-
2
-
-
79959276553
-
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
-
Berg JS, Khoury MJ, Evans J P. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med 2011;13:499-504.
-
(2011)
Genet Med
, vol.13
, pp. 499-504
-
-
Berg, J.S.1
Khoury, M.J.2
Evans, J.P.3
-
3
-
-
84867724867
-
An informatics approach to analyzing the incidentalome
-
Berg JS, Adams M, Nassar N, et al. An informatics approach to analyzing the incidentalome. Genet Med 2013;15:36-44.
-
(2013)
Genet Med
, vol.15
, pp. 36-44
-
-
Berg, J.S.1
Adams, M.2
Nassar, N.3
-
4
-
-
84887474444
-
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium
-
Berg JS, Amendola LM, Eng C, et al.; Members of the CSER Actionability and Return of Results Working Group. Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med 2013;15:860-867.
-
(2013)
Genet Med
, vol.15
, pp. 860-867
-
-
Berg, J.S.1
Amendola, L.M.2
Eng, C.3
-
5
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green RC, Berg JS, Grody WW, et al.; American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565-574.
-
(2013)
Genet Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
-
6
-
-
84871406132
-
The Informed Cohort Oversight Board: From Values to Architecture
-
Holm IA, Taylor PL. The Informed Cohort Oversight Board: From Values to Architecture. Minn J Law Sci Technol 2012;13:669-690.
-
(2012)
Minn J Law Sci Technol
, vol.13
, pp. 669-690
-
-
Holm, I.A.1
Taylor, P.L.2
-
7
-
-
84881420673
-
Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics
-
van El CG, Cornel MC, Borry P, et al.; ESHG Public and Professional Policy Committee. Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. Eur J Hum Genet 2013;21:580-584.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 580-584
-
-
Van El, C.G.1
Cornel, M.C.2
Borry, P.3
-
8
-
-
84877263085
-
Preserving personal autonomy in a genomic testing era
-
Lindor NM, Johnson KJ, McCormick JB, Klee EW, Ferber MJ, Farrugia G. Preserving personal autonomy in a genomic testing era. Genet Med 2013;15:408-409.
-
(2013)
Genet Med
, vol.15
, pp. 408-409
-
-
Lindor, N.M.1
Johnson, K.J.2
McCormick, J.B.3
Klee, E.W.4
Ferber, M.J.5
Farrugia, G.6
-
9
-
-
84877266647
-
Response to Lindor et al
-
Berg JS. Response to Lindor et al. Genet Med 2013;15:409-410.
-
(2013)
Genet Med
, vol.15
, pp. 409-410
-
-
Berg, J.S.1
-
10
-
-
84883856709
-
Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies
-
Goddard KA, Whitlock E P, Berg JS, et al. Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies. Genet Med 2013;15:721-728.
-
(2013)
Genet Med
, vol.15
, pp. 721-728
-
-
Goddard, K.A.1
Whitlock, E.P.2
Berg, J.S.3
-
11
-
-
84887439425
-
Recommendations for returning genomic incidental findings? We need to talk!
-
Burke W, Antommaria AH, Bennett R, et al. Recommendations for returning genomic incidental findings? We need to talk! Genet Med 2013;15:854-859.
-
(2013)
Genet Med
, vol.15
, pp. 854-859
-
-
Burke, W.1
Antommaria, A.H.2
Bennett, R.3
-
12
-
-
84881425023
-
Premature guidance about whole-genome sequencing
-
Ross L F, Rothstein MA, Clayton EW. Premature guidance about whole-genome sequencing. Per Med 2013;10.
-
(2013)
Per Med
, vol.10
-
-
Ross, L.F.1
Ma, R.2
Clayton, E.W.3
-
13
-
-
84878364688
-
Point-counterpoint. Patient autonomy and incidental findings in clinical genomics
-
Wolf SM, Annas GJ, Elias S. Point-counterpoint. Patient autonomy and incidental findings in clinical genomics. Science 2013;340:1049-1050.
-
(2013)
Science
, vol.340
, pp. 1049-1050
-
-
Wolf, S.M.1
Annas, G.J.2
Elias, S.3
-
14
-
-
84855843599
-
-
University of Washington: Seattle, WA, 1993-2014
-
Pagon RA, Adam M P, Ardinger HH et al., eds. GeneReviews. University of Washington: Seattle, WA, 1993-2014.
