-
1
-
-
84856153283
-
Toward precision medicine: building a knowledge network for biomedical research and a new taxonomy of disease the National Academies Collection
-
Bethesda, MD: National Institutes of Health
-
Toward precision medicine: building a knowledge network for biomedical research and a new taxonomy of disease the National Academies Collection. Bethesda, MD: National Institutes of Health; 2011.
-
(2011)
-
-
-
2
-
-
84884826911
-
The next-generation sequencing revolution and its impact on genomics
-
Koboldt D.C., Steinberg K.M., Larson D.E., Wilson R.K., Mardis E.R. The next-generation sequencing revolution and its impact on genomics. Cell 2013, 155:27-38.
-
(2013)
Cell
, vol.155
, pp. 27-38
-
-
Koboldt, D.C.1
Steinberg, K.M.2
Larson, D.E.3
Wilson, R.K.4
Mardis, E.R.5
-
3
-
-
84923762812
-
A new initiative on precision medicine
-
Collins F.S., Varmus H. A new initiative on precision medicine. N Engl J Med 2015, 372:793-795.
-
(2015)
N Engl J Med
, vol.372
, pp. 793-795
-
-
Collins, F.S.1
Varmus, H.2
-
4
-
-
84880573499
-
New developments in steroid-resistant nephrotic syndrome
-
Saleem M.A. New developments in steroid-resistant nephrotic syndrome. Pediatr Nephrol 2013, 28:699-709.
-
(2013)
Pediatr Nephrol
, vol.28
, pp. 699-709
-
-
Saleem, M.A.1
-
5
-
-
77955646179
-
Association of trypanolytic ApoL1 variants with kidney disease in African Americans
-
Genovese G., Friedman D.J., Ross M.D., Lecordier L., Uzureau P., et al. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science 2010, 329:841-845.
-
(2010)
Science
, vol.329
, pp. 841-845
-
-
Genovese, G.1
Friedman, D.J.2
Ross, M.D.3
Lecordier, L.4
Uzureau, P.5
-
6
-
-
77950515351
-
Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology
-
Machuca E., Benoit G., Antignac C. Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology. Hum Mol Genet 2009, 18:R185-R194.
-
(2009)
Hum Mol Genet
, vol.18
, pp. R185-R194
-
-
Machuca, E.1
Benoit, G.2
Antignac, C.3
-
7
-
-
10744226566
-
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome
-
Ruf R.G., Lichtenberger SM, Karle JP, Haas JP, Anacleto FE, Schultheiss M, et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 2004, 15:722-732.
-
(2004)
J Am Soc Nephrol
, vol.15
, pp. 722-732
-
-
Ruf, R.G.1
Lichtenberger, S.M.2
Karle, J.P.3
Haas, J.P.4
Anacleto, F.E.5
Schultheiss, M.6
-
8
-
-
78149355246
-
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome
-
Buscher A.K., Kranz B., Büscher R., Hildebrandt F., Dworniczak B., Pennekamp P., et al. Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2010, 5:2075-2084.
-
(2010)
Clin J Am Soc Nephrol
, vol.5
, pp. 2075-2084
-
-
Buscher, A.K.1
Kranz, B.2
Büscher, R.3
Hildebrandt, F.4
Dworniczak, B.5
Pennekamp, P.6
-
9
-
-
79952318060
-
Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation
-
Jungraithmayr T.C., Hofer K., Cochat P., Chernin G., Cortina G., Fargue S., et al. Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation. J Am Soc Nephrol 2011, 22:579-585.
-
(2011)
J Am Soc Nephrol
, vol.22
, pp. 579-585
-
-
Jungraithmayr, T.C.1
Hofer, K.2
Cochat, P.3
Chernin, G.4
Cortina, G.5
Fargue, S.6
-
10
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio T.A., Collins F.S., Cox N.J., Goldstein D.B., Hindorff L.A., Hunter D.J., et al. Finding the missing heritability of complex diseases. Nature 2009, 461:747-753.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
-
11
-
-
84876040962
-
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome
-
McCarthy H.J., Bierzynska A., Wherlock M., Ognjanovic M., Kerecuk L., Hegde S., et al. Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2013, 8:637-648.
