Literature DB >> 36050495

Guidelines, guidelines everywhere-and still I'm not sure what to do.

Alisdair McNeill1,2.   

Abstract

Entities:  

Year:  2022        PMID： 36050495      PMCID： PMC9437043          DOI： 10.1038/s41431-022-01167-x

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


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  12 in total

1.  A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.

Authors:  Boxun Zhao; Jill A Madden; Jasmine Lin; Gerard T Berry; Monica H Wojcik; Xuefang Zhao; Harrison Brand; Michael Talkowski; Eunjung Alice Lee; Pankaj B Agrawal
Journal:  Eur J Hum Genet       Date:  2022-06-30       Impact factor: 5.351

2.  Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.

Authors:  Constance F Wells; Guilaine Boursier; Kevin Yauy; Nathalie Ruiz-Pallares; Déborah Mechin; Valentin Ruault; Mylène Tharreau; Patricia Blanchet; Lucile Pinson; Christine Coubes; Marc Fila; Julien Baleine; Odile Pidoux; Maliha Badr; Christophe Milesi; Gilles Cambonie; Renaud Mesnage; Maëlle Dereure; Olivier Ardouin; Thomas Guignard; David Geneviève; Mouna Barat-Houari; Marjolaine Willems
Journal:  Eur J Hum Genet       Date:  2022-06-22       Impact factor: 5.351

3.  Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.

Authors:  Mandi Liu; Christopher L Smith; David M Biko; Dong Li; Erin Pinto; Nora O'Connor; Cara Skraban; Elaine H Zackai; Hakon Hakonarson; Yoav Dori; Sarah E Sheppard
Journal:  Eur J Hum Genet       Date:  2022-05-24       Impact factor: 5.351

4.  Prevalent versus incident breast cancers: benefits of clinical and radiological monitoring in women with pathogenic BRCA1/2 variants.

Authors:  Claire Saule; Solveig Menu-Hespel; Matthieu Carton; Caroline Malhaire; Pascal Cherel; Fabien Reyal; Marine Le Mentec; Eugénie Guillot; Anne Donnadieu; Nasrine Callet; Sophie Frank; Florence Coussy; Dominique Stoppa-Lyonnet; Emmanuelle Mouret-Fourme
Journal:  Eur J Hum Genet       Date:  2022-02-25       Impact factor: 5.351

5.  Recommendations for reporting results of diagnostic genomic testing.

Authors:  Zandra C Deans; Joo Wook Ahn; Isabel M Carreira; Elisabeth Dequeker; Mick Henderson; Luca Lovrecic; Katrin Õunap; Melody Tabiner; Rebecca Treacy; Christi J van Asperen
Journal:  Eur J Hum Genet       Date:  2022-04-01       Impact factor: 5.351

6.  An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.

Authors:  Ligia S Almeida; Catarina Pereira; Ruxandra Aanicai; Sabine Schröder; Tomasz Bochinski; Anett Kaune; Alice Urzi; Tania C L S Spohr; Nikenza Viceconte; Sebastian Oppermann; Mohammed Alasel; Saeedeh Ebadat; Sana Iftikhar; Eresha Jasinge; Solaf M Elsayed; Hoda Tomoum; Iman Marzouk; Anil B Jalan; Agne Cerkauskaite; Rimante Cerkauskiene; Tinatin Tkemaladze; Anjum Muhammad Nadeem; Iman Gamal El Din Mahmoud; Fawzia Amer Mossad; Mona Kamel; Laila Abdel Selim; Huma Arshad Cheema; Omid Paknia; Claudia Cozma; Carlos Juaristi-Manrique; Pilar Guatibonza-Moreno; Tobias Böttcher; Florian Vogel; Jorge Pinto-Basto; Aida Bertoli-Avella; Peter Bauer
Journal:  Eur J Hum Genet       Date:  2022-05-25       Impact factor: 5.351

7.  Recommendations for whole genome sequencing in diagnostics for rare diseases.

Authors:  Helger G Yntema; Marjan M Weiss; Erika Souche; Sergi Beltran; Erwin Brosens; John W Belmont; Magdalena Fossum; Olaf Riess; Christian Gilissen; Amin Ardeshirdavani; Gunnar Houge; Marielle van Gijn; Jill Clayton-Smith; Matthis Synofzik; Nicole de Leeuw; Zandra C Deans; Yasemin Dincer; Sebastian H Eck; Saskia van der Crabben; Meena Balasubramanian; Holm Graessner; Marc Sturm; Helen Firth; Alessandra Ferlini; Rima Nabbout; Elfride De Baere; Thomas Liehr; Milan Macek; Gert Matthijs; Hans Scheffer; Peter Bauer
Journal:  Eur J Hum Genet       Date:  2022-05-16       Impact factor: 5.351

Review 8.  Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review.

Authors:  Katharina Tschigg; Luca Consoli; Roberta Biasiotto; Deborah Mascalzoni
Journal:  Eur J Hum Genet       Date:  2022-06-15       Impact factor: 5.351

9.  Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.

Authors:  Monika Morak; Marta Pineda; Alexandra Martins; Pascaline Gaildrat; Hélène Tubeuf; Aurélie Drouet; Carolina Gómez; Estela Dámaso; Kerstin Schaefer; Verena Steinke-Lange; Udo Koehler; Andreas Laner; Julie Hauchard; Karine Chauris; Elke Holinski-Feder; Gabriel Capellá
Journal:  Eur J Hum Genet       Date:  2022-06-09       Impact factor: 5.351

10.  A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.

Authors:  Suzanna Lindsey-Temple; Matt Edwards; Verena Rickassel; Theresa Nauth; Georg Rosenberger
Journal:  Eur J Hum Genet       Date:  2022-06-29       Impact factor: 5.351
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