Co-Authors
AuthorsNo. of Publications
mak, ccy 76
yeung, ks 62
lau, yl 61
luk, hm 48
chu, wy 42
chan, gcf 38
yang, w 38
lee, sl 35
leung, kc 35
chan, yk 34
chitayat, d 34
kan, sya 34
weksberg, r 31
fung, jlf 30
fung, cw 29
wong, whs 29
wong, vcn 27
fung, lf 26
liu, apy 26
tang, mhy 26
mok, tkg 23
lun, ks 21
tsang, hy 21
yu, mhc 21
lo, ifm 20
scherer, sw 20
lee, m 19
ip, p 18
lee, ppw 18
choufani, s 17
lam, sts 17
lau, etk 17
wong, wl 17
chan, hss 16
tsang, mhy 16
chung, ccy 15
grafodatskaya, d 15
ying, d 15
yu, hc 15
chu, ywy 14
kan, asy 14
khong, pl 13
lo, fmi 13
tan, ty 13
ha, sy 12
lee, tl 12
marshall, cr 12
wong, v 12
yung, tc 12
chan, mcy 11
chung, cy 11
leung, gkc 11
mok, gtk 11
chau, ftj 10
chiu, ta 10
stavropoulos, dj 10
yang, j 10
chau, akt 9
cheung, yf 9
chow, pc 9
cytrynbaum, c 9
hinek, a 9
ho, mhk 9
ip, jkj 9
pei, lcs 9
shotelersuk, v 9
smith, dk 9
tam, pkh 9
tang, wf 9
thong, mk 9
blaser, s 8
chan, kyk 8
chow, cb 8
dobyns, wb 8
fu, w 8
girisha, km 8
kruszka, p 8
li, yh 8
muenke, m 8
zayts, oa 8
addissie, ya 7
chan, kw 7
cheung, pt 7
dissanayake, vhw 7
hui, pw 7
jones, kl 7
kwong, aky 7
moresco, a 7
obregon, mg 7
tso, wyw 7
tung, yl 7
amiel, j 6
chen, ya 6
chiu, atg 6
chong, cy 6
doherty, d 6
huang, s 6
innes, am 6
keating, s 6
kwong, ky 6
patil, sj 6
roberts, w 6
rodenburg, rjt 6
schwartz, ce 6
shannon, p 6
smeitink, j 6
tao, qv 6
tong, tmf 6
turinsky, al 6
uwineza, a 6
wong, ky 6
yu, hc 6
abidi, fe 5
aldinger, ka 5
badoe, e 5
brudno, m 5
butcher, dt 5
chan, jck 5
chan, kyk 5
chan, shs 5
chau, jft 5
chiang, aks 5
chui, mcm 5
ekure, en 5
garcia-barcelo, mm 5
gibson, wt 5
gordon, ct 5
gripp, kw 5
ip, p 5
lau, wcs 5
lee, cp 5
lee, nc 5
lek, m 5
li, c 5
linguraru, mg 5
lo, hm 5
ma, esk 5
mutesa, l 5
muthukumarasamy, p 5
pajusalu, s 5
paththinige, cs 5
porras, ar 5
sham, pc 5
so, pl 5
stevenson, re 5
summar, m 5
tang, sm 5
tekendo-ngongang, c 5
yang, s 5
zhang, y 5
zhou, lj 5
abdul-rahman, oa 4
adeyemo, aa 4
alkuraya, fs 4
ashaat, ea 4
au, slk 4
bernstein, ja 4
biesecker, lg 4
buxbaum, jd 4
chan, aok 4
chau, skc 4
chen, x 4
cheng, ssw 4
cheung, kw 4
chung, phy 4
el ruby, mo 4
fernandez, b 4
fernandez, ba 4
ferreira, cr 4
freitag, cm 4
fung, sth 4
gao, w 4
gupta, n 4
hirankarn, n 4
ho, rsl 4
horn, d 4
huckstadt, v 4
hussen, df 4
isidor, b 4
jamuar, ss 4
jin, d 4
kariminejad, a 4
kwok, sy 4
lam, hm 4
lau, e 4
lee, kw 4
leung, amh 4
leung, ky 4
leung, wc 4
leung, wy 4
liang, r 4
lin, ae 4
lo, tk 4
lupski, jr 4
ma, ch 4
mak, asl 4
mendoza-londono, r 4
mignot, c 4
mishra, r 4
mok, cc 4
mok, tmy 4
mok, wky 4
ooi, cgc 4
pei, slc 4
pfundt, r 4
prijoles, ej 4
richieri-costa, a 4
shaffer, l 4
shek, nwm 4
sirisena, nd 4
szatmari, p 4
teitelbaum, r 4
toi, a 4
white, sm 4
wong, rws 4
wong, sn 4
wonkam, a 4
yu, kpt 4
zackai, eh 4
zhang, l 4
au, lks 3
avihingsanon, y 3
badilla-porras, r 3
barkovich, aj 3
bassett, as 3
belhassan, k 3
bennett, jt 3
betancur, c 3
bhatia, i 3
bird, lm 3
braddock, sr 3
bradley, t 3
callewaert, b 3
caluseriu, o 3
chan, cm 3
chan, dtm 3
chan, ew 3
chan, hc 3
chan, kls 3
chan, ssk 3
chan, sy 3
chan, sy 3
chan, vcm 3
chan, vky 3
chau, kt 3
chen, jh 3
cherny, ss 3
chiocchetti, ag 3
chow, cp 3
chua, gt 3
chui, mmc 3
cohen, asa 3
collins, s 3
cui, y 3
curry, cj 3
de herreros, mb 3
de rubeis, s 3
de vries, bba 3
deekajorndej, t 3
dobyns, w 3
dowsett, l 3
eaton, a 3
el bouchikhi, i 3
faivre, l 3
fan, m 3
fieggen, k 3
fleischer, n 3
fung, sks 3
gallardo jugo, be 3
gao, y 3
ge, m 3
gerkes, eh 3
gill, ad 3
glass, ia 3
hamilton, j 3
hasan, kmm 3
hoischen, a 3
honey, e 3
huang, h 3
hui, kf 3
hui, vcc 3
inbar-feigenberg, m 3
jit, m 3
kalu, n 3
kamsteeg, ej 3
kaplan, jd 3
keren, b 3
kolevzon, a 3
kozel, ba 3
kwong, bmh 3
lai, shy 3
lai, wm 3
lausch, e 3
lee, hch 3
lee, r 3
lee, wc 3
leung, g 3
li, am 3
li, rhw 3
li, xp 3
lim, et 3
liu, a 3
lo, fm 3
lo, j 3
lotz-esquivel, s 3
ma, ach 3
ma, ck 3
ma, twl 3
mak, sl 3
man, e 3
matsumoto, n 3
maystadt, i 3
megarbane, a 3
merico, d 3
mirzaa, g 3
mirzaa, gm 3
mok, sl 3