-
(2013)
Clin J Am Soc Nephrol
, vol.8
, pp. 637-648
-
-
McCarthy, H.J.1
Bierzynska, A.2
Wherlock, M.3
Ognjanovic, M.4
Kerecuk, L.5
Hegde, S.6
-
12
-
-
84930436697
-
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
-
Sadowski C.E., Lovric S., Ashraf S., Pabst W.L., Gee H.Y., Kohl S., et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2015, 26:1279-1289.
-
(2015)
J Am Soc Nephrol
, vol.26
, pp. 1279-1289
-
-
Sadowski, C.E.1
Lovric, S.2
Ashraf, S.3
Pabst, W.L.4
Gee, H.Y.5
Kohl, S.6
-
13
-
-
8444221929
-
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
-
Zenker M., Aigner T., Wendler O., Tralau T., Müntefering H., Fenski R., et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 2004, 13:2625-2632.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2625-2632
-
-
Zenker, M.1
Aigner, T.2
Wendler, O.3
Tralau, T.4
Müntefering, H.5
Fenski, R.6
-
14
-
-
0026094584
-
Germline mutations in the Wilms[U+05F3] tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome
-
Pelletier J., Bruening W., Kashtan C.E., Mauer S.M., Manivel J.C., Striegel J.E., et al. Germline mutations in the Wilms[U+05F3] tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 1991, 67:437-447.
-
(1991)
Cell
, vol.67
, pp. 437-447
-
-
Pelletier, J.1
Bruening, W.2
Kashtan, C.E.3
Mauer, S.M.4
Manivel, J.C.5
Striegel, J.E.6
-
15
-
-
16944365351
-
Donor splice-site mutations in WT1 are responsible for Frasier syndrome
-
Barbaux S., Niaudet P., Gubler M.C., Grünfeld J.P., Jaubert F., Kuttenn F., et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 1997, 17:467-470.
-
(1997)
Nat Genet
, vol.17
, pp. 467-470
-
-
Barbaux, S.1
Niaudet, P.2
Gubler, M.C.3
Grünfeld, J.P.4
Jaubert, F.5
Kuttenn, F.6
-
16
-
-
0031800728
-
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
-
Dreyer S.D., Zhou G., Baldini A., Winterpacht A., Zabel B., Cole W., et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1998, 19:47-50.
-
(1998)
Nat Genet
, vol.19
, pp. 47-50
-
-
Dreyer, S.D.1
Zhou, G.2
Baldini, A.3
Winterpacht, A.4
Zabel, B.5
Cole, W.6
-
17
-
-
33847397014
-
Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome
-
Gbadegesin R., Hinkes B., Vlangos C., Mucha B., Liu J., Hopcian J., et al. Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. Pediatr Nephrol 2007, 22:509-513.
-
(2007)
Pediatr Nephrol
, vol.22
, pp. 509-513
-
-
Gbadegesin, R.1
Hinkes, B.2
Vlangos, C.3
Mucha, B.4
Liu, J.5
Hopcian, J.6
-
18
-
-
84924131555
-
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression
-
Giglio S., Provenzano A., Mazzinghi B., Becherucci F., Giunti L., Sansavini G., et al. Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression. J Am Soc Nephrol 2015, 26:230-236.
-
(2015)
J Am Soc Nephrol
, vol.26
, pp. 230-236
-
-
Giglio, S.1
Provenzano, A.2
Mazzinghi, B.3
Becherucci, F.4
Giunti, L.5
Sansavini, G.6
-
19
-
-
84874661164
-
Genetic testing in nephrotic syndrome--challenges and opportunities
-
Gbadegesin R.A., Winn M.P., Smoyer W.E. Genetic testing in nephrotic syndrome--challenges and opportunities. Nat Rev Nephrol 2013, 9:179-184.
-
(2013)
Nat Rev Nephrol
, vol.9
, pp. 179-184
-
-
Gbadegesin, R.A.1
Winn, M.P.2
Smoyer, W.E.3
-
20
-
-
77955012444
-
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations
-
Benoit G., Machuca E., Antignac C. Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol 2010, 25:1621-1632.
