-
1
-
-
84969292233
-
-
World Health Organization
-
World Health Organization. Global status report on noncommunicable diseases. [online], http://www. who. int/ nmh/publications/ncd-status-report-2014/en/ (2014).
-
(2014)
Global Status Report on Noncommunicable Diseases
-
-
-
2
-
-
17644361955
-
The NOD mouse: A model of immune dysregulation
-
Anderson, M. S. & Bluestone, J. A. The NOD mouse: A model of immune dysregulation. Annu. Rev. Immunol. 23, 447-485 (2005).
-
(2005)
Annu. Rev. Immunol.
, vol.23
, pp. 447-485
-
-
Anderson, M.S.1
Bluestone, J.A.2
-
3
-
-
80955170054
-
MODY: History, genetics, pathophysiology, and clinical decision making
-
Fajans, S. S. & Bell, G. I. MODY: history, genetics, pathophysiology, and clinical decision making. Diabetes Care 34, 1878-1884 (2011).
-
(2011)
Diabetes Care
, vol.34
, pp. 1878-1884
-
-
Fajans, S.S.1
Bell, G.I.2
-
4
-
-
34247880183
-
Neonatal diabetes mellitus: A disease linked to multiple mechanisms
-
Polak, M. & Cave, H. Neonatal diabetes mellitus: A disease linked to multiple mechanisms. Orphanet J. Rare Dis. 2, 12 (2007).
-
(2007)
Orphanet J. Rare Dis.
, vol.2
, pp. 12
-
-
Polak, M.1
Cave, H.2
-
5
-
-
0842285626
-
Mitochondrial diabetes: Molecular mechanisms and clinical presentation
-
Maassen, J. A. et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 53, S103-S109 (2004).
-
(2004)
Diabetes
, vol.53
, pp. S103-S109
-
-
Maassen, J.A.1
-
6
-
-
70349578557
-
The diagnosis and management of monogenic diabetes in children and adolescents
-
Hattersley, A., Bruining, J., Shield, J., Njolstad, P. & Donaghue, K. C. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr. Diabetes 10 (Suppl. 12), 33-42 (2009).
-
(2009)
Pediatr. Diabetes
, vol.10
, pp. 33-42
-
-
Hattersley, A.1
Bruining, J.2
Shield, J.3
Njolstad, P.4
Donaghue, K.C.5
-
7
-
-
79953808430
-
Role of molecular genetics in transforming diagnosis of diabetes mellitus
-
Molven, A. & Njolstad, P. R. Role of molecular genetics in transforming diagnosis of diabetes mellitus. Expert Rev. Mol. Diagn. 11, 313-320 (2011).
-
(2011)
Expert Rev. Mol. Diagn.
, vol.11
, pp. 313-320
-
-
Molven, A.1
Njolstad, P.R.2
-
8
-
-
58149335251
-
Learning from molecular genetics: Novel insights arising from the definition of genes for monogenic and type 2 diabetes
-
McCarthy, M. I. & Hattersley, A. T. Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes. Diabetes 57, 2889-2898 (2008).
-
(2008)
Diabetes
, vol.57
, pp. 2889-2898
-
-
McCarthy, M.I.1
Hattersley, A.T.2
-
9
-
-
84870663099
-
Monogenic models: What have the single gene disorders taught us?
-
Klupa, T., Skupien, J. & Malecki, M. T. Monogenic models: what have the single gene disorders taught us? Curr. Diab. Rep. 12, 659-666 (2012).
-
(2012)
Curr. Diab. Rep.
, vol.12
, pp. 659-666
-
-
Klupa, T.1
Skupien, J.2
Malecki, M.T.3
-
10
-
-
84940998194
-
New insights from monogenic diabetes for 'common' type 2 diabetes
-
Tallapragada, D. S., Bhaskar, S. & Chandak, G. R. New insights from monogenic diabetes for 'common' type 2 diabetes. Front. Genet. 6, 251 (2015).
-
(2015)
Front. Genet.
, vol.6
, pp. 251
-
-
Tallapragada, D.S.1
Bhaskar, S.2
Chandak, G.R.3
-
11
-
-
84896495719
-
Pathophysiology and treatment of type 2 diabetes: Perspectives on the past, present, and future
-
Kahn, S. E., Cooper, M. E. & Del Prato, S. Pathophysiology and treatment of type 2 diabetes: perspectives on the past, present, and future. Lancet 383, 1068-1083 (2014).
-
(2014)
Lancet
, vol.383
, pp. 1068-1083
-
-
Kahn, S.E.1
Cooper, M.E.2
Del Prato, S.3
-
12
-
-
0026590484
-
Pathogenesis of NIDDM. A balanced overview
-
DeFronzo, R. A., Bonadonna, R. C. & Ferrannini, E. Pathogenesis of NIDDM. A balanced overview. Diabetes Care 15, 318-368 (1992).
-
(1992)
Diabetes Care
, vol.15
, pp. 318-368
-
-
DeFronzo, R.A.1
Bonadonna, R.C.2
Ferrannini, E.3
-
13
-
-
84962305775
-
Therapeutic challenges in diabetes prevention: We have not found the 'exercise pill'
-
Srinivasan, S. & Florez, J. C. Therapeutic challenges in diabetes prevention: we have not found the 'exercise pill'. Clin. Pharmacol. Ther. 98, 162-169 (2015).