-
GeneReviews
-
-
Pagon, R.A.1
Adam, M.P.2
Ardinger, H.H.3
-
15
-
-
84885295208
-
Actionable pathogenic incidental findings in 1 000 participants' exomes
-
Dorschner MO, Amendola LM, Turner EH, et al.; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project. Actionable, pathogenic incidental findings in 1, 000 participants' exomes. Am J Hum Genet 2013;93:631-640.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 631-640
-
-
Dorschner, M.O.1
Amendola, L.M.2
Turner, E.H.3
-
16
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
Johnston JJ, Rubinstein WS, Facio FM, et al. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet 2012;91:97-108.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 97-108
-
-
Johnston, J.J.1
Rubinstein, W.S.2
Facio, F.M.3
-
17
-
-
84991491933
-
The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience
-
Lawrence L, Sincan M, Markello T, et al. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med 2014;16:741-750.
-
(2014)
Genet Med
, vol.16
, pp. 741-750
-
-
Lawrence, L.1
Sincan, M.2
Markello, T.3
-
18
-
-
77957587770
-
Fatty acid oxidation disorders: Outcome and long-term prognosis
-
Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis 2010;33:501-506.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 501-506
-
-
Wilcken, B.1
-
19
-
-
0034011564
-
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
-
Järvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000;118:829-834.
-
(2000)
Gastroenterology
, vol.118
, pp. 829-834
-
-
Järvinen, H.J.1
Aarnio, M.2
Mustonen, H.3
-
20
-
-
34250869487
-
Marfan syndrome: Clinical diagnosis and management
-
Dean JC. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet 2007;15:724-733.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 724-733
-
-
Dean, J.C.1
-
21
-
-
79959332777
-
Efficacy of statins in familial hypercholesterolaemia: A long term cohort study
-
Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ 2008;337:a2423.
-
(2008)
BMJ
, vol.337
, pp. a2423
-
-
Versmissen, J.1
Oosterveer, D.M.2
Yazdanpanah, M.3
-
22
-
-
84964814467
-
-
National Hemophilia Foundation. MASAC Recommendation Concerning Prophylaxis (Regular Administration of Clotting Factor Concentrate to Prevent Bleeding) Accessed 2 December 2014
-
National Hemophilia Foundation. MASAC Recommendation Concerning Prophylaxis (Regular Administration of Clotting Factor Concentrate to Prevent Bleeding). http://www.hemophilia.org/sites/default/files/document/files/masac179.pdf. Accessed 2 December 2014.
-
-
-
-
23
-
-
79959547265
-
Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases
-
Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS; American Association for the Study of Liver Diseases. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011;54:328-343.
-
(2011)
Hepatology
, vol.54
, pp. 328-343
-
-
Bacon, B.R.1
Adams, P.C.2
Kowdley, K.V.3
Powell, L.W.4
Tavill, A.S.5
-
24
-
-
84885112466
-
PTEN hamartoma tumor syndrome (PHTS)
-
Pagon RA Adam M P Ardinger HH et al. eds. University of Washington: Seattle WA
-
Eng C. PTEN hamartoma tumor syndrome (PHTS). In: GeneReviews® [Internet], Pagon RA, Adam M P, Ardinger HH et al., eds. University of Washington: Seattle, WA, 2014.
-
(2014)
GeneReviews® [Internet]
-
-
Eng, C.1
-
25
-
-
84856336999
-
Guidelines for the diagnosis and management of catecholaminergic polymorphic ventricular tachycardia
-
Pflaumer A, Davis AM. Guidelines for the diagnosis and management of catecholaminergic polymorphic ventricular tachycardia. Heart Lung Circ 2012;21:96-100.
-
(2012)
Heart Lung Circ
, vol.21
, pp. 96-100
-
-
Pflaumer, A.1
Davis, A.M.2
-
26
-
-
84886992875
-
Flecainide therapy suppresses exercise-induced ventricular arrhythmias in patients with CASQ2-associated catecholaminergic polymorphic ventricular tachycardia
-
Khoury A, Marai I, Suleiman M, et al. Flecainide therapy suppresses exercise-induced ventricular arrhythmias in patients with CASQ2-associated catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2013;10:1671-1675.
-
(2013)
Heart Rhythm
, vol.10
, pp. 1671-1675
-
-
Khoury, A.1
Marai, I.2
Suleiman, M.3
-
27
-
-
84992085185
-
Hypertrophic cardiomyopathy overview
-
Pagon RA, Adam M P, Ardinger HH et al., eds. University of Washington: Seattle, WA
-
Cirino AL, Ho C. Hypertrophic cardiomyopathy overview. In: GeneReviews, Pagon RA, Adam M P, Ardinger HH et al., eds. University of Washington: Seattle, WA, 2014.