moretti-ferreira, d 3
ng, iol 3
ng, p 3
ng, ync 3
nicholls, jm 3
olsson, s 3
or, sf 3
ouldim, k 3
pagnamenta, at 3
pan, hf 3
pathadka, s 3
poon, wys 3
powis, z 3
rethanavelu, k 3
rianthavorn, p 3
shah, v 3
shieh, jt 3
shu, w 3
shukla, a 3
so, kw 3
sobering, ak 3
sokunbi, oj 3
stavropoulos, j 3
stevens, ca 3
stoler, j 3
strom, tm 3
sun, l 3
suphapeetiporn, k 3
tai, sm 3
tang, m 3
tang, m 3
tanpaiboon, p 3
thevenon, j 3
timms, ae 3
tong, kl 3
tse, nkc 3
utine, ge 3
van haelst, mm 3
vegas, n 3
walsh, ca 3
wong, cm 3
wong, cnv 3
wong, s 3
wu, sp 3
ye, dq 3
ying, sky 3
yoon, g 3
yung, awy 3
zarate, ya 3
zayts, o 3
zenker, m 3
zhang, j 3
zhao, m 3
abarca barriga, hh 2
adam, mp 2
alanay, y 2
aleksic, b 2
alkindy, a 2
amlie-wolf, l 2
anney, r 2
au yeung, kyg 2
au, pkc 2
avihingsanon, yingyos 2
bacino, ca 2
bamshad, mj 2
bartsch, o 2
basel-salmon, l 2
bayat, a 2
bhoj, e 2
bienvenu, t 2
biskup, s 2
bok, la 2
bonnemann, cg 2
bouguenouch, l 2
boycott, km 2
brancati, f 2
brunetti-pierri, n 2
brunner, hg 2
cai, j 2
campeau, pm 2
cao, y 2
cappuccio, g 2
carey, jc 2
carracedo, a 2
chan, cyy 2
chan, k 2
chan, k 2
chan, ky 2
chan, ky 2
chan, m 2
chan, pyt 2
chan, sm 2
chater-diehl, e 2
chau, csk 2
chaudhry, a 2
chee, wyy 2
chen, xy 2
cheng, yky 2
cherny, stacey s. 2
cheuk, dkl 2
cheuk, ky 2
cheung, nyc 2
cheung, rtf 2
cheung, yf 2
chiang, a 2
chiu, wk 2
cho, mt 2
choi, ky 2
chong, chun yin 2
chong, sc 2
chow, jhk 2
chow, p 2
chow, w 2
choy, kw 2
chu, annie tsz wai 2
chu, atw 2
chui, wcm 2
chung, claudia ching yan 2
cogne, b 2
cook, eh 2
coon, h 2
coucke, p 2
cuccaro, ml 2
cui, yong 2
curry, c 2
cutiongco-de la paz, em 2
cutler, dj 2
dai, hz 2
dalloyaux, d 2
daly, mj 2
de geus, c 2
de paepe, a 2
de souza, dh 2
deekajorndej, thavatchai 2
den hollander, ns 2
devlin, b 2
devriendt, k 2
dimartino, c 2
ding, sck 2
drmic, i 2
dubbs, h 2
dupuis, l 2
faradz, smh 2
fischer-zirnsak, b 2
forrest, c 2
freisinger, p 2
fromer, m 2
fung, elw 2
fung, gpg 2
fung, samuel ka shun 2
gale, sc 2
gallagher, l 2
gill, m 2
goldstein, a 2
gong, m 2
gonzaga-jauregui, c 2
goodman, s 2
goodman, sj 2
gordon, gt 2
graham, jm 2
grossse-wortmann, l 2
guerrini, r 2
guillemyn, b 2
gupta, a 2
guter, s 2
haack, tb 2
hakonarson, h 2
hammer, tb 2
hausser, i 2
hawkins, c 2
hennekam, rcm 2
heron, d 2
hirankarn, nattiya 2
hitz, mp 2
ho, a 2
ho, cca 2
ho, hk 2
ho, marco hok kung 2
ho, msp 2
ho, s 2
ho, whl 2
ho, wws 2
hopkin, rj 2
hu, t 2
hue, shirley pik ying 2
hui, apw 2
hui, j 2
hui, s 2
hultman, cm 2
ip, dkm 2
ip, j 2
ishak, ge 2
izumi, k 2
jain, r 2
jamali, p 2
jobling, rk 2
joss, s 2
kalish, jm 2
kan, a 2
kant, sg 2
kimball, a 2
kisling, ms 2
klei, l 2
klinkhammer, h 2
kong, cw 2
kornak, u 2
kosaki, k 2
krawitz, pm 2
kuentz, p 2
kuong, eeyl 2
kury, s 2
kushima, i 2
kwok, awc 2
kwok, jsy 2
la serna, j 2
lai, a 2
lai, ps 2
lai, wai ming 2
lau, chak sing 2
lau, eyl 2
lau, eyt 2
lau, wy 2
lederer, d 2
lee, j 2
lee, ka wing 2
lee, mianne 2
lee, p 2
lee, pamela pui wah 2
lee, ppw 2
lee, s 2
lee, tsz leung 2
lees, m 2
lefeber, dj 2
leong, hy 2
lesca, g 2
lessel, d 2
leung, alexander moon ho 2
leung, d 2
li, awt 2
li, ch 2
li, h 2
li, hc 2
li, s 2
li, skm 2
li, x 2
li, xiang pei 2
li, y 2
lin, s 2
lin, sp 2
lionel, ac 2
lou, y 2
lui, acy 2
lui, cyw 2
luk, cw 2
lum, ty 2
lyonnet, s 2
machado, j 2
mackay, s 2
mak, c 2
mak, christopher c y 2
mak, christopher chun yu 2
marchegiani, s 2
martins, f 2
mazzanti, l 2
mcdonald-mcginn, dm 2
mcdonell, lm 2
mcdougall, c 2
mcluskey, j 2
meitinger, t 2
millen, kj 2
miller, j 2
minshew, nj 2
mohamed, m 2
mok, chi chiu 2
moog, u 2
moosa, s 2
morava, e 2
morris, ca 2
murrell, jr 2
nava, c 2
nelson, sf 2
netzer, c 2
ng, csc 2
nickerson, da 2
nijtmans, l 2
nishimura, g 2
noor, a 2
nowaczyk, mjm 2
oakhill, k 2
okamoto, n 2
ong, wpt 2
ooi, gc 2
orenstein, n 2
oufadem, m 2
ozaki, n 2
pan, hai feng 2
parellada, m 2
parker, mj 2
passos-bueno, mr 2
phadke, sr 2
poon, wkg 2
prabodha, lbl 2
rajendram, r 2
reardon, m 2
reko, n 2
rianthavorn, pornpimol 2