-
(2010)
Pediatr Nephrol
, vol.25
, pp. 1621-1632
-
-
Benoit, G.1
Machuca, E.2
Antignac, C.3
-
21
-
-
84880920122
-
Bringing genome-wide association findings into clinical use
-
Manolio T.A. Bringing genome-wide association findings into clinical use. Nat Rev Genet 2013, 14:549-558.
-
(2013)
Nat Rev Genet
, vol.14
, pp. 549-558
-
-
Manolio, T.A.1
-
22
-
-
84873085571
-
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion
-
Huyghe J.R., Jackson A.U., Fogarty M.P., Buchkovich M.L., Stančáková A., Stringham H.M., et al. Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat Genet 2013, 45:197-201.
-
(2013)
Nat Genet
, vol.45
, pp. 197-201
-
-
Huyghe, J.R.1
Jackson, A.U.2
Fogarty, M.P.3
Buchkovich, M.L.4
Stančáková, A.5
Stringham, H.M.6
-
23
-
-
79957951017
-
Low-coverage sequencing: implications for design of complex trait association studies
-
Li Y., Sidore C., Kang H.M., Boehnke M., Abecasis G.R. Low-coverage sequencing: implications for design of complex trait association studies. Genome Res 2011, 21:940-951.
-
(2011)
Genome Res
, vol.21
, pp. 940-951
-
-
Li, Y.1
Sidore, C.2
Kang, H.M.3
Boehnke, M.4
Abecasis, G.R.5
-
24
-
-
84904006087
-
Rare-variant association analysis: study designs and statistical tests
-
Lee S., Abecasis G.R., Boehnke M., Lin X. Rare-variant association analysis: study designs and statistical tests. Am J Hum Genet 2014, 95:5-23.
-
(2014)
Am J Hum Genet
, vol.95
, pp. 5-23
-
-
Lee, S.1
Abecasis, G.R.2
Boehnke, M.3
Lin, X.4
-
25
-
-
84934784384
-
HLA-DQA1 and PLCG2 are candidate risk loci for childhood-onset steroid-sensitive nephrotic syndrome
-
In press
-
Gbadegesin R.A., Adeyemo A., Webb N.J., Greenbaum L.A., Abeyagunawardena A., Thalgahagoda S., et al. HLA-DQA1 and PLCG2 are candidate risk loci for childhood-onset steroid-sensitive nephrotic syndrome. J Am Soc Nephrol 2014, In press.
-
(2014)
J Am Soc Nephrol
-
-
Gbadegesin, R.A.1
Adeyemo, A.2
Webb, N.J.3
Greenbaum, L.A.4
Abeyagunawardena, A.5
Thalgahagoda, S.6
-
26
-
-
79951827439
-
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy
-
Stanescu H.C., Arcos-Burgos M., Medlar A., Bockenhauer D., Kottgen A., Dragomirescu L., et al. Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med 2011, 364:616-626.
-
(2011)
N Engl J Med
, vol.364
, pp. 616-626
-
-
Stanescu, H.C.1
Arcos-Burgos, M.2
Medlar, A.3
Bockenhauer, D.4
Kottgen, A.5
Dragomirescu, L.6
-
27
-
-
79953224410
-
Genome-wide association study identifies susceptibility loci for IgA nephropathy
-
Gharavi A.G., Kiryluk K., Choi M., Li Y., Hou P., Xie J., et al. Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet 2011, 43:321-327.
-
(2011)
Nat Genet
, vol.43
, pp. 321-327
-
-
Gharavi, A.G.1
Kiryluk, K.2
Choi, M.3
Li, Y.4
Hou, P.5
Xie, J.6
-
28
-
-
79955465968
-
Common variation in GPC5 is associated with acquired nephrotic syndrome
-
Okamoto K., Tokunaga K., Doi K., Fujita T., Suzuki H., Katoh T., et al. Common variation in GPC5 is associated with acquired nephrotic syndrome. Nat Genet 2011, 43:459-463.