-
(2015)
Clin. Pharmacol. Ther.
, vol.98
, pp. 162-169
-
-
Srinivasan, S.1
Florez, J.C.2
-
14
-
-
78649322855
-
Maturity-onset diabetes of the young (MODY): How many cases are we missing?
-
Shields, B. M. et al. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53, 2504-2508 (2010).
-
(2010)
Diabetologia
, vol.53
, pp. 2504-2508
-
-
Shields, B.M.1
-
15
-
-
84892649702
-
Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia
-
Steele, A. M. et al. Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA 311, 279-286 (2014).
-
(2014)
JAMA
, vol.311
, pp. 279-286
-
-
Steele, A.M.1
-
16
-
-
0031894649
-
Chronic diabetic complications in patients with MODY3 diabetes
-
Isomaa, B. et al. Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia 41, 467-473 (1998).
-
(1998)
Diabetologia
, vol.41
, pp. 467-473
-
-
Isomaa, B.1
-
17
-
-
84868292211
-
Clinical features and treatment of maturity onset diabetes of the young (MODY)
-
Gardner, D. S. & Tai, E. S. Clinical features and treatment of maturity onset diabetes of the young (MODY). Diabetes Metab. Syndr. Obes. 5, 101-108 (2012).
-
(2012)
Diabetes Metab. Syndr. Obes.
, vol.5
, pp. 101-108
-
-
Gardner, D.S.1
Tai, E.S.2
-
18
-
-
0030826078
-
Wolfram (DIDMOAD) syndrome
-
Barrett, T. G. & Bundey, S. E. Wolfram (DIDMOAD) syndrome. J. Med. Genet. 34, 838-841 (1997).
-
(1997)
J. Med. Genet.
, vol.34
, pp. 838-841
-
-
Barrett, T.G.1
Bundey, S.E.2
-
19
-
-
80052360552
-
Genetic syndromes of severe insulin resistance
-
Semple, R. K., Savage, D. B., Cochran, E. K., Gorden, P. & O'Rahilly, S. Genetic syndromes of severe insulin resistance. Endocr. Rev. 32, 498-514 (2011).
-
(2011)
Endocr. Rev.
, vol.32
, pp. 498-514
-
-
Semple, R.K.1
Savage, D.B.2
Cochran, E.K.3
Gorden, P.4
O'Rahilly, S.5
-
20
-
-
77953343713
-
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases
-
Heidet, L. et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin. J. Am. Soc. Nephrol. 5, 1079-1090 (2010).
-
(2010)
Clin. J. Am. Soc. Nephrol.
, vol.5
, pp. 1079-1090
-
-
Heidet, L.1
-
21
-
-
29444440400
-
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
-
Raeder, H. et al. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat. Genet. 38, 54-62 (2006).
-
(2006)
Nat. Genet.
, vol.38
, pp. 54-62
-
-
Raeder, H.1
-
22
-
-
41149084500
-
Clinical implications of a molecular genetic classification of monogenic-cell diabetes
-
Murphy, R., Ellard, S. & Hattersley, A. T. Clinical implications of a molecular genetic classification of monogenic-cell diabetes. Nat. Clin. Pract. Endocrinol. Metab. 4, 200-213 (2008).
-
(2008)
Nat. Clin. Pract. Endocrinol. Metab.
, vol.4
, pp. 200-213
-
-
Murphy, R.1
Ellard, S.2
Hattersley, A.T.3
-
23
-
-
43549084587
-
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes
-
Vaxillaire, M. & Froguel, P. Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. Endocr. Rev. 29, 254-264 (2008).
-
(2008)
Endocr. Rev.
, vol.29
, pp. 254-264
-
-
Vaxillaire, M.1
Froguel, P.2
-
24
-
-
84896734695
-
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model
-
Gao, R. et al. Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model. BMC Genet. 15, 13 (2014).
-
(2014)
BMC Genet.
, vol.15
, pp. 13
-
-
Gao, R.1
-
25
-
-
84881614898
-
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
-
Ellard, S. et al. Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia 56, 1958-1963 (2013).
-
(2013)
Diabetologia
, vol.56
, pp. 1958-1963
-
-
Ellard, S.1
-
26
-
-
84893039682
-
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing
-
Bonnefond, A. et al. Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care 37, 460-467 (2014).
-
(2014)
Diabetes Care
, vol.37
, pp. 460-467
-
-
Bonnefond, A.1
-
27
-
-
84919326785
-
Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach
-
Alkorta-Aranburu, G. et al. Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Mol. Genet. Metab. 113, 315-320 (2014).
-
(2014)
Mol. Genet. Metab.
, vol.113
, pp. 315-320
-
-
Alkorta-Aranburu, G.1
-
28
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12, 745-755 (2011).
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
-
29
-
-
78149439208
-
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome
-
Bonnefond, A. et al. Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PLoS ONE 5, e13630 (2010).
-
(2010)
PLoS ONE
, vol.5
, pp. e13630
-
-
Bonnefond, A.1
-
30
-
-
84861476229
-
Exome sequencing and genetic testing for MODY
-
Johansson, S. et al. Exome sequencing and genetic testing for MODY. PLoS ONE 7, e38050 (2012).
