Joanna Kaplanis
Joanna Kaplanis
Postdoctoral fellow, Wellcome Sanger Institute
Verified email at sanger.ac.uk
Title
Cited by
Cited by
Year
Prevalence and architecture of de novo mutations in developmental disorders
TDDD Study
Nature 542 (7642), 433, 2017
4762017
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
1392018
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
942018
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
912018
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
83*2020
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
542017
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
LS Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, H Venselaar, ...
Nature communications 9 (1), 1-12, 2018
422018
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), 1-12, 2019
35*2019
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), 1-11, 2019
262019
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
242019
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
182019
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
142019
Quantitative analysis of population-scale family trees using millions of relatives
J Kaplanis, A Gordon, M Wahl, M Gershovits, B Markus, M Sheikh, ...
BioRxiv, 106427, 2017
52017
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, 2021
12021
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), 1-13, 2021
12021
Identifying and characterising germline hypermutators
J Kaplanis, P Danecek, E Prigmore, R Rahbari, P Short, J Korbel, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 712-712, 2020
12020
Discovery and characterisation of 49 novel genetic disorders from analysing de novo mutations in 31,058 parent child trio exomes
J Kaplanis, K Samocha, Z Zhang, R Torene, K Arvai, S Lelieveld, ...
European Journal of Human Genetics 27, 1046-1046, 2019
12019
Genetic and pharmacological causes of germline hypermutation
J Kaplanis, B Ide, R Sanghvi, M Neville, P Danecek, E Prigmore, P Short, ...
bioRxiv, 2021
2021
De novo noncoding variants upstream of MEF2C cause severe developmental disorders
N Whiffin, P Danecek, NM Quaife, J Kaplanis, K Samocha, J Juusola, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 338-338, 2020
2020
Germline mutation in rare disease
J Kaplanis
University of Cambridge, 2020
2020
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Articles 1–20