-
(2011)
Nat Genet
, vol.43
, pp. 459-463
-
-
Okamoto, K.1
Tokunaga, K.2
Doi, K.3
Fujita, T.4
Suzuki, H.5
Katoh, T.6
-
29
-
-
84908667647
-
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens
-
Kiryluk K., Li Y., Scolari F., Sanna-Cherchi S., Choi M., Verbitsky M., et al. Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens. Nat Genet 2014, 46:1187-1196.
-
(2014)
Nat Genet
, vol.46
, pp. 1187-1196
-
-
Kiryluk, K.1
Li, Y.2
Scolari, F.3
Sanna-Cherchi, S.4
Choi, M.5
Verbitsky, M.6
-
30
-
-
84923171580
-
Genetic studies of body mass index yield new insights for obesity biology
-
Locke A.E., Kahali B., Berndt S.I., Justice A.E., Pers T.H., Day F.R., et al. Genetic studies of body mass index yield new insights for obesity biology. Nature 2015, 518:197-206.
-
(2015)
Nature
, vol.518
, pp. 197-206
-
-
Locke, A.E.1
Kahali, B.2
Berndt, S.I.3
Justice, A.E.4
Pers, T.H.5
Day, F.R.6
-
31
-
-
84897098159
-
Susceptibility to type 2 diabetes mellitus--from genes to prevention
-
Hivert M.F., Vassy J.L., Meigs J.B. Susceptibility to type 2 diabetes mellitus--from genes to prevention. Nat Rev Endocrinol 2014, 10:198-205.
-
(2014)
Nat Rev Endocrinol
, vol.10
, pp. 198-205
-
-
Hivert, M.F.1
Vassy, J.L.2
Meigs, J.B.3
-
32
-
-
80555136780
-
APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy
-
Kopp J.B., Nelson G.W., Sampath K., Johnson R.C., Genovese G., An P., et al. APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy. J Am Soc Nephrol 2011, 22:2129-2137.
-
(2011)
J Am Soc Nephrol
, vol.22
, pp. 2129-2137
-
-
Kopp, J.B.1
Nelson, G.W.2
Sampath, K.3
Johnson, R.C.4
Genovese, G.5
An, P.6
-
34
-
-
84930447149
-
Clinical features and histology of apolipoprotein L1-associated nephropathy in the FSGS clinical trial
-
Kopp J.B., Winkler C.A., Zhao X., Radeva M.K., Gassman J.J., D'Agati V.D., et al. Clinical features and histology of apolipoprotein L1-associated nephropathy in the FSGS clinical trial. J Am Soc Nephrol 2015, 26:1443-1448.
-
(2015)
J Am Soc Nephrol
, vol.26
, pp. 1443-1448
-
-
Kopp, J.B.1
Winkler, C.A.2
Zhao, X.3
Radeva, M.K.4
Gassman, J.J.5
D'Agati, V.D.6
-
35
-
-
84889260719
-
APOL1 risk variants, race, and progression of chronic kidney disease
-
Parsa A., Kao W.H., Xie D., Astor B.C., Li M., Hsu C.Y., et al. APOL1 risk variants, race, and progression of chronic kidney disease. N Engl J Med 2013, 369:2183-2196.
-
(2013)
N Engl J Med
, vol.369
, pp. 2183-2196
-
-
Parsa, A.1
Kao, W.H.2
Xie, D.3
Astor, B.C.4
Li, M.5
Hsu, C.Y.6
-
36
-
-
79955529193
-
The APOL1 gene and allograft survival after kidney transplantation
-
Reeves-Daniel A.M., DePalma J.A., Bleyer A.J., Rocco M.V., Murea M., Adams P.L., et al. The APOL1 gene and allograft survival after kidney transplantation. Am J Transplant 2011, 11:1025-1030.