-
(2012)
PLoS ONE
, vol.7
, pp. e38050
-
-
Johansson, S.1
-
31
-
-
84655167736
-
GATA6 haploinsufficiency causes pancreatic agenesis in humans
-
Lango Allen, H. et al. GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat. Genet. 44, 20-22 (2012).
-
(2012)
Nat. Genet.
, vol.44
, pp. 20-22
-
-
Lango Allen, H.1
-
32
-
-
84862207587
-
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene
-
Bonnefond, A. et al. Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. PLoS ONE 7, e37423 (2012).
-
(2012)
PLoS ONE
, vol.7
, pp. e37423
-
-
Bonnefond, A.1
-
33
-
-
84937522764
-
Lossoffunction mutations in APPL1 in familial diabetes mellitus
-
Prudente, S. et al. Lossoffunction mutations in APPL1 in familial diabetes mellitus. Am. J. Hum. Genet. 97, 177-185 (2015).
-
(2015)
Am. J. Hum. Genet.
, vol.97
, pp. 177-185
-
-
Prudente, S.1
-
34
-
-
84907662133
-
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes
-
Kerns, S. L. et al. A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. J. Clin. Endocrinol. Metab. 99, E2117-E2122 (2014).
-
(2014)
J. Clin. Endocrinol. Metab.
, vol.99
, pp. E2117-E2122
-
-
Kerns, S.L.1
-
35
-
-
84931825022
-
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: Expanding the spectrum of PRPS1related disorders
-
AlMaawali, A. et al. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1related disorders. Eur. J. Hum. Genet. 23, 310-316 (2015).
-
(2015)
Eur. J. Hum. Genet.
, vol.23
, pp. 310-316
-
-
AlMaawali, A.1
-
36
-
-
0029021696
-
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas, P. M. et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268, 426-429 (1995).
-
(1995)
Science
, vol.268
, pp. 426-429
-
-
Thomas, P.M.1
-
37
-
-
2342633204
-
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6. 2 and permanent neonatal diabetes
-
Gloyn, A. L. et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6. 2 and permanent neonatal diabetes. N. Engl. J. Med. 350, 1838-1849 (2004).
-
(2004)
N. Engl. J. Med.
, vol.350
, pp. 1838-1849
-
-
Gloyn, A.L.1
-
38
-
-
0342902204
-
Neonatal diabetes mellitus due to complete glucokinase deficiency
-
Njolstad, P. R. et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N. Engl. J. Med. 344, 1588-1592 (2001).
-
(2001)
N. Engl. J. Med.
, vol.344
, pp. 1588-1592
-
-
Njolstad, P.R.1
-
39
-
-
0032836391
-
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor1?
-
Lindner, T. H. et al. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor1?. Hum. Mol. Genet. 8, 2001-2008 (1999).
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2001-2008
-
-
Lindner, T.H.1
-
40
-
-
49649105254
-
Lack of pancreatic body and tail in HNF1B mutation carriers
-
Haldorsen, I. S. et al. Lack of pancreatic body and tail in HNF1B mutation carriers. Diabet. Med. 25, 782-787 (2008).
-
(2008)
Diabet. Med.
, vol.25
, pp. 782-787
-
-
Haldorsen, I.S.1
-
41
-
-
77956373682
-
Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities
-
Rubio-Cabezas, O. et al. Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. Diabetes 59, 2326-2331 (2010).
-
(2010)
Diabetes
, vol.59
, pp. 2326-2331
-
-
Rubio-Cabezas, O.1
-
42
-
-
29444452892
-
Beyond the beta cell in diabetes
-
Hattersley, A. T. Beyond the beta cell in diabetes. Nat. Genet. 38, 12-13 (2006).
-
(2006)
Nat. Genet.
, vol.38
, pp. 12-13
-
-
Hattersley, A.T.1
-
43
-
-
84878853427
-
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry
-
Irgens, H. U. et al. Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. Diabetologia 56, 1512-1519 (2013).
-
(2013)
Diabetologia
, vol.56
, pp. 1512-1519
-
-
Irgens, H.U.1
-
44
-
-
4644260056
-
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6. 2: Patient characteristics and initial response to sulfonylurea therapy
-
Sagen, J. V. et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6. 2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 53, 2713-2718 (2004)
-
(2004)
Diabetes
, vol.53
, pp. 2713-2718
-
-
Sagen, J.V.1
-
45
-
-
33746686369
-
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6. 2 mutations
-
Pearson, E. R. et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6. 2 mutations. N. Engl. J. Med. 355, 467-477 (2006).
-
(2006)
N. Engl. J. Med.
, vol.355
, pp. 467-477
-
-
Pearson, E.R.1
-
46
-
-
0142186278
-
Genetic cause of hyperglycaemia and response to treatment in diabetes
-
Pearson, E. R. et al. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 362, 1275-1281 (2003).
-
(2003)
Lancet
, vol.362
, pp. 1275-1281
-
-
Pearson, E.R.1
-
47
-
-
84958641227
-
Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation
-
Chakera, A. J. et al. Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation. Diabetes Care 38, 1383-1392 (2015).
