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Literature DB >> 35132196

A new system for variant classification?

Alisdair McNeill^1,2.

Abstract

Entities: Chemical

Mesh：

Year: 2022 PMID： 35132196 PMCID： PMC8821601 DOI： 10.1038/s41431-021-01032-3

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

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References

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12 in total

1. 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

Review 2. Rapid genomic testing for critically ill children: time to become standard of care?

Authors: Zornitza Stark; Sian Ellard
Journal: Eur J Hum Genet Date: 2021-11-08 Impact factor: 4.246

3. A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial.

Authors: Lieke M van den Heuvel; Yvonne M Hoedemaekers; Annette F Baas; Marieke J H Baars; J Peter van Tintelen; Ellen M A Smets; Imke Christiaans
Journal: Eur J Hum Genet Date: 2021-11-24 Impact factor: 4.246

4. Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study.

Authors: Laura Yeates; Kristie McDonald; Charlotte Burns; Christopher Semsarian; Stacy Carter; Jodie Ingles
Journal: Eur J Hum Genet Date: 2021-09-21 Impact factor: 4.246

5. Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.

Authors: Elena J Tucker; Katrina M Bell; Gorjana Robevska; Jocelyn van den Bergen; Katie L Ayers; Nurin Listyasari; Sultana Mh Faradz; Jérôme Dulon; Shabnam Bakhshalizadeh; Rajini Sreenivasan; Benedicte Nouyou; Wilfrid Carre; Linda Akloul; Solène Duros; Mathilde Domin-Bernhard; Marc-Antoine Belaud-Rotureau; Philippe Touraine; Sylvie Jaillard; Andrew H Sinclair
Journal: Eur J Hum Genet Date: 2021-10-28 Impact factor: 4.246

A new system for variant classification?

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

Review 2. Rapid genomic testing for critically ill children: time to become standard of care?

3. A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial.

4. Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study.

5. Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.

6. Development and use of the Australian reproductive genetic carrier screening decision aid.

7. Alkaptonuria in Russia.

8. Combining callers improves the detection of copy number variants from whole-genome sequencing.

9. Familial cleft tongue caused by a unique translation initiation codon variant in TP63.

10. Stepwise ABC system for classification of any type of genetic variant.