Publications: Dr Pilar Cacheiro Martinez
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S et al.
(
2023
)
.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
.
American Journal of Human Genetics
vol.
110
,
(
8
)
1356
-
1376
.
Groza T, Gomez FL, Mashhadi HH, Muñoz-Fuentes V, Gunes O, Wilson R, Cacheiro P, Frost A et al.
(
2022
)
.
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
.
Nucleic Acids Research
vol.
51
,
(
D1
)
d1038
-
d1045
.
Cacheiro P, Westerberg CH, Mager J, Dickinson ME, Nutter LMJ, Muñoz-Fuentes V, Hsu C-W, Van den Veyver IB et al.
(
2022
)
.
Mendelian gene identification through mouse embryo viability screening
.
Genome Medicine
vol.
14
,
(
1
)
Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U et al.
(
2022
)
.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
.
American Journal of Medical Genetics Part C Seminars in Medical Genetics
vol.
190
,
(
2
)
231
-
242
.
Smedley D, Smith KR, Martin AR, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G et al.
(
2021
)
.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
.
New England Journal of Medicine
vol.
385
,
(
20
)
1868
-
1880
.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D et al.
(
2021
)
.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
.
Nature Genetics
vol.
53
,
(
7
)
1006
-
1021
.
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H et al.
(
2020
)
.
Human and mouse essentiality screens as a resource for disease gene discovery
.
Nature Communications
vol.
11
,
(
1
)
Cacheiro P, Haendel MA, Smedley D
(
2019
)
.
New models for human disease from the International Mouse Phenotyping Consortium
.
Mammalian Genome
vol.
30
,
(
5-6
)
143
-
150
.
Muñoz-Fuentes V, Cacheiro P, Meehan TF, Aguilar-Pimentel JA, Brown SDM, Flenniken AM, Flicek P, Galli A et al.
(
2018
)
.
The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation
.
Conservation Genetics
vol.
19
,
(
4
)
995
-
1005
.