-
(2015)
Diabetes Care
, vol.38
, pp. 1383-1392
-
-
Chakera, A.J.1
-
48
-
-
75149178737
-
Familial risks for type 2 diabetes in Sweden
-
Hemminki, K., Li, X., Sundquist, K. & Sundquist, J. Familial risks for type 2 diabetes in Sweden. Diabetes Care 33, 293-297 (2010).
-
(2010)
Diabetes Care
, vol.33
, pp. 293-297
-
-
Hemminki, K.1
Li, X.2
Sundquist, K.3
Sundquist, J.4
-
49
-
-
80054707972
-
Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study
-
Almgren, P. et al. Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study. Diabetologia 54, 2811-2819 (2011).
-
(2011)
Diabetologia
, vol.54
, pp. 2811-2819
-
-
Almgren, P.1
-
50
-
-
40349114743
-
Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium
-
Guan, W., Pluzhnikov, A., Cox, N. J. & Boehnke, M. Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium. Hum. Hered. 66, 35-49 (2008).
-
(2008)
Hum. Hered.
, vol.66
, pp. 35-49
-
-
Guan, W.1
Pluzhnikov, A.2
Cox, N.J.3
Boehnke, M.4
-
51
-
-
84924545632
-
Rare and common genetic events in type 2 diabetes: What should biologists know
-
Bonnefond, A. & Froguel, P. Rare and common genetic events in type 2 diabetes: what should biologists know? Cell Metab. 21, 357-368 (2015).
-
(2015)
Cell Metab
, vol.21
, pp. 357-368
-
-
Bonnefond, A.1
Froguel, P.2
-
52
-
-
84943785470
-
Recent advances in understanding the genetic architecture of type 2 diabetes
-
Mohlke, K. L. & Boehnke, M. Recent advances in understanding the genetic architecture of type 2 diabetes. Hum. Mol. Genet. 24, R85-R92 (2015).
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. R85-R92
-
-
Mohlke, K.L.1
Boehnke, M.2
-
53
-
-
84868337361
-
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
-
Morris, A. P. et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat. Genet. 44, 981-990 (2012)
-
(2012)
Nat. Genet.
, vol.44
, pp. 981-990
-
-
Morris, A.P.1
-
54
-
-
84895868553
-
Genome-wide trans-ancestry metaanalysis provides insight into the genetic architecture of type 2 diabetes susceptibility
-
DIAbetes Genetics Replication Meta-analysis Consortium et al
-
DIAbetes Genetics Replication Meta-analysis Consortium et al. Genome-wide trans-ancestry metaanalysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat. Genet. 46, 234-244 (2014).
-
(2014)
Nat. Genet.
, vol.46
, pp. 234-244
-
-
-
55
-
-
84888389414
-
Evaluating empirical bounds on complex disease genetic architecture
-
GoT2D Consortium & Altshuler, D
-
Agarwala, V., Flannick, J., Sunyaev, S., GoT2D Consortium & Altshuler, D. Evaluating empirical bounds on complex disease genetic architecture. Nat. Genet. 45, 1418-1427 (2013).
-
(2013)
Nat. Genet.
, vol.45
, pp. 1418-1427
-
-
Agarwala, V.1
Flannick, J.2
Sunyaev, S.3
-
56
-
-
84860333083
-
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
-
Stahl, E. A. et al. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat. Genet. 44, 483-489 (2012).
-
(2012)
Nat. Genet.
, vol.44
, pp. 483-489
-
-
Stahl, E.A.1
-
57
-
-
84865822182
-
Systematic localization of common disease-associated variation in regulatory DNA
-
Maurano, M. T. et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 337, 1190-1195 (2012).
-
(2012)
Science
, vol.337
, pp. 1190-1195
-
-
Maurano, M.T.1
-
58
-
-
84895806401
-
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants
-
Pasquali, L. et al. Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants. Nat. Genet. 46, 136-143 (2014).
-
(2014)
Nat. Genet.
, vol.46
, pp. 136-143
-
-
Pasquali, L.1
-
59
-
-
78049446282
-
Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci
-
Stitzel, M. L. et al. Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. Cell Metab. 12, 443-455 (2010).
-
(2010)
Cell Metab.
, vol.12
, pp. 443-455
-
-
Stitzel, M.L.1
-
60
-
-
84870502629
-
Bayesian refinement of association signals for 14 loci in 3 common diseases
-
The Wellcome Trust Case Control Consortium et al
-
The Wellcome Trust Case Control Consortium et al. Bayesian refinement of association signals for 14 loci in 3 common diseases. Nat. Genet. 44, 1294-1301 (2012).
-
(2012)
Nat. Genet.
, vol.44
, pp. 1294-1301
-
-
-
61
-
-
76249098866
-
Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3
-
Ragvin, A. et al. Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. Proc. Natl Acad. Sci. USA 107, 775-780 (2010).
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 775-780
-
-
Ragvin, A.1
-
62
-
-
84940830979
-
FTO obesity variant circuitry and adipocyte browning in humans
-
Claussnitzer, M. et al. FTO obesity variant circuitry and adipocyte browning in humans. N. Engl. J. Med. 373, 895-907 (2015).