-
(2011)
Am J Transplant
, vol.11
, pp. 1025-1030
-
-
Reeves-Daniel, A.M.1
DePalma, J.A.2
Bleyer, A.J.3
Rocco, M.V.4
Murea, M.5
Adams, P.L.6
-
37
-
-
84863186244
-
The APOL1 genotype of African American kidney transplant recipients does not impact 5-year allograft survival
-
Lee B.T., Kumar V., Williams T.A., Abdi R., Bernhardy A., Dyer C., et al. The APOL1 genotype of African American kidney transplant recipients does not impact 5-year allograft survival. Am J Transplant 2012, 12:1924-1928.
-
(2012)
Am J Transplant
, vol.12
, pp. 1924-1928
-
-
Lee, B.T.1
Kumar, V.2
Williams, T.A.3
Abdi, R.4
Bernhardy, A.5
Dyer, C.6
-
38
-
-
84897867608
-
The impact of APOL1, CAV1, and ABCB1 gene variants on outcomes in kidney transplantation: donor and recipient effects
-
Palanisamy A., Reeves-Daniel A.M., Freedman B.I. The impact of APOL1, CAV1, and ABCB1 gene variants on outcomes in kidney transplantation: donor and recipient effects. Pediatr Nephrol 2014, 29:1485-1492.
-
(2014)
Pediatr Nephrol
, vol.29
, pp. 1485-1492
-
-
Palanisamy, A.1
Reeves-Daniel, A.M.2
Freedman, B.I.3
-
39
-
-
84906222536
-
Genetic-based prediction of disease traits: prediction is very difficult, especially about the future
-
Schrodi S.J., Mukherjee S., Shan Y., Tromp G., Sninsky J.J., Callear A.P., et al. Genetic-based prediction of disease traits: prediction is very difficult, especially about the future. Front Genet 2014, 5:162.
-
(2014)
Front Genet
, vol.5
, pp. 162
-
-
Schrodi, S.J.1
Mukherjee, S.2
Shan, Y.3
Tromp, G.4
Sninsky, J.J.5
Callear, A.P.6
-
40
-
-
84919714615
-
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome
-
Lovric S., Fang H., Vega-Warner V., Sadowski C.E., Gee H.Y., Halbritter J., et al. Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2014, 9:1109-1116.
-
(2014)
Clin J Am Soc Nephrol
, vol.9
, pp. 1109-1116
-
-
Lovric, S.1
Fang, H.2
Vega-Warner, V.3
Sadowski, C.E.4
Gee, H.Y.5
Halbritter, J.6
-
41
-
-
84899476119
-
Guidelines for investigating causality of sequence variants in human disease
-
MacArthur D.G., Manolio T.A., Dimmock D.P., Rehm H.L., Shendure J., Abecasis G.R., et al. Guidelines for investigating causality of sequence variants in human disease. Nature 2014, 508:469-476.
-
(2014)
Nature
, vol.508
, pp. 469-476
-
-
MacArthur, D.G.1
Manolio, T.A.2
Dimmock, D.P.3
Rehm, H.L.4
Shendure, J.5
Abecasis, G.R.6
-
42
-
-
84899943190
-
Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing
-
Brown E.J., Pollak M.R., Barua M. Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing. Kidney Int 2014, 85:1030-1038.
-
(2014)
Kidney Int
, vol.85
, pp. 1030-1038
-
-
Brown, E.J.1
Pollak, M.R.2
Barua, M.3
-
43
-
-
70349621624
-
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review
-
Lowik M.M., Groenen P.J., Levtchenko E.N., Monnens L.A., van den Heuvel L.P. Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review. Eur J Pediatr 2009, 168:1291-1304.
-
(2009)
Eur J Pediatr
, vol.168
, pp. 1291-1304
-
-
Lowik, M.M.1
Groenen, P.J.2
Levtchenko, E.N.3
Monnens, L.A.4
van den Heuvel, L.P.5
-
44
-
-
84879689746
-
Genetic screening in adolescents with steroid-resistant nephrotic syndrome
-
Lipska B.S., Iatropoulos P., Maranta R., Caridi G., Ozaltin F., Anarat A., et al. Genetic screening in adolescents with steroid-resistant nephrotic syndrome. Kidney Int 2013, 84:206-213.