-
(2014)
GeneReviews
-
-
Cirino, A.L.1
Ho, C.2
-
28
-
-
83555165877
-
2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: Executive summary: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines
-
Gersh BJ, Maron BJ, Bonow RO, et al.; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American Society of Echocardiography; American Society of Nuclear Cardiology; Heart Failure Society of America; Heart Rhythm Society; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation 2011;124:2761-2796.
-
(2011)
Circulation
, vol.124
, pp. 2761-2796
-
-
Gersh, B.J.1
Maron, B.J.2
Bonow, R.O.3
-
30
-
-
77950286198
-
Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder
-
Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010;133(Pt 3):655-670.
-
(2010)
Brain
, vol.133
, pp. 655-670
-
-
Leen, W.G.1
Klepper, J.2
Verbeek, M.M.3
-
31
-
-
0037085791
-
Incidence of venous thromboembolism in asymptomatic family members who are carriers of factor v Leiden: A prospective cohort study
-
Simioni P, Tormene D, Prandoni P, et al. Incidence of venous thromboembolism in asymptomatic family members who are carriers of factor V Leiden: a prospective cohort study. Blood 2002;99:1938-1942.
-
(2002)
Blood
, vol.99
, pp. 1938-1942
-
-
Simioni, P.1
Tormene, D.2
Prandoni, P.3
-
32
-
-
34249946741
-
Inherited thrombophilia: Key points for genetic counseling
-
Varga E. Inherited thrombophilia: key points for genetic counseling. J Genet Couns 2007;16:261-277.
-
(2007)
J Genet Couns
, vol.16
, pp. 261-277
-
-
Varga, E.1
-
33
-
-
79151480949
-
Malignant pheochromocytomas and paragangliomas -The importance of a multidisciplinary approach
-
Andersen K F, Altaf R, Krarup-Hansen A, et al. Malignant pheochromocytomas and paragangliomas -The importance of a multidisciplinary approach. Cancer Treat Rev 2011;37:111-119.
-
(2011)
Cancer Treat Rev
, vol.37
, pp. 111-119
-
-
Andersen, K.F.1
Altaf, R.2
Krarup-Hansen, A.3
-
34
-
-
0036731623
-
Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene
-
Young AL, Baysal BE, Deb A, Young WF Jr. Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. J Clin Endocrinol Metab 2002;87: 4101-4105.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4101-4105
-
-
Young, A.L.1
Baysal, B.E.2
Deb, A.3
Young, W.F.4
-
35
-
-
36049023534
-
Familial dysalbuminemic hyperthyroxinemia: Cumulative experience in 29 consecutive patients
-
Heufelder AE, Klee GG, Wynne AG, Gharib H. Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients. Endocr Pract 1995;1:4-8.
-
(1995)
Endocr Pract
, vol.1
, pp. 4-8
-
-
Heufelder, A.E.1
Klee, G.G.2
Wynne, A.G.3
Gharib, H.4
-
36
-
-
20244378963
-
Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome
-
Pavlovich C P, Grubb RL 3rd, Hurley K, et al. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol 2005;173:1482-1486.
-
(2005)
J Urol
, vol.173
, pp. 1482-1486
-
-
Pavlovich, C.P.1
Grubb, R.L.2
Hurley, K.3
-
38
-
-
84910107184
-
Glucokinase MODY and implications for treatment goals of common forms of diabetes
-
Ajjan RA, Owen KR. Glucokinase MODY and implications for treatment goals of common forms of diabetes. Curr Diab Rep 2014;14:559.
-
(2014)
Curr Diab Rep
, vol.14
, pp. 559
-
-
Ajjan, R.A.1
Owen, K.R.2
-
39
-
-
43149098040
-
Sanfilippo syndrome: A mini-review
-
Valstar MJ, Ruijter GJ, van Diggelen O P, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008;31:240-252.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 240-252
-
-
Valstar, M.J.1
Ruijter, G.J.2
Van Diggelen, O.P.3
Poorthuis, B.J.4
Wijburg, F.A.5
-
40
-
-
0033322618
-
Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma
-
Gimm O, Greco A, Hoang-Vu C, Dralle H, Pierotti MA, Eng C. Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma. J Clin Endocrinol Metab 1999;84:2784-2787.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 2784-2787
-
-
Gimm, O.1
Greco, A.2
Hoang-Vu, C.3
Dralle, H.4
Pierotti, M.A.5
Eng, C.6
|