-
(2015)
N. Engl. J. Med.
, vol.373
, pp. 895-907
-
-
Claussnitzer, M.1
-
63
-
-
84897855294
-
Obesity-associated variants within FTO form long-range functional connections with IRX3
-
Smemo, S. et al. Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature 507, 371-375 (2014).
-
(2014)
Nature
, vol.507
, pp. 371-375
-
-
Smemo, S.1
-
64
-
-
79957607662
-
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
-
Small, K. S. et al. Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes. Nat. Genet. 43, 561-564 (2011).
-
(2011)
Nat. Genet.
, vol.43
, pp. 561-564
-
-
Small, K.S.1
-
65
-
-
84874427659
-
Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets
-
Travers, M. E. et al. Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets. Diabetes 62, 987-992 (2013).
-
(2013)
Diabetes
, vol.62
, pp. 987-992
-
-
Travers, M.E.1
-
66
-
-
84901378366
-
A central role for GRB10 in regulation of islet function in man
-
Prokopenko, I. et al. A central role for GRB10 in regulation of islet function in man. PLoS Genet. 10, e1004235 (2014).
-
(2014)
PLoS Genet
, vol.10
, pp. e1004235
-
-
Prokopenko, I.1
-
67
-
-
84892689100
-
Leveraging cross-species transcription factor binding site patterns: From diabetes risk loci to disease mechanisms
-
Claussnitzer, M. et al. Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms. Cell 156, 343-358 (2014).
-
(2014)
Cell
, vol.156
, pp. 343-358
-
-
Claussnitzer, M.1
-
68
-
-
84948984088
-
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
-
Gaulton, K. J. et al. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nat. Genet. 47, 1415-1425 (2015).
-
(2015)
Nat. Genet.
, vol.47
, pp. 1415-1425
-
-
Gaulton, K.J.1
-
69
-
-
84953234597
-
Transcript expression data from human islets links regulatory signals from genome-wide association studies for type 2 diabetes and glycemic traits to their downstream effectors
-
van de Bunt, M. et al. Transcript expression data from human islets links regulatory signals from genome-wide association studies for type 2 diabetes and glycemic traits to their downstream effectors. PLoS Genet. 11, e1005694 (2015).
-
(2015)
PLoS Genet.
, vol.11
, pp. e1005694
-
-
Van De Bunt, M.1
-
70
-
-
0033027001
-
The hepatic nuclear factor1 G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree
-
Hegele, R. A., Cao, H., Harris, S. B., Hanley, A. J. & Zinman, B. The hepatic nuclear factor1 G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree. J. Clin. Endocrinol. Metab. 84, 1077-1082 (1999).
-
(1999)
J. Clin. Endocrinol. Metab.
, vol.84
, pp. 1077-1082
-
-
Hegele, R.A.1
Cao, H.2
Harris, S.B.3
Hanley, A.J.4
Zinman, B.5
-
71
-
-
0033624575
-
The common PPAR Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
-
Altshuler, D. et al. The common PPAR Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat. Genet. 26, 76-80 (2000).
-
(2000)
Nat. Genet.
, vol.26
, pp. 76-80
-
-
Altshuler, D.1
-
72
-
-
0037317981
-
Large-scale association studies of variants in genes encoding the pancreatic cell KATP channel subunits Kir6, 2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
-
Gloyn, A. L. et al. Large-scale association studies of variants in genes encoding the pancreatic cell KATP channel subunits Kir6. 2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 52, 568-572 (2003).
-
(2003)
Diabetes
, vol.52
, pp. 568-572
-
-
Gloyn, A.L.1
-
73
-
-
77954143522
-
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
-
Voight, B. F. et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat. Genet. 42, 579-589 (2010).
-
(2010)
Nat. Genet.
, vol.42
, pp. 579-589
-
-
Voight, B.F.1
-
74
-
-
84974572977
-
Genetic architecture of type 2 diabetes from sequence based analyses
-
in the press
-
Fuchsberger, C. et al. Genetic architecture of type 2 diabetes from sequence based analyses. Nature (in the press)
-
Nature
-
-
Fuchsberger, C.1
-
75
-
-
84873085571
-
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion
-
Huyghe, J. R. et al. Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat. Genet. 45, 197-201 (2013).
-
(2013)
Nat. Genet.
, vol.45
, pp. 197-201
-
-
Huyghe, J.R.1
-
76
-
-
84923206532
-
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
-
Wessel, J. et al. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat. Commun. 6, 5897 (2015).
-
(2015)
Nat. Commun.
, vol.6
, pp. 5897
-
-
Wessel, J.1
-
77
-
-
84929200986
-
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus
-
Mahajan, A. et al. Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. PLoS Genet. 11, e1004876 (2015).
-
(2015)
PLoS Genet.
, vol.11
, pp. e1004876
-
-
Mahajan, A.1
-
78
-
-
84974572978
-
A low frequency AKT2 coding variant enriched in the Finnish population is associated with fasting insulin levels
-
Manning, A. K. et al. A low frequency AKT2 coding variant enriched in the Finnish population is associated with fasting insulin levels. Presented at the 60th Annual Meeting of The American Society of Human Genetics (2014).
