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Casey, Jillian
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1

Intra-familial variability associated with recessive RYR1 m..:

Casey, Jillian ; Flood, Karen ; Ennis, Sean...
Prenatal Diagnosis.  36 (2016)  11 - p. 1020-1026 , 2016
Link: https://doi.org/10.1002/..
 
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2

Atypical Alstrom syndrome with novel ALMS1 mutations preclu..:

Casey, Jillian ; McGettigan, Paul ; Brosnahan, Donal...
European Journal of Medical Genetics.  57 (2014)  2-3 - p. 55-59 , 2014
Link: https://doi.org/10.1016/..
 
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3

A genome‐wide association study of recipient genotype and m..:

O'Brien, Robert P. ; Phelan, Paul J. ; Conroy, Judith...
Clinical Transplantation.  27 (2013)  3 - p. 379-387 , 2013
Link: https://doi.org/10.1111/..
 
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4

Individual common variants exert weak effects on the risk f..:

Anney, Richard ; Klei, Lambertus ; Pinto, Dalila...
Human Molecular Genetics.  21 (2012)  21 - p. 4781-4792 , 2012
Link: https://doi.org/10.1093/..
 
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5

First implication ofSTRA6mutations in isolated anophthalmia..:

Casey, Jillian ; Kawaguchi, Riki ; Morrissey, Maria...
Human Mutation.  32 (2011)  12 - p. 1417-1426 , 2011
Link: https://doi.org/10.1002/..
 
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6

Functional impact of global rare copy number variation in a..:

Pinto, Dalila ; Pagnamenta, Alistair T. ; Klei, Lambertus...
Nature.  466 (2010)  7304 - p. 368-372 , 2010
Link: https://doi.org/10.1038/..
 
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7

A novel gain-of-function mutation in the ITPR1 suppressor d..:

Casey, Jillian P. ; Hirouchi, Taisei ; Hisatsune, Chihiro...
Journal of Neurology.  264 (2017)  7 - p. 1444-1453 , 2017
Link: https://doi.org/10.1007/..
 
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8

Bicoronal and metopic craniosynostosis in association with ..:

O'Byrne, James J. ; Ryan, Helen ; Murray, Dylan J....
American Journal of Medical Genetics Part A.  173 (2016)  1 - p. 274-279 , 2016
Link: https://doi.org/10.1002/..
 
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9

Cover Image, Volume 173A, Number 1, January 2017:

O'Byrne, James J. ; Ryan, Helen ; Murray, Dylan J....
American Journal of Medical Genetics Part A.  173 (2016)  1 - p. , 2016
Link: https://doi.org/10.1002/..
 
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10

Recessive NEK9 mutation causes a lethal skeletal dysplasia ..:

Casey, Jillian P. ; Brennan, Kieran ; Scheidel, Noemie...
Human Molecular Genetics.  25 (2016)  9 - p. 1824-1835 , 2016
Link: https://doi.org/10.1093/..
 
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11

A case report of primary ciliary dyskinesia, laterality def..:

Casey, Jillian P. ; Goggin, Patricia ; McDaid, Jennifer...
BMC Medical Genetics.  16 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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12

Clinical and genetic characterisation of infantile liver fa..:

Casey, Jillian P. ; Slattery, Suzanne ; Cotter, Melanie...
Journal of Inherited Metabolic Disease.  38 (2015)  6 - p. 1085-1092 , 2015
Link: https://doi.org/10.1007/..
 
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13

NAA10 mutation causing a novel intellectual disability synd..:

Casey, Jillian P. ; Støve, Svein I. ; McGorrian, Catherine...
Scientific Reports.  5 (2015)  1 - p. , 2015
Link: https://doi.org/10.1038/..
 
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14

The impact of the metabotropic glutamate receptor and other..:

Hadley, Dexter ; Wu, Zhi-liang ; Kao, Charlly...
Nature Communications.  5 (2014)  1 - p. , 2014
Link: https://doi.org/10.1038/..
 
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15

HGDP and HapMap Analysis by Ancestry Mapper Reveals Local a..:

Magalhães, Tiago R. ; Casey, Jillian P. ; Conroy, Judith...
PLoS ONE.  7 (2012)  11 - p. e49438 , 2012
Link: https://doi.org/10.1371/..
 
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