A gene-agnostic trio exome strategy maximises diagnostic yield by uncovering disease-causing variants in newly discovered disease genes

J Baptista; K Stals; Franco E De; L Mallin; V Fryer; M Wakeling; A Parrish; A Johnson; J Settle; R Caswell; C Tysoe; E Baple; S Ellard

A gene-agnostic trio exome strategy maximises diagnostic yield by uncovering disease-causing variants in newly discovered disease genes

J Baptista
, K Stals
, Franco E De
, L Mallin
, V Fryer
, M Wakeling
, A Parrish
, A Johnson
, J Settle
, R Caswell
, C Tysoe
, E Baple
, S Ellard

Peninsula Medical School

Research output: Contribution to journal › Conference proceedings published in a journal › peer-review

Original language	English
Pages (from-to)	1635-1635
Number of pages	0
Journal	European Journal of Human Genetics
Volume	27
Issue number	0
Publication status	Published - 2019

Cite this

@article{868800ab681c45a5b21b53f307dafcd9,

title = "A gene-agnostic trio exome strategy maximises diagnostic yield by uncovering disease-causing variants in newly discovered disease genes",

author = "J Baptista and K Stals and De, \{Franco E\} and L Mallin and V Fryer and M Wakeling and A Parrish and A Johnson and J Settle and R Caswell and C Tysoe and E Baple and S Ellard",

year = "2019",

language = "English",

volume = "27",

pages = "1635--1635",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "0",

}

TY - JOUR

T1 - A gene-agnostic trio exome strategy maximises diagnostic yield by uncovering disease-causing variants in newly discovered disease genes

AU - Baptista, J

AU - Stals, K

AU - De, Franco E

AU - Mallin, L

AU - Fryer, V

AU - Wakeling, M

AU - Parrish, A

AU - Johnson, A

AU - Settle, J

AU - Caswell, R

AU - Tysoe, C

AU - Baple, E

AU - Ellard, S

PY - 2019

Y1 - 2019

M3 - Conference proceedings published in a journal

SN - 1018-4813

VL - 27

SP - 1635

EP - 1635

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 0

ER -