-
(2014)
The 60th Annual Meeting of the American Society of Human Genetics
-
-
Manning, A.K.1
-
79
-
-
84865693681
-
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits
-
Voight, B. F. et al. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet. 8, e1002793 (2012).
-
(2012)
PLoS Genet.
, vol.8
, pp. e1002793
-
-
Voight, B.F.1
-
80
-
-
84906226932
-
A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
-
Moltke, I. et al. A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes. Nature 512, 190-193 (2014).
-
(2014)
Nature
, vol.512
, pp. 190-193
-
-
Moltke, I.1
-
81
-
-
84895858002
-
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
-
Steinthorsdottir, V. et al. Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes. Nat. Genet. 46, 294-298 (2014).
-
(2014)
Nat. Genet.
, vol.46
, pp. 294-298
-
-
Steinthorsdottir, V.1
-
82
-
-
84890260477
-
Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes
-
Lohmueller, K. E. et al. Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes. Am. J. Hum. Genet. 93, 1072-1086 (2013).
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 1072-1086
-
-
Lohmueller, K.E.1
-
83
-
-
84902185032
-
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population
-
The SIGMA Type 2 Diabetes Consortium et al
-
The SIGMA Type 2 Diabetes Consortium et al. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA 311, 2305-2314 (2014).
-
(2014)
JAMA
, vol.311
, pp. 2305-2314
-
-
-
84
-
-
84857654651
-
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes
-
Bonnefond, A. et al. Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes. Nat. Genet. 44, 297-301 (2012)
-
(2012)
Nat. Genet.
, vol.44
, pp. 297-301
-
-
Bonnefond, A.1
-
85
-
-
84907013152
-
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
-
Majithia, A. R. et al. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Proc. Natl Acad. Sci. USA 111, 13127-13132 (2014).
-
(2014)
Proc. Natl Acad. Sci. USA
, vol.111
, pp. 13127-13132
-
-
Majithia, A.R.1
-
86
-
-
85021338307
-
Functional investigations of the monogenic diabetes gene HNF1A identify rare variants as risk factors for type 2 diabetes in the general population
-
Laeya, A. et al. Functional investigations of the monogenic diabetes gene HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. Diabetes 64 (Suppl 1) A460 (2015).
-
(2015)
Diabetes
, vol.64
, pp. A460
-
-
Laeya, A.1
-
87
-
-
84897407583
-
Lossoffunction mutations in SLC30A8 protect against type 2 diabetes
-
Flannick, J. et al. Lossoffunction mutations in SLC30A8 protect against type 2 diabetes. Nat. Genet. 46, 357-363 (2014).
-
(2014)
Nat. Genet.
, vol.46
, pp. 357-363
-
-
Flannick, J.1
-
88
-
-
84887110294
-
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
-
Flannick, J. et al. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat. Genet. 45, 1380-1385 (2013).
-
(2013)
Nat. Genet.
, vol.45
, pp. 1380-1385
-
-
Flannick, J.1
-
89
-
-
79959557454
-
Power in the phenotypic extremes: A simulation study of power in discovery and replication of rare variants
-
Guey, L. T. et al. Power in the phenotypic extremes: A simulation study of power in discovery and replication of rare variants. Genet. Epidemiol. 35, 236-246 (2011).
-
(2011)
Genet. Epidemiol.
, vol.35
, pp. 236-246
-
-
Guey, L.T.1
-
90
-
-
0038744296
-
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: A combined analysis of 22 studies
-
Antoniou, A. et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: A combined analysis of 22 studies. Am. J. Hum. Genet. 72, 1117-1130 (2003).
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1117-1130
-
-
Antoniou, A.1
-
91
-
-
0242660361
-
Confounding, ascertainment bias, and the blind quest for a genetic 'fountain of youth'
-
Terwilliger, J. D. & Weiss, K. M. Confounding, ascertainment bias, and the blind quest for a genetic 'fountain of youth'. Ann. Med. 35, 532-544 (2003).
-
(2003)
Ann. Med.
, vol.35
, pp. 532-544
-
-
Terwilliger, J.D.1
Weiss, K.M.2
-
92
-
-
0035209177
-
Large upward bias in estimation of locus-specific effects from genomewide scans
-
Goring, H. H., Terwilliger, J. D. & Blangero, J. Large upward bias in estimation of locus-specific effects from genomewide scans. Am. J. Hum. Genet. 69, 1357-1369 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1357-1369
-
-
Goring, H.H.1
Terwilliger, J.D.2
Blangero, J.3
-
94
-
-
84863116742
-
A systematic survey of lossoffunction variants in human protein-coding genes
-
MacArthur, D. G. et al. A systematic survey of lossoffunction variants in human protein-coding genes. Science 335, 823-828 (2012).
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
-
95
-
-
84859561085
-
Taxonomizing, sizing, and overcoming the incidentalome
-
Kohane, I. S., Hsing, M. & Kong, S. W. Taxonomizing, sizing, and overcoming the incidentalome. Genet. Med. 14, 399-404 (2012).
-
(2012)
Genet. Med.
, vol.14
, pp. 399-404
-
-
Kohane, I.S.1
Hsing, M.2
Kong, S.W.3
-
96
-
-
84929133372
-
Identification of a large set of rare complete human knockouts
-
Sulem, P. et al. Identification of a large set of rare complete human knockouts. Nat. Genet. 47, 448-452 (2015).
