander Marques; Enrico Orciuolo; Katalin Kadar; Artur Jurczyszyn; Agnieszka Druzd-Sitek; Ulla Vogel; Vibeke Andersen; Rui Manuel Reis; Anna Suska; Hervé Avet-Loiseau; Marcin Kruszewski; Waldemar Tomczak; Marcin Rymko; Stephane Minvielle; Daniele Campa
Journal:  Eur J Hum Genet       Date:  2021-11-30       Impact factor: 4.246

8.  Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.

Authors:  Mateja Smogavec; Maria Gerykova Bujalkova; Reinhard Lehner; Jürgen Neesen; Jana Behunova; Gülen Yerlikaya-Schatten; Theresa Reischer; Reinhard Altmann; Denisa Weis; Hans-Christoph Duba; Franco Laccone
Journal:  Eur J Hum Genet       Date:  2022-01-01       Impact factor: 4.246

9.  Cascade screening for beta-thalassaemia in Pakistan: relatives' experiences of a decision support intervention in routine practice.

Authors:  Shenaz Ahmed; Hussain Jafri; Muhammed Faran; Wajeeha Naseer Ahmed; Yasmin Rashid; Yasmin Ehsan; Mushtaq Ahmed
Journal:  Eur J Hum Genet       Date:  2021-10-04       Impact factor: 4.246

10.  Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk.

Authors:  Pilar Mur; Lorena Magraner-Pardo; Sandra García-Mulero; Anna Díez-Villanueva; Jesús Del Valle; Elsa Ezquerro; Conxi Lázaro; Gabriel Capellá; Victor Moreno; Rebeca Sanz-Pamplona; Tirso Pons; Laura Valle
Journal:  Eur J Hum Genet       Date:  2021-07-20       Impact factor: 4.246
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