-
(2013)
Kidney Int
, vol.84
, pp. 206-213
-
-
Lipska, B.S.1
Iatropoulos, P.2
Maranta, R.3
Caridi, G.4
Ozaltin, F.5
Anarat, A.6
-
45
-
-
84929072114
-
Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis
-
Laurin L.P., Lu M., Mottl A.K., Blyth E.R., Poulton C.J., Weck K.E. Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis. Nephrol Dial Transplant 2014, 29:2062-2069.
-
(2014)
Nephrol Dial Transplant
, vol.29
, pp. 2062-2069
-
-
Laurin, L.P.1
Lu, M.2
Mottl, A.K.3
Blyth, E.R.4
Poulton, C.J.5
Weck, K.E.6
-
46
-
-
84861139244
-
Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice
-
Rood I.M., Deegens J.K., Wetzels J.F. Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice. Nephrol Dial Transplant 2012, 27:882-890.
-
(2012)
Nephrol Dial Transplant
, vol.27
, pp. 882-890
-
-
Rood, I.M.1
Deegens, J.K.2
Wetzels, J.F.3
-
47
-
-
0032015551
-
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome
-
Kestila M., Lenkkeri U., Männikkö M., Lamerdin J., McCready P., Putaala H., et al. Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell 1998, 1:575-582.
-
(1998)
Mol Cell
, vol.1
, pp. 575-582
-
-
Kestila, M.1
Lenkkeri, U.2
Männikkö, M.3
Lamerdin, J.4
McCready, P.5
Putaala, H.6
-
48
-
-
34147096001
-
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)
-
Hinkes B.G., Mucha B., Vlangos C.N., Gbadegesin R., Liu J., Hasselbacher K., et al. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 2007, 119:e907-e919.
-
(2007)
Pediatrics
, vol.119
, pp. e907-e919
-
-
Hinkes, B.G.1
Mucha, B.2
Vlangos, C.N.3
Gbadegesin, R.4
Liu, J.5
Hasselbacher, K.6
-
49
-
-
84864565433
-
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients
-
Buscher A.K., Konrad M., Nagel M., Witzke O., Kribben A., Hoyer P.F., et al. Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. Clin Nephrol 2012, 78:47-53.
-
(2012)
Clin Nephrol
, vol.78
, pp. 47-53
-
-
Buscher, A.K.1
Konrad, M.2
Nagel, M.3
Witzke, O.4
Kribben, A.5
Hoyer, P.F.6
-
50
-
-
71149119200
-
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis
-
Santin S., García-Maset R., Ruíz P., Giménez I., Zamora I., Peña A., et al. Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. Kidney Int 2009, 76:1268-1276.
-
(2009)
Kidney Int
, vol.76
, pp. 1268-1276
-
-
Santin, S.1
García-Maset, R.2
Ruíz, P.3
Giménez, I.4
Zamora, I.5
Peña, A.6
-
51
-
-
79957817729
-
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome
-
Santin S., Bullich G., Tazón-Vega B., García-Maset R., Giménez I., Silva I., et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2011, 6:1139-1148.
-
(2011)
Clin J Am Soc Nephrol
, vol.6
, pp. 1139-1148
-
-
Santin, S.1
Bullich, G.2
Tazón-Vega, B.3
García-Maset, R.4
Giménez, I.5
Silva, I.6
-
52
-
-
59149091746
-
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis
-
Gilbert R.D., Turner C.L., Gibson J., Bass P.S., Haq M.R., Cross E., et al. Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. Kidney Int 2009, 75:415-419.
-
(2009)
Kidney Int
, vol.75
, pp. 415-419
-
-
Gilbert, R.D.1
Turner, C.L.2
Gibson, J.3
Bass, P.S.4
Haq, M.R.5
Cross, E.6
-
53
-
-
84863116742
-
A systematic survey of loss-of-function variants in human protein-coding genes
-
MacArthur D.G., Balasubramanian S., Frankish A., Huang N., Morris J., Walter K., et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012, 335:823-828.
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
Balasubramanian, S.2
Frankish, A.3
Huang, N.4
Morris, J.5
Walter, K.6
-
54
-
-
54149117148
-
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome
-
Heeringa S.F., Vlangos