-
(2015)
Nat. Genet.
, vol.47
, pp. 448-452
-
-
Sulem, P.1
-
97
-
-
55549101314
-
Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results
-
Plon, S. E. et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum. Mutat. 29, 1282-1291 (2008).
-
(2008)
Hum. Mutat.
, vol.29
, pp. 1282-1291
-
-
Plon, S.E.1
-
98
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405-424 (2015).
-
(2015)
Genet. Med.
, vol.17
, pp. 405-424
-
-
Richards, S.1
-
99
-
-
0035807902
-
A transcription factor regulatory circuit in differentiated pancreatic cells
-
Boj, S. F., Parrizas, M., Maestro, M. A & Ferrer, J. A transcription factor regulatory circuit in differentiated pancreatic cells. Proc. Natl Acad. Sci. USA 98, 14481-14486 (2001).
-
(2001)
Proc. Natl Acad. Sci. USA
, vol.98
, pp. 14481-14486
-
-
Boj, S.F.1
Parrizas, M.2
Maestro, M.A.3
Ferrer, J.4
-
100
-
-
10744227070
-
Control of pancreas and liver gene expression by HNF transcription factors
-
Odom, D. T. et al. Control of pancreas and liver gene expression by HNF transcription factors. Science 303, 1378-1381 (2004).
-
(2004)
Science
, vol.303
, pp. 1378-1381
-
-
Odom, D.T.1
-
101
-
-
0025253275
-
HNF1 shares three sequence motifs with the POU domain proteins and is identical to LFB1 and APF
-
Baumhueter, S. et al. HNF1 shares three sequence motifs with the POU domain proteins and is identical to LFB1 and APF. Genes Dev. 4, 372-379 (1990).
-
(1990)
Genes Dev.
, vol.4
, pp. 372-379
-
-
Baumhueter, S.1
-
102
-
-
77955505564
-
Biological, clinical and population relevance of 95 loci for blood lipids
-
Teslovich, T. M. et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466, 707-713 (2010).
-
(2010)
Nature
, vol.466
, pp. 707-713
-
-
Teslovich, T.M.1
-
103
-
-
61349177857
-
New susceptibility locus for coronary artery disease on chromosome 3q22. 3
-
Erdmann, J. et al. New susceptibility locus for coronary artery disease on chromosome 3q22. 3. Nat. Genet. 41, 280-282 (2009).
-
(2009)
Nat. Genet.
, vol.41
, pp. 280-282
-
-
Erdmann, J.1
-
104
-
-
84888321284
-
Genetics of diabetes-are we missing the genes or the disease?
-
Groop, L. & Pociot, F. Genetics of diabetes-are we missing the genes or the disease? Mol. Cell. Endocrinol. 382, 726-739 (2014).
-
(2014)
Mol. Cell. Endocrinol.
, vol.382
, pp. 726-739
-
-
Groop, L.1
Pociot, F.2
-
105
-
-
84863229330
-
Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay
-
Melnikov, A. et al. Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay. Nat. Biotechnol. 30, 271-277 (2012).
-
(2012)
Nat. Biotechnol.
, vol.30
, pp. 271-277
-
-
Melnikov, A.1
-
106
-
-
84906217475
-
Comprehensive mutational scanning of a kinase in vivo reveals substrate-dependent fitness landscapes
-
Melnikov, A., Rogov, P., Wang, L., Gnirke, A. & Mikkelsen, T. S. Comprehensive mutational scanning of a kinase in vivo reveals substrate-dependent fitness landscapes. Nucleic Acids Res. 42, e112 (2014).
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. e112
-
-
Melnikov, A.1
Rogov, P.2
Wang, L.3
Gnirke, A.4
Mikkelsen, T.S.5
-
107
-
-
84942856932
-
Parlez-vous VUS?
-
Cooper, G. M. Parlez-vous VUS? Genome Res. 25, 1423-1426 (2015).
-
(2015)
Genome Res
, vol.25
, pp. 1423-1426
-
-
Cooper, G.M.1
-
108
-
-
84899476119
-
Guidelines for investigating causality of sequence variants in human disease
-
MacArthur, D. G. et al. Guidelines for investigating causality of sequence variants in human disease. Nature 508, 469-476 (2014).
-
(2014)
Nature
, vol.508
, pp. 469-476
-
-
MacArthur, D.G.1
-
109
-
-
2542528670
-
A family with severe insulin resistance and diabetes due to a mutation in AKT2
-
George, S. et al. A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science 304, 1325-1328 (2004).
-
(2004)
Science
, vol.304
, pp. 1325-1328
-
-
George, S.1
-
110
-
-
33847410199
-
Analysis of genetic variation in Akt2/ PKB-in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes
-
Tan, K. et al. Analysis of genetic variation in Akt2/ PKB-in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes. Diabetes 56, 714-719 (2007).
-
(2007)
Diabetes
, vol.56
, pp. 714-719
-
-
Tan, K.1
-
111
-
-
84902096048
-
Development and applications of CRISPR-Cas9 for genome engineering
-
Hsu, P. D., Lander, E. S. & Zhang, F. Development and applications of CRISPR-Cas9 for genome engineering. Cell 157, 1262-1278 (2014).
