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Literature DB >> 34267340

Clinical genetics-it's polygenic.

Alisdair McNeill^1,2.

Abstract

Entities: Chemical

Mesh：

Year: 2021 PMID： 34267340 PMCID： PMC8298425 DOI： 10.1038/s41431-021-00931-9

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

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References

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7 in total

1. Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.

Authors: James Whitworth; Ruth T Casey; Philip S Smith; Olivier Giger; Jose Ezequiel Martin; Graeme Clark; Jaqueline Cook; Marlee S Fernando; Phillipe Taniere; Eamonn R Maher
Journal: Eur J Hum Genet Date: 2021-04-15 Impact factor: 4.246

2. Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.

Authors: Hrafnhildur L Runolfsdottir; John A Sayer; Olafur S Indridason; Vidar O Edvardsson; Brynjar O Jensson; Gudny A Arnadottir; Sigurjon A Gudjonsson; Run Fridriksdottir; Hildigunnur Katrinardottir; Daniel Gudbjartsson; Unnur Thorsteinsdottir; Patrick Sulem; Kari Stefansson; Runolfur Palsson
Journal: Eur J Hum Genet Date: 2021-03-11 Impact factor: 5.351

3. Evidence of mosaicism in SPAST variant carriers in four French families.

Authors: Chloé Angelini; Cyril Goizet; Samia Ait Said; William Camu; Christel Depienne; Bénédicte Heron; Bophara Kol; Marine Guillaud-Bataille; Perrine Pennamen; Caroline Rooryck; Clarisse Scherer-Gagou; Laurène Tissier; Giovanni Stevanin; Eric Leguern; Guillaume Banneau
Journal: Eur J Hum Genet Date: 2021-05-06 Impact factor: 5.351

4. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.

Authors: Karen M Knapp; Danielle E Jenkins; Rosie Sullivan; Frederike L Harms; Leonie von Elsner; Charlotte W Ockeloen; Sonja de Munnik; Ernie M H F Bongers; Jennie Murray; Nicholas Pachter; Jonas Denecke; Kerstin Kutsche; Louise S Bicknell
Journal: Eur J Hum Genet Date: 2021-03-02 Impact factor: 5.351

Clinical genetics-it's polygenic.

1. Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.

2. Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.

3. Evidence of mosaicism in SPAST variant carriers in four French families.

4. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.

5. Polygenic risk modeling with latent trait-related genetic components.

6. Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.

Review 7. Atrial fibrillation-a complex polygenetic disease.