roadhouse, c 2
roberts, lj 2
roche, n 2
rodenburg, r 2
roeder, k 2
roifman, m 2
sallevelt, sceh 2
sanchez-lara, pa 2
sarangi, s 2
sham, pak chung 2
she, wmk 2
shen, jj 2
shieh, j 2
shipman, h 2
shotelersuk, vorasuk 2
shuman, c 2
silver, r 2
skinner, c 2
so, jcc 2
soares, g 2
splitt, m 2
spruijt, l 2
stegmann, apa 2
stevens, c 2
stevens, sjc 2
steyaert, w 2
stolerman, e 2
sun, liangdan 2
superti-furga, a 2
suphapeetiporn, kanya 2
sutcliffe, js 2
symoens, s 2
syx, d 2
sznajer, y 2
tam, paul kwong hang 2
tam, t 2
tam, wk 2
tan, es 2
tan, ty 2
tang, hmv 2
tang, lyf 2
tang, mh 2
tao, v 2
taylor, g 2
thauvin-robinet, c 2
thiel, c 2
thomas, era 2
tong, kwok lung 2
toutain, a 2
troyer, c 2
trubnykova, m 2
tse, niko kei chiu 2
tso, w 2
tsoi, c 2
tung, jyl 2
turner, l 2
uddin, m 2
van damme, t 2
van karnebeek, cdm 2
van kraaij, s 2
vardhanabhuti, v 2
vardy, c 2
veenstra-knol, he 2
viero, s 2
vincent, jb 2
viskochil, d 2
waggoner, d 2
wang, w 2
weiss, la 2
whitten, k 2
willis, b 2
wolfe, la 2
wollnik, b 2
wong, ghy 2
wong, ick 2
wong, kt 2
wong, raymond woon sing 2
wong, rms 2
wong, sik nin 2
wong, sy 2
wong, wilfred hing sang 2
wusik, k 2
xu, w 2
yang, jing 2
yang, sen 2
yang, wanling 2
yang, x 2
yau, mm 2
ye, dong qing 2
yeung, a 2
yeung, ccw 2
ying, dingge 2
ying, shirley king yee 2
yip, cyw 2
young, pht 2
yu, fny 2
yu, tw 2
yung, wk 2
zackai, e 2
zeng, s 2
zeng, shuai 2
zhang, jing 2
zhang, lu 2
zhang, s 2
zhang, x 2
zhang, xj 2
zhang, xue jun 2
zhang, yan 2
zhao, c 2
aad, verrips 1
abarca-barriga, hh 1
abbott, km 1
abbott, ma 1
abdul-rahman, o 1
abe, y 1
abellar, rg 1
abidi, f 1
abrahams, bs 1
accogli, a 1
adachi-fukuda, m 1
adams, d 1
adelstein, rs 1
afenjar, a 1
agada, s 1
agbahovbe, r 1
agerbo, e 1
ahmed, h 1
akdemir, kc 1
alanay, t 1
albanese, a 1
alcantara, d 1
ali, a 1
ali, m 1
aliku, t 1
allain, dc 1
allanson, j 1
alman, b 1
almannai, m 1
almeida, j 1
alotaibi, m 1
als, td 1
alsina, fc 1
altmuller, j 1
alvarez, s 1
ambalavanan, n 1
ambrose, jc 1
amemiya, ar 1
amodio, d 1
amor, dj 1
an, j 1
an, jy 1
anddrade, dm 1
andelfinger, g 1
anderlid, bm 1
anderson, sa 1
appadurai, v 1
apple, b 1
aradhya, s 1
arango, c 1
arasi, s 1
aravena, t 1
araya, mp 1
arbuckle, s 1
artomov, m 1
arumugam, p 1
arzimanoglou, a 1
asamoah, a 1
ashaat, na 1
au, m 1
au, pyb 1
augustijn, pb 1
autism sequencing consortium 1
auvin, s 1
avela, k 1
avila, m 1
aziz, c 1
baban, a 1
babovic-vuksanovic, d 1
babul-hirji, r 1
bacchelli, e 1
bader, gd 1
baekvad-hansen, m 1
baere, ed 1
bailey, aj 1
baird, g 1
baker, k 1
baker, l 1
bakkers, j 1
balasubramanian, m 1
banka, s 1
baptista, julia 1
barbosa, m 1
barge-schaapveld, dqcm 1
barnett, cp 1
barnshad, mj 1
barone pritchard, a 1
barone, a 1
barone, r 1
barrett, elizabeth ann 1
barry, j 1
bartocci, m 1
basel, d 1
bassetti, ja 1
basu, s 1
bateman, da 1
batista, lc 1
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beck, ae 1
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bishop, s 1
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blanchard-rohner, g 1
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burton, je 1
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bölte, s 1
caignec, cl 1
callebe, a 1
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campbel, c 1
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campo, md 1
cancrini, c 1
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cantor, rm 1
cao, g 1
care4rare canada consortium 1
carey, ce 1
carlston, c 1
carson, ar 1
carter, m 1
carter, mt 1
carvalho, cmb 1
casallo, g 1
casanova, jl 1
casey, b 1
casey, j 1
cathey, s 1
caulfield, mj 1
cerrato, f 1
cetica, v 1
chad, l 1
chae, jh 1
chak, wk 1
cham breaba, wm 1
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chambert, k 1
chan, a 1
chan, ayl 1
chan, cf 1
chan, chad w n 1
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chan, dhc 1
chan, dkh 1
chan, esther w y 1
chan, eyh 1
chan, fl 1
chan, gc 1
chan, gsw 1
chan, hb 1
chan, hoi yan celia 1
chan, jcm 1
chan, joshua c k 1
