Giuseppe Gallone
Giuseppe Gallone
Bayer Pharmaceuticals
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Evidence for 28 genetic disorders discovered by combining healthcare and research data
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Nature 586 (7831), 757-762, 2020
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
CF Wright, JF McRae, S Clayton, G Gallone, S Aitken, TW FitzGerald, ...
Genetics in Medicine 20 (10), 1216-1223, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi, HC Martin, DL Rice, G Gallone, S Gordon, M Kelemen, ...
Nature 562 (7726), 268-271, 2018
De novo mutations in regulatory elements in neurodevelopmental disorders
PJ Short, JF McRae, G Gallone, A Sifrim, H Won, DH Geschwind, ...
Nature 555 (7698), 611-616, 2018
Foxn1 regulates key target genes essential for T cell development in postnatal thymic epithelial cells
S Žuklys, A Handel, S Zhanybekova, F Govani, M Keller, S Maio, ...
Nature immunology 17 (10), 1206-1215, 2016
Quantifying the contribution of recessive coding variation to developmental disorders
HC Martin, WD Jones, R McIntyre, G Sanchez-Andrade, M Sanderson, ...
Science 362 (6419), 1161-1164, 2018
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia
DJ Moore, A Onoufriadis, A Shoemark, MA Simpson, PI Zur Lage, ...
The American Journal of Human Genetics 93 (2), 346-356, 2013
Vitamin D receptor ChIP-seq in primary CD4+ cells: relationship to serum 25-hydroxyvitamin D levels and autoimmune disease
AE Handel, GK Sandve, G Disanto, AJ Berlanga-Taylor, G Gallone, ...
BMC medicine 11, 1-11, 2013
Pathogenicity and selective constraint on variation near splice sites
J Lord, G Gallone, PJ Short, JF McRae, H Ironfield, EH Wynn, SS Gerety, ...
Genome research 29 (2), 159-170, 2019
Contribution of retrotransposition to developmental disorders
EJ Gardner, E Prigmore, G Gallone, P Danecek, KE Samocha, ...
Nature Communications 10 (1), 4630, 2019
Genetic and chemotherapeutic influences on germline hypermutation
J Kaplanis, B Ide, R Sanghvi, M Neville, P Danecek, T Coorens, ...
Nature 605 (7910), 503-508, 2022
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
CF Wright, NM Quaife, L Ramos-Hernández, P Danecek, MP Ferla, ...
The American Journal of Human Genetics 108 (6), 1083-1094, 2021
Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
biorxiv, 797787, 2019
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
J Kaplanis, N Akawi, G Gallone, JF McRae, E Prigmore, CF Wright, ...
Genome research 29 (7), 1047-1056, 2019
The contribution of X-linked coding variation to severe developmental disorders
HC Martin, EJ Gardner, KE Samocha, J Kaplanis, N Akawi, A Sifrim, ...
Nature communications 12 (1), 627, 2021
Identification of genetic variants affecting vitamin D receptor binding and associations with autoimmune disease
G Gallone, W Haerty, G Disanto, SV Ramagopalan, CP Ponting, ...
Human molecular genetics 26 (11), 2164-2176, 2017
Ranbow: a fast and accurate method for polyploid haplotype reconstruction
MH Moeinzadeh, J Yang, E Muzychenko, G Gallone, D Heller, K Reinert, ...
PLOS Computational Biology 16 (5), e1007843, 2020
Deciphering Developmental Disorders Study
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Evidence for 28, 757-762, 2020
Bio:: Homology:: InterologWalk-A Perl module to build putative protein-protein interaction networks through interolog mapping
G Gallone, TI Simpson, JD Armstrong, AP Jarman
BMC bioinformatics 12, 1-15, 2011
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
EJ Gardner, A Sifrim, SJ Lindsay, E Prigmore, D Rajan, P Danecek, ...
The American Journal of Human Genetics 108 (11), 2186-2194, 2021
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