-
(2014)
Cell
, vol.157
, pp. 1262-1278
-
-
Hsu, P.D.1
Lander, E.S.2
Zhang, F.3
-
112
-
-
0033847575
-
Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor1 gene mutations: Evidence for pharmacogenetics in diabetes
-
Pearson, E. R., Liddell, W. G., Shepherd, M., Corrall, R. J. & Hattersley, A. T. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor1 gene mutations: evidence for pharmacogenetics in diabetes. Diabet. Med. 17, 543-545 (2000).
-
(2000)
Diabet. Med.
, vol.17
, pp. 543-545
-
-
Pearson, E.R.1
Liddell, W.G.2
Shepherd, M.3
Corrall, R.J.4
Hattersley, A.T.5
-
113
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio, T. A. et al. Finding the missing heritability of complex diseases. Nature 461, 747-753 (2009)
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
-
114
-
-
77951702343
-
Genetic heterogeneity in human disease
-
McClellan, J. & King, M. C. Genetic heterogeneity in human disease. Cell 141, 210-217 (2010).
-
(2010)
Cell
, vol.141
, pp. 210-217
-
-
McClellan, J.1
King, M.C.2
-
115
-
-
77952574849
-
Uncovering the roles of rare variants in common disease through whole-genome sequencing
-
Cirulli, E. T. & Goldstein, D. B. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat. Rev. Genet. 11, 415-425 (2010).
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 415-425
-
-
Cirulli, E.T.1
Goldstein, D.B.2
-
116
-
-
68449086236
-
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
-
The International Schizophrenia Consortium
-
The International Schizophrenia Consortium. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460, 748-752 (2009).
-
(2009)
Nature
, vol.460
, pp. 748-752
-
-
-
117
-
-
77954140531
-
Common SNPs explain a large proportion of the heritability for human height
-
Yang, J. et al. Common SNPs explain a large proportion of the heritability for human height. Nat. Genet. 42, 565-569 (2010).
-
(2010)
Nat. Genet.
, vol.42
, pp. 565-569
-
-
Yang, J.1
-
118
-
-
33645103550
-
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
-
Cohen, J. C., Boerwinkle, E., Mosley, T. H. Jr & Hobbs, H. H. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N. Engl. J. Med. 354, 1264-1272 (2006).
-
(2006)
N. Engl. J. Med.
, vol.354
, pp. 1264-1272
-
-
Cohen, J.C.1
Boerwinkle, E.2
Mosley, T.H.3
Hobbs, H.H.4
-
119
-
-
82755175640
-
Genetic risk prediction in complex disease
-
Jostins, L. & Barrett, J. C. Genetic risk prediction in complex disease. Hum. Mol. Genet. 20, R182-R188 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. R182-R188
-
-
Jostins, L.1
Barrett, J.C.2
-
120
-
-
77955499945
-
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
-
Musunuru, K. et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 466, 714-719 (2010).
-
(2010)
Nature
, vol.466
, pp. 714-719
-
-
Musunuru, K.1
-
121
-
-
0034660559
-
Searching for genetic determinants in the new millennium
-
Risch, N. J. Searching for genetic determinants in the new millennium. Nature 405, 847-856 (2000).
-
(2000)
Nature
, vol.405
, pp. 847-856
-
-
Risch, N.J.1
-
122
-
-
55449120805
-
Genetic mapping in human disease
-
Altshuler, D., Daly, M. J. & Lander, E. S. Genetic mapping in human disease. Science 322, 881-888 (2008). Reference 123 is a thorough review of the history of genetic mapping.
-
(2008)
Science
, vol.322
, pp. 881-888
-
-
Altshuler, D.1
Daly, M.J.2
Lander, E.S.3
-
123
-
-
0035451780
-
On the allelic spectrum of human disease
-
Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Trends Genet. 17, 502-510 (2001). Reference 124 is responsible for much of the motivation behind GWAS.
-
(2001)
Trends Genet.
, vol.17
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
124
-
-
84862683078
-
The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions
-
Bamshad, M. J. et al. The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am. J. Med. Genet. A 158A, 1523-1525 (2012).
-
(2012)
Am. J. Med. Genet. A
, vol.158 A
, pp. 1523-1525
-
-
Bamshad, M.J.1
-
125
-
-
84902173195
-
FORGE Canada Consortium: Outcomes of a 2year national rare-disease gene-discovery project
-
Beaulieu, C. L. et al. FORGE Canada Consortium: outcomes of a 2year national rare-disease gene-discovery project. Am. J. Hum. Genet. 94, 809-817 (2014).
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 809-817
-
-
Beaulieu, C.L.1
-
126
-
-
84926522440
-
Genetic diagnosis of developmental disorders in the DDD study: A scalable analysis of genome-wide research data
-
Wright, C. F. et al. Genetic diagnosis of developmental disorders in the DDD study: A scalable analysis of genome-wide research data. Lancet 385, 1305-1314 (2015).
-
(2015)
Lancet
, vol.385
, pp. 1305-1314
-
-
Wright, C.F.1
-
127
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Yang, Y. et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 369, 1502-1511 (2013).
-
(2013)
N. Engl. J. Med.
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
|