chan, joshua chun ki 1
chan, joyce pui kwan 1
chan, kit wa sherry 1
chan, linda 1
chan, lw 1
chan, m k karen 1
chan, r 1
chan, s 1
chan, s 1
chan, siu ling polly 1
chan, so ching sarah 1
chan, ssy 1
chan, tak mao 1
chan, tak mao 1
chan, tk 1
chan, tm 1
chan, tm 1
chan, wk 1
chan, wll 1
chan, y 1
chan, yk 1
chan, yla 1
chang, sk 1
chang, skr 1
chang-ashtiani, m 1
charles, p 1
chavez p, m 1
chavez pastor, m 1
chawla, j 1
chee, wy 1
chelly, j 1
chen, julie 1
chen, rh 1
chen, ruoyan 1
chen, yh 1
chen, yx 1
cheng, cv 1
cheng, h 1
cheng, kf 1
cheng, kkf 1
cheng, sw 1
cheong, kn 1
chern, jps 1
cheuk, kld 1
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cheung, oy 1
cheung, sn 1
cheung, sw 1
chiang, jpw 1
chien, yh 1
chim, s 1
chin, r 1
chitrakar, ns 1
chitty, ls 1
cho, m 1
choi, m 1
chong, pcy 1
chong, scj 1
chong, yin kei doris 1
chonufani, s 1
chopra, m 1
chou, yy 1
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ohashi-fukuda, n 1
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the code study collaborators 1
the ywhag study group, 1
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ting, sh 1
tipoe, george l 1
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tsang, mandy 1
tsao, sabrina 1
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tse, cta 1
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tso, wan-yee winnie 1
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tsung, ly 1
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tung, joanna yuet ling 1
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university of washington center for mendelian genomics 1
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utari, a 1
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Keywords in Publications
keywordsNo. of Authors
interprofessional education 28
partnership model 28
social interaction anxiety 28
chinese 18
child 14
humans 14
adolescent 12
adult 12
female 12
hong kong 12
male 12
child, preschool 11
developmental delay 10
congenital heart disease 9
dna methylation 9
infant 9
sle 9
whole exome sequencing 9
drug regulatory 8
dysmorphism 8
health equity 8
orphan drug policy 8
phenotyping 8
prenatal exome 8
rare diseases 8
retrospective studies 8
treatment access 8
variants of unknown clinical significance 8
epistasis 7
ets1 7
founder mutation 7
il-17 7
22q11.2 deletion 6
22q11.2 deletion syndrome (22q11.2ds) 6
array comparative genomic hybridization 6
blood 6
cell composition 6
cell lineage-specific 6
conotruncal anomaly 6
lupus 6
methylationepic 6
paediatric-onset 6
prenatal diagnosis 6
alport's syndrome 5
bronchiectasis 5
chinese children 5
clinical genetics and dysmorphology 5
cohort studies 5
congenital malformations 5
cystic fibrosis 5
esophageal leiomyoma 5
exome sequencing 5
intellectual disability 5
medical sciences 5
pediatrics 5
pik3ca 5
somatic mosaicism 5
trafficking defects 5
*locomotion 4
activities of daily living/*classification 4
analysis of variance 4
anisotropy 4
anti-bacterial agents - therapeutic use 4
aortic stenosis 4
array comparative genomic hybridization (acgh) 4
autism spectrum disorder (asd) 4
autoimmune diseases 4
autoimmune diseases - epidemiology - ethnology 4
bacterial infections - epidemiology - ethnology 4
case-control studies 4
cerebral palsy/*diagnosis/epidemiology/rehabilitation 4
chemicals and cas registry numbers 4
children 4
china 4
chromosomal microarray 4
chromosome 17p13.3 4
chromosome aberration 4
chromosome15q13.3 deletion 4
copy number variations (cnvs) 4
cross-sectional studies 4
culture 4
diffusion magnetic resonance imaging 4
diffusion tensor magnetic resonance imaging 4
disability evaluation 4
dpp10 4
genetic counseling 4
genetic testing 4
genome sequencing 4
hand - physiopathology 4
hong kong/epidemiology 4
hospitalization - statistics & numerical data 4
immunodeficiency 4
immunoglobulins 4
imprinting 4
infarction, middle cerebral artery - complications - diagnosis - physiopathology 4
internal capsule - pathology 4
