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kathryn Friend
kathryn Friend
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Verified email at sa.gov.au
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Cited by
Year
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
CN Hahn, CE Chong, CL Carmichael, EJ Wilkins, PJ Brautigan, XC Li, ...
Nature genetics 43 (10), 1012-1017, 2011
6832011
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay
S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ...
Nature genetics 42 (3), 203-209, 2010
6592010
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...
Nature genetics 46 (10), 1063-1071, 2014
6532014
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
LS Weaving, J Christodoulou, SL Williamson, KL Friend, OLD McKenzie, ...
The American Journal of Human Genetics 75 (6), 1079-1093, 2004
5592004
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
5142017
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ...
Nature genetics 40 (6), 776-781, 2008
4932008
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ...
Molecular psychiatry 21 (1), 133-148, 2016
3052016
Epilepsy and mental retardation limited to females: an under-recognized disorder
IE Scheffer, SJ Turner, LM Dibbens, MA Bayly, K Friend, B Hodgson, ...
Brain 131 (4), 918-927, 2008
2172008
Evidence of founder chromosomes in fragile X syndrome
RI Richards, K Holman, K Friend, E Kremer, D Hillen, A Staples, ...
Nature genetics 1 (4), 257-260, 1992
2091992
Targeted next‐generation sequencing analysis of 1,000 individuals with intellectual disability
D Grozeva, K Carss, O Spasic‐Boskovic, MI Tejada, J Gecz, M Shaw, ...
Human mutation 36 (12), 1197-1204, 2015
1942015
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ...
Nature neuroscience 20 (8), 1043-1051, 2017
1712017
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ...
Nature communications 11 (1), 4932, 2020
1422020
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ...
Nature Communications 10 (1), 4920, 2019
1222019
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
KL Friend, D Crimmins, TG Phan, CM Sue, A Colley, VSC Fung, ...
Human genetics 105, 261-265, 1999
1181999
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
GM Mirzaa, V Conti, AE Timms, CD Smyser, S Ahmed, M Carter, S Barnett, ...
The Lancet Neurology 14 (12), 1182-1195, 2015
962015
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly
M Field, PS Tarpey, R Smith, S Edkins, S O’Meara, C Stevens, C Tofts, ...
The American Journal of Human Genetics 81 (2), 367-374, 2007
962007
Common chromosomal fragile site FRA16D mutation in cancer cells
M Finnis, S Dayan, L Hobson, G Chenevix-Trench, K Friend, K Ried, ...
Human molecular genetics 14 (10), 1341-1349, 2005
952005
Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
H Leonard, L Colvin, J Christodoulou, T Schiavello, S Williamson, ...
Journal of Medical Genetics 40 (5), e52-e52, 2003
932003
THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability
R Kumar, MA Corbett, BWM Van Bon, JA Woenig, L Weir, E Douglas, ...
The American Journal of Human Genetics 97 (2), 302-310, 2015
742015
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband
SA Hardwick, K Reuter, SL Williamson, V Vasudevan, J Donald, K Slater, ...
European Journal of Human Genetics 15 (12), 1218-1229, 2007
722007
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