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Joanna Kaplanis
Joanna Kaplanis
Postdoctoral fellow, Wellcome Sanger Institute
Geverifieerd e-mailadres voor sanger.ac.uk
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Jaar
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
9772017
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
445*2020
Quantitative analysis of population-scale family trees with millions of relatives
J Kaplanis, A Gordon, T Shor, O Weissbrod, D Geiger, M Wahl, ...
Science 360 (6385), 171-175, 2018
2382018
Histone lysine methylases and demethylases in the landscape of human developmental disorders
V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ...
The American Journal of Human Genetics 102 (1), 175-187, 2018
2132018
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
182*2018
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ...
Neurology 89 (10), 1035-1042, 2017
1272017
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ...
Nature communications 9 (1), 4619, 2018
1002018
Similarities and differences in patterns of germline mutation between mice and humans
SJ Lindsay, R Rahbari, J Kaplanis, T Keane, ME Hurles
Nature communications 10 (1), 4053, 2019
98*2019
Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland
CF Wright, P Campbell, RY Eberhardt, S Aitken, D Perrett, S Brent, ...
New England Journal of Medicine 388 (17), 1559-1571, 2023
812023
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
CF Wright, E Prigmore, D Rajan, J Handsaker, J McRae, J Kaplanis, ...
Nature communications 10 (1), 2985, 2019
722019
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation
B Soskic, E Cano-Gamez, DJ Smyth, K Ambridge, Z Ke, JC Matte, ...
Nature genetics 54 (6), 817-826, 2022
712022
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ...
The American Journal of Human Genetics 104 (6), 1210-1222, 2019
702019
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ...
The American Journal of Human Genetics 104 (5), 948-956, 2019
602019
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
522022
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
482019
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
462021
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
402021
Deciphering Developmental Disorders Study
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Evidence for 28, 757-762, 2020
282020
Genetic and chemotherapeutic causes of germline hypermutation
J Kaplanis, B Ide, R Sanghvi, M Neville, P Danecek, T Coorens, ...
bioRxiv, 2021.06. 01.446180, 2021
9*2021
Optimising diagnostic yield in highly penetrant genomic disease
CF Wright, P Campbell, RY Eberhardt, S Aitken, D Perrett, S Brent, ...
medRxiv, 2022.07. 25.22278008, 2022
72022
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Artikelen 1–20