klebsiella infections - complications - drug therapy - epidemiology 4
klebsiella pneumoniae - drug effects 4
mental retardation/*diagnosis/epidemiology 4
mesencephalon - pathology 4
microcephaly 4
microduplication 4
movement 4
nervous system - physiopathology 4
neurologic examination/*statistics & numerical data 4
neuromotor outcome 4
neutropenia 4
neutropenia - epidemiology - ethnology 4
pacs1 variant 4
paediatric infarction 4
paresis - etiology - physiopathology 4
paternal upd 4
prader-willi syndrome 4
prevalence 4
pulmonary interstitial glycogenosis 4
pyramidal tracts - pathology 4
risk factors 4
schuurs‐hoeijmakers syndrome 4
self care/classification/*statistics & numerical data 4
sensitivity and specificity 4
statistics as topic 4
stroke 4
thalassemia - complications 4
uniparental sisomy 4
upd19 4
wallerian degeneration 4
wallerian degeneration - diagnosis - etiology 4
wiskott-aldrich syndrome 4
*asian continental ancestry group 3
17p13.3 copy number gain 3
agenesis of the corpus callosum 3
amino acid conservation 3
amino acid sequence 3
array cgh 3
autism 3
autism spectrum disorder 3
autosome translocation 3
breastfeeding 3
catheterization, central venous 3
central venous catheter blockage 3
charge syndrome 3
chkb 3
clinical genetics 3
coding mutation 3
coffin-siris syndrome 3
cost effectiveness analysis 3
cost saving 3
craniofacial defects 3
cultural awareness 3
discourse analysis 3
dna mutational analysis 3
drug-exposed infants 3
elongation factor tu gtp-binding domain containing 2 3
empirical data 3
evolutionary distance 3
facial dysostosis 3
fbn1 3
functional impact 3
functional independence measure for children 3
genetic counseling and training 3
genetics 3
genome-wide dna methylation microarray 3
giant mitochondria 3
haematopoietic stem cell transplant 3
health professionals 3
heterotaxy syndrome 3
infant, newborn 3
information provision 3
inherited thrombophilic factors 3
integrated approach 3
klhl40 3
kw029 - clinical history 3
kw042 - diagnostics 3
kw046 - dysmorphology 3
kw085 - haplotype 3
kw141 - population genetics 3
kw154 - respiratory system 3
kw158 - skeletal system 3
kw160 - snp analysis/discovery 3
lactation 3
macrocephaly 3
magnetic resonance imaging 3
malignancy 3
mandibulofacial dysostosis type guion-almeida 3
mandibulofacial dysostosis with microcephaly 3
marfan syndrome 3
marfan syndrome - genetics 3
megaconial cmd 3
megaconial congenital muscular dystrophy 3
megalencephaly 3
microdeletion 3
microfilament proteins - genetics 3
middle aged 3
minor anomalies 3
mitochondrial diseases 3
molecular sequence data 3
morphogenesis 3
mtor 3
muscle biopsy 3
mutation screening 3
mutation, missense 3
nemaline myopathy 3
neoplasms - metabolism - therapy 3
neuromuscular disorders 3
nssnp 3
parental decisions 3
pediatric‐onset 3
phenotype 3
pik3ca-related overgrowth spectrum 3
ppp2r5d 3
pregnancy termination 3
prenatal test 3
protein-serine-threonine kinases - genetics 3
pten 3
rapid 3
receptors, transforming growth factor beta - genetics 3
references (11) view in table layout 3
sequence homology, amino acid 3
sex chromosome aneuploidy 3
social behavior 3
spinal muscular atrophy 3
split hand malformation 3
syndrome 3
teratology 3
tgfbr2 3
thrombophilia - metabolism 3
whole‐exome sequencing 3
x 3
x chromosome inactivation 3
young adult 3
*attitude to health 2
*awareness 2
*public opinion 2
*questionnaires 2
adenoviridae infections - complications 2
age of onset 2
amplatzer septal occluder 2
anticonvulsants/*adverse effects 2
asia 2
attention 2
autistic disorder/*diagnosis 2
balanced chromosomal abnormalities 2
beckwith-wiedemann syndrome 2
brain - pathology 2
brain diseases, metabolic - diagnosis - genetics 2
brain edema/epidemiology/virology 2
brain mri 2
brain stem - pathology 2
carbamazepine/*adverse effects 2
cardiovascular disease 2
cerebellum 2
china/ethnology 2
chromosome microarray 2
chronic health conditions 2
cilia 2
clinical assessment 2
coffin–lowry syndrome 2
collaborative research 2
communicable diseases 2
