-
1
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Y Yang DM Muzny JG Reid Clinical whole-exome sequencing for the diagnosis of mendelian disorders N Engl J Med 369 2013 1502 1511
-
(2013)
N Engl J Med
, vol.369
, pp. 1502-1511
-
-
Yang, Y1
Muzny, DM2
Reid, JG3
-
2
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
RC Green JS Berg WW Grody ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Genet Med 15 2013 565 574
-
(2013)
Genet Med
, vol.15
, pp. 565-574
-
-
Green, RC1
Berg, JS2
Grody, WW3
-
3
-
-
84885801095
-
Next-generation sequencing for clinical diagnostics
-
HJ Jacob Next-generation sequencing for clinical diagnostics N Engl J Med 369 2013 1557 1558
-
(2013)
N Engl J Med
, vol.369
, pp. 1557-1558
-
-
Jacob, HJ1
-
4
-
-
69549138124
-
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
PA van der Zwaag JD Jongbloed MP van den Berg A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy Hum Mutat 30 2009 1278 1283
-
(2009)
Hum Mutat
, vol.30
, pp. 1278-1283
-
-
van der Zwaag, PA1
Jongbloed, JD2
van den Berg, MP3
-
5
-
-
84875746938
-
Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?
-
JA Groeneweg PA van der Zwaag JD Jongbloed Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype? Heart Rhythm 10 2013 548 559
-
(2013)
Heart Rhythm
, vol.10
, pp. 548-559
-
-
Groeneweg, JA1
van der Zwaag, PA2
Jongbloed, JD3
-
6
-
-
84863116641
-
Truncations of titin causing dilated cardiomyopathy
-
DS Herman L Lam MR Taylor Truncations of titin causing dilated cardiomyopathy N Engl J Med 366 2012 619 628
-
(2012)
N Engl J Med
, vol.366
, pp. 619-628
-
-
Herman, DS1
Lam, L2
Taylor, MR3
-
7
-
-
84887439425
-
Recommendations for returning genomic incidental findings? We need to talk!
-
W Burke AH Matheny Antommaria R Bennett Recommendations for returning genomic incidental findings? We need to talk! Genet Med 15 2013 854 859
-
(2013)
Genet Med
, vol.15
, pp. 854-859
-
-
Burke, W1
Matheny Antommaria, AH2
Bennett, R3
-
8
-
-
84885295208
-
Actionable, pathogenic incidental findings in 1,000 participants' exomes
-
MO Dorschner LM Amendola EH Turner Actionable, pathogenic incidental findings in 1,000 participants' exomes Am J Hum Genet 93 2013 631 640
-
(2013)
Am J Hum Genet
, vol.93
, pp. 631-640
-
-
Dorschner, MO1
Amendola, LM2
Turner, EH3
-
9
-
-
84858276575
-
Analysis of DNA sequence variants detected by high-throughput sequencing
-
DR Adams M Sincan K Fuentes Fajardo Analysis of DNA sequence variants detected by high-throughput sequencing Hum Mutat 33 2012 599 608
-
(2012)
Hum Mutat
, vol.33
, pp. 599-608
-
-
Adams, DR1
Sincan, M2
Fuentes Fajardo, K3
-
10
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
RC Green JS Berg WW Grody ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Genet Med 15 2013 565 574
-
(2013)
Genet Med
, vol.15
, pp. 565-574
-
-
Green, RC1
Berg, JS2
Grody, WW3
-
11
-
-
11444264507
-
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
-
B Gerull A Heuser T Wichter Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy Nat Genet 36 2004 1162 1164
-
(2004)
Nat Genet
, vol.36
, pp. 1162-1164
-
-
Gerull, B1
Heuser, A2
Wichter, T3
-
12
-
-
46849110148
-
Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families
-
ER Behr C Dalageorgou M Christiansen Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families Eur Heart J 29 2008 1670 1680
-
(2008)
Eur Heart J
, vol.29
, pp. 1670-1680
-
-
Behr, ER1
Dalageorgou, C2
Christiansen, M3
-
13
-
-
85120234828
-
-
Illumina introduces the HiSeq X Ten Sequencing System. Press release by Illumina, January 14, 2014 (http://investor.illumina.com/phoenix.zhtml?c=121127&p=irol-newsArticle&ID=1890696&highlight).
-
-
-
|