|Prevalence and architecture of de novo mutations in developmental disorders|
Nature 542 (7642), 433, 2017
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Genetic and pharmacological causes of germline hypermutation|
J Kaplanis, B Ide, R Sanghvi, M Neville, P Danecek, E Prigmore, P Short, ...
|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
|Germline mutation in rare disease|
University of Cambridge, 2020