communication research 2
congenital hyperinsulinism 2
copy number variation 2
cost-benefit analysis 2
craniofacial development 2
cross-cultural comparison 2
csnk2a1 2
cultural diversity 2
data collection 2
de novo mutation 2
deletion 2
developmental delay (dd) 2
dna-binding proteins/*genetics 2
down syndrome 2
droplet digital pcr 2
dynein cytoplasmic 1 heavy chain 1 (dync1h1) gene 2
empirical research 2
encephalitis, viral/epidemiology/etiology 2
epidermal necrolysis, toxic/*drug therapy/*etiology 2
epigenetics 2
epilepsy 2
epilepsy/ethnology/*psychology 2
evidence based 2
exome 2
follow-up studies 2
genetic counseling training 2
genetic counseling/consultation 2
global developmental delay 2
global developmental delay (gdd) 2
glucocorticoids/*administration & dosage 2
gonadal mosaicism 2
gonosomal mosaicism 2
health literacy 2
health utility index 2
health-related quality of life 2
hospitalization 2
hyperglycinemia, nonketotic - diagnosis - genetics 2
hyperinsulinism 2
incidence 2
inflation analysis 2
influenza, human - complications 2
influenza, human/*complications/epidemiology 2
infusions, intravenous 2
intellectual disability (id) 2
isomerism 2
karyotype 2
kidney 2
kw106 - mental retardation 2
kw109 - methylation 2
kw123 - neurogenetics 2
language 2
likelihood ratio model 2
long read sequencing 2
mass screening 2
mctt syndrome 2
mental retardation (mr) 2
methylprednisolone/*administration & dosage 2
mn1 2
muscle mri 2
mutation analysis 2
mutation/*genetics 2
myopathies 2
nerve fibers, myelinated - pathology 2
neurology 2
neuromuscular diseases 2
okur-chung syndrome 2
oral poliomyelitis vaccine 2
parental mosaicism 2
partial developmental delay (pardd) 2
pediatric‐onset drug‐resistant epilepsy 2
phenotypic variability 2
play and playthings 2
poliomyelitis 2
professional training 2
pulse therapy, drug 2
rare disease 2
recurrence 2
recurrence risk 2
registries 2
religion 2
renal failure 2
respiratory insufficiency/*genetics 2
rhombencephalosynapsis 2
rps6ka3 2
secundum atrial septal defect 2
seizures, febrile - genetics - virology 2
seizures, febrile/*epidemiology/ethnology/etiology 2
seizures, febrile/epidemiology/*virology 2
shdra 2
south-east asia 2
spinal muscular atrophies of childhood/complications/*diagnosis/*genetics 2
spinal muscular atrophy with lower extremity predominance (smaled) 2
spinocerebellar ataxia 2
stroke/*ethnology/etiology 2
structural heart defects and renal anomalies syndrome 2
tgm6 2
tmem260 2
transcatheter closure 2
transcription factors/*genetics 2
truncus arteriosus 2
united states/epidemiology 2
upd11 2
vaccine-associated paralytic poliomyelitis 2
virus diseases - complications 2
was 2
wasp 2
zebrafish 2
22q11.2 deletion syndrome 1
2q23.1 microduplication 1
9q34.3 deletion 1
ablepharon-macrostomia syndrome 1
abnormalities, multiple - diagnosis - genetics 1
abnormalities, multiple - genetics - pathology 1
acromelic dysplasia 1
acromicric dysplasia 1
acvr1 1
africa 1
agenesis of corpus callosum (acc) 1
albright syndrome 1
alms1 1
alstrom syndrome 1
alu repetitive elements 1
amniotic bands 1
anthropometric 1
arcl2 1
arid1b 1
array-cgh 1
arthrogryposis multiplex congenita 1
asia pacific 1
asphyxia - diagnosis - genetics 1
asphyxiating thoracic dystrophy 1
asxl3 1
atp6v1a 1
atp6v1e1 1
autism spectrum disorders 1
autosomal recessive 1
bainbridge-ropers syndrome 1
barber-say syndrome 1
bias 1
biology 1
body satisfaction 1
brachydactyly 1
brain malformation 1
brps 1
cardiac 1
cardiac defects 1
cardiofaciocutaneous syndrome 1
case report 1
case series 1
cdg 1
cell movement 1
cell type 1
cellular trafficking 1
cerebellar hypoplasia 1
cesarean section - methods 1
cgh microarray 1
channelopathy 1
child development disorders, pervasive - diagnosis - genetics 1
child development disorders, pervasive - genetics - pathology - physiopathology 1
childhood epilepsy 1
chondroitin sulfate 1
chromosome 1
chromosome 10p11.22 1
chromosome analysis 1
chromosome deletion 1
chromosome x duplication 1
