Literature DB >> 35922666

Exome sequencing-one test to rule them all?

Alisdair McNeill1,2.   

Abstract

Entities:  

Mesh：

Year:  2022        PMID： 35922666      PMCID： PMC9349271          DOI： 10.1038/s41431-022-01145-3

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


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  8 in total

1.  A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service.

Authors:  Clare Firth; Vishakha Tripathi; Alicja Kowalski Bellamy; Nadia Somers; Caroline Roos; Charlotte Tomlinson
Journal:  Eur J Hum Genet       Date:  2022-05-16       Impact factor: 5.351

2.  Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Authors:  Nicolas Bourgon; Aurore Garde; Ange-Line Bruel; Mathilde Lefebvre; Frederic Tran Mau-Them; Sebastien Moutton; Arthur Sorlin; Sophie Nambot; Julian Delanne; Martin Chevarin; Charlotte Pöe; Julien Thevenon; Daphné Lehalle; Nolween Jean-Marçais; Paul Kuentz; Laetitia Lambert; Salima El Chehadeh; Elise Schaefer; Marjolaine Willems; Fanny Laffargue; Christine Francannet; Mélanie Fradin; Dominique Gaillard; Sophie Blesson; Alice Goldenberg; Yline Capri; Paul Sagot; Thierry Rousseau; Emmanuel Simon; Christine Binquet; Marie-Laure Ascencio; Yannis Duffourd; Christophe Philippe; Laurence Faivre; Antonio Vitobello; Christel Thauvin-Robinet
Journal:  Eur J Hum Genet       Date:  2022-05-16       Impact factor: 5.351

3.  "Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.

Authors:  Francesco Nicita; Fabrizia Stregapede; Federica Deodato; Simone Pizzi; Simone Martinelli; Daria Pagliara; Chiara Aiello; Francesca Cumbo; Fiorella Piemonte; Jessica D'Amico; Stefano Pro; Daniela Longo; Silvia Genovese; Marco Tartaglia; Maria L Escolar; Enrico Bertini; Lorena Travaglini
Journal:  Eur J Hum Genet       Date:  2022-05-17       Impact factor: 5.351

4.  Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.

Authors:  Maya Chopra; Richard Caswell; Giulia Barcia; Sophie Rondeau; Laurence Jonard; Patrick Nitchké; Daniel Amram; Marc-Lionel Bellaiche; Veronique Abadie; Marine Parodi; Francoise Denoyelle; Andrew Hattersley; Christine Bole; Stanislas Lyonnet; Sandrine Marlin
Journal:  Eur J Hum Genet       Date:  2022-05-20       Impact factor: 5.351

5.  Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.

Authors:  Bushra Al Shamsi; Fathiya Al Murshedi; Asila Al Habsi; Khalid Al-Thihli
Journal:  Eur J Hum Genet       Date:  2021-11-12       Impact factor: 5.351

6.  Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.

Authors:  Alejandro J Brea-Fernández; Miriam Álvarez-Barona; Jorge Amigo; María Tubío-Fungueiriño; Pilar Caamaño; Montserrat Fernández-Prieto; Francisco Barros; Silvia De Rubeis; Joseph Buxbaum; Ángel Carracedo
Journal:  Eur J Hum Genet       Date:  2022-03-23       Impact factor: 5.351

7.  DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.

Authors:  Shira Yanovsky-Dagan; Eliora Cohen; Pauline Megalli; Gheona Altarescu; Oshrat Schonberger; Talia Eldar-Geva; Silvina Epsztejn-Litman; Rachel Eiges
Journal:  Eur J Hum Genet       Date:  2021-11-15       Impact factor: 5.351

8.  Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.

Authors:  Katinka Breuer; Korbinian M Riedhammer; Nicole Müller; Birthe Schaidinger; Gregor Dombrowsky; Sven Dittrich; Susanne Zeidler; Ulrike M M Bauer; Dominik S Westphal; Thomas Meitinger; Tikam Chand Dakal; Marc-Phillip Hitz; Johannes Breuer; Heiko Reutter; Alina C Hilger; Julia Hoefele
Journal:  Eur J Hum Genet       Date:  2022-04-26       Impact factor: 5.351
  8 in total

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