# KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/kat6a-syndrome-genotype-phenotype-correlation-in-76-patients-with-pathogenic/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Joanna Kennedy,David Goudie,Edward Blair,Kate Chandler,Shelagh Joss,Victoria McKay,Andrew Green,Ruth Armstrong,Melissa Lees,Benjamin Kamien,Bruce Hopper,Tiong Yang Tan,Patrick Yap,Zornitza Stark,Nobuhiko Okamoto,Noriko Miyake,Naomichi Matsumoto,Ellen F. Macnamara,Jennifer L. Murphy,Elizabeth M. McCormick,Håkon Håkonarson,Marni J. Falk,Dong Li,Patrick R. Blackburn,Eric W. Klee,Dusica Babovic‐Vuksanovic,Susan Schelley,Louanne Hudgins,Sarina G. Kant,Bertrand Isidor,Benjamin Cogné,Kimberley Bradbury,Mark Williams,Chirag Patel,Helen Heussler,Celia Duff‐Farrier,Phillis Lakeman,Ingrid Scurr,Usha Kini,Mariet Elting,Margot R.F. Reijnders,Janneke Schuurs-Hoeijmakers,Mohamed Wafik,Anne Blomhoff,Claudia Ruivenkamp,Esther Nibbeling,Alexander J.M. Dingemans,Emilie D. Douine,Stanley F. Nelson,Maja Hempel,Tatjana Bierhals,Davor Lessel,Jessika Johannsen,Valerie A. Arboleda,Ruth Newbury‐Ecob |
| Citations | 112 |
| DOI | 10.1038/s41436-018-0259-2 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/s41436-018-0259-2.pdf |
| OpenAlex ID | https://openalex.org/W2890142544 |
| PMID | 30245513 |
| Type | article |
| Year | 2018 |

## Paper authors

- [Helen Heussler](https://scholariq.org/researchers/helen-heussler/)

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.