chromosomes, human, pair 16 1
chromosomes, human, pair 2 - genetics 1
ciliary motility disorders - diagnosis - genetics 1
clinical article 1
clinical evaluation 1
clinical features 1
clinical outcome 1
clinical practice guidelines 1
cloves syndrome 1
club feet 1
coenzyme q10 1
coffin–siris syndrome 1
cohen‐gibson syndrome 1
collagen type 1 1
complex genomic rearrangement 1
congenital disorder of glycosylation 1
congenital disorders 1
congenital disorders of glycosylation 1
congenital heart defects 1
conotruncal 1
controlled study 1
coq10 1
coq10 supplementation 1
coq7 1
corneal dystrophy 1
corpus callosum 1
cortical development 1
costello syndrome 1
covid-19 1
cpap 1
ctnnb1 1
cutis laxa 1
cystic kidneys 1
cytoprotection 1
cytoskeleton 1
dandy-walker malformation 1
ddx3x 1
developmental and epileptic encephalopathy 1
developmental disabilities - genetics - pathology 1
diabetes 1
diagnostic value 1
diaphragm/diagnostic imaging 1
digeorge syndrome 1
digital droplet pcr 1
disease burden 1
diverse populations 1
dna copy number variations - genetics 1
dna methylation signature 1
dna-binding proteins - genetics 1
doxycycline 1
dup(x)(p11.22-p11.23) 1
ectopia cordis 1
eed 1
egfr 1
ehmt1 1
encephalo-myo-nephro-cardiopathy 1
encephalocele 1
enoxaparin 1
ethnic specific 1
europe - ethnology 1
excitatory neurons 1
excitatory-inhibitory balance 1
facial analysis technology 1
failure to thrive 1
familial exudative vitreoretinopathy 1
fetus 1
fibrodysplasia ossificans progressiva 1
fop 1
forehead 1
geleophysic dysplasia 1
gene burden 1
gene deletion 1
gene dosage - genetics 1
gene duplication 1
genes 1
genes, ras 1
genetic counselling 1
genetic diagnosis 1
genetic predisposition to disease - genetics 1
genome-wide association study 1
genomic diversity 1
genotype–phenotype correlation 1
glioma 1
glycoside 1
gnb5 1
golgi apparatus 1
growth 1
h3k4 methylation 1
hand malformations 1
health disparities 1
helicase 1
hemangiopericytoma - blood supply - diagnosis 1
hirschsprung disease 1
homozygote 1
hong kong genome project 1
hras mutation 1
hypertension, renovascular 1
hypertrichosis 1
hypoplastic left heart 1
icd-10 1
immune suppression 1
infants -- nutrition. 1
inpatient cost 1
insulin resistance 1
intrauterine growth restriction 1
introduction 1
jeune syndrome 1
joubert syndrome 1
kdm5c 1
kleefstra syndrome 1
kmt2a 1
kw008 - bioinformatics 1
kw021 - characterization of syndromes 1
kw032 - congenital anomaly 1
kw040 - development 1
kw099 - malformation 1
kw107 - intellectual and developmental disability 1
kw110 - methylation 1
kw134 - phenotype 1
kw181 - x-linked disease 1
latin america 1
learning disability 1
leigh syndrome 1
limb anomalies 1
lipoatrophy 1
lipomatosis/genetics 1
loeys-dietz syndrome 1
mbd5 1
mbd5 gene 1
meta-analysis 1
metalloproteinase (mmp) 1
microdeletion 2q23.1 1
middle east 1
mitochondrial disease 1
mitochondrial oxidative phosphorylation 1
mll1 1
molar tooth sign 1
molecular genetics 1
movement disorders 1
mowat–wilson syndrome 1
multiple system atrophy 1
mutation hotspot 1
neurocutaneous syndromes/diagnosis 1
neurodegeneration 1
neurogenetics and neurodegeneration 1
nitric oxide 1
noonan syndrome 1
noonan syndrome with multiple lentigines syndrome 1
notch1 1
nucleotide sugar transporter 1
nutritional status 1
orphacodes 1
overgrowth 1
overgrowth syndromes 1
pacs1 1
paediatrics 1
parietal bone - abnormalities - embryology - ultrastructure 1
patient perception 1
physical measurements 1
pik3r1 gene 1
polycomb repressive complex 2 1
pregnancy 1
pregnancy -- nutritional aspects. 1
proto-oncogene 1
pseudohypoparathyroidism 1
psychiatric genetics 1
psychosocial functioning 1
ptchd1 1
quadruplication 1
radiography, thoracic 1
rare disease organisation 1
rare disease patients 1
rasopathies 1
rasopathy 1
recessive 1
recurrent mutation 1
renal cystic dysplasia 1
renal-artery obstruction 1
sequence analysis, dna 1
shank3 1
short stature 1
short syndrome 1
signal transduction 1
signature 1
skeletal abnormalities 1
skeletal dysplasia 1
snps 1
somatic mutation 1
special issue 1
spike-wave eeg 1
split-hand malformation 1
stromelysin 1
suz12 1
suz12‐related overgrowth 1
syndromic intellectual disability 1
syndromic short stature 1
tam-spp1 1
tele-genetic counselling 1
tele-genetics 1
telemedicine 1
thematic analysis 1
thorax - abnormalities 1
tissue inhibitor of metalloproteinase 1 1
tissue inhibitors of metalloproteinase (timp) 1
tongue - abnormalities 1
training 1
treatment 1
trichotillomania 1
trisomy 21 1
tumor-associated macrophages 1
turner syndrome 1
ubiquinone 1
udp-galactose 1
ulnar neuropathies 1
undiagnosed 1
v-atpase 1
vacterl h syndrome 1
velocardiofacial syndrome 1
ventral midline defect 1
weaver syndrome 1
whole-exome sequencing 1
williams 1
williams–beuren 1
wilms tumor 1
x chromosome linked disorder 1
x-linked 1
zeb1 1
zeb2 1
zic3 gene 1
临床遗传医师 1
临床遗传学 1
医学遗传学 1
培训 1
培训基地 1
培训计划 1
建议 1
考核认证 1
资格认定 1
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Keywords in Grants
keywordsNo. of Investigators
biliary atresia, disease-mechanism discoveries, newborn liver disease 8
children, epigenomics, hepatoblastoma, hepatocellular carcinoma, prognosis, stratification 6
malformation, prenatal, structural congenital, whole-exome 6
children, conditions, genetic, genomic, medicine, testing 5
association study, complex disease, genetics, genomics, systemic lupus erythematosus 4
cell lineage-specific, early-onset sle, epigenetics, whole genome dna methylation, whole genome expression study 4
cns tumors, dna methylation array, liquid biopsy, next-generation sequencing, pediatrics, solid tumors 4
diagnostic, dna-methylation, embryonal, frontline, nervous, tumors 4
dma methylation, rare disease, rna-seq, transcriptome, undiagnosed disease 4
exome sequencing, genetic screening, immunodeficiencies, ngs, scid, t lymphocytes 4
artificial intelligence, neurobiology, neuromedicine, genomic medicine, mental disorders 4
autism, cnvs, genetic studies, multiplex family, snps 3
birth defects/genetic conditions, in hong kong, provision of molecular diagnosis 3
childhood onset, chinese, neuromuscular disorder, next generation 3
discourse analysis, family decision-making, genetic counselling, risk communication, uncertainty 3
dna methylation, epigenetics, sle 3
epigenetics, sle, whole genome dna methylation 3
imprinting growth disorder 3
paediatrics 3
diabetes, obesity, physical activity, genetic risk, wearable devices 3
epilepsy, developmental and epileptic encephalopathies, dee, rna sequencing, rna-seq 3
analytical validity, balanced chromosomal, clinical utility, whole genome 2
autism spectrum, comprehensive, genetic evaluation, hong kong 2
chinese, conotruncal, patients, variations 2
dhplc, marfan syndrome, tgfbr2 2
genetic disorders 2
mosaicism, pik3ca, pik3ca-related overgrowth spectrum, somatic overgrowth 2
mutation 2
abr, cerebellar hypoplasia, gtp-binding proteins, rac protein, wes, whole exome sequencing 1
abr, cerebellar hypoplasia, homozygous 1
autism specrtum disorder, dpp10 1
balanced chromosomal translocation, neurodevelopmental disorders, ongenital anomalies, whole genome sequencing 1
ciliopathy, heterotaxy, whole exome sequencing, zebrafish 1
cost-effectiveness, diagnostic, infants, neonates, sequencing, whole-exome 1
disease burden, economic burden, genetics, rare disease, societal impact, socio-economic 1
disease burden, health-related quality of life, hong kong, rare disease, societal costs, socio-economic burden 1
dna methylation, early-onset, epigenetics, sle 1
dna methylation, histone modification, intellectual disability, jarid1c 1
dna methylation, trisomy x, x chromosome inactivation 1
heterotaxy, vacterl-h syndrome, zic3 1
ish 1
marfan syndrome 1
metalloproteinase, overgrowth, t1mp1 1
ngs 1
rare diseases and genetic disorders 1
smad3 1
undiagnosed disease 1
upd19 1
wes 1
null 1
rna sequencing, prenatal diagnosis, amniotic fluid, congenital anomalies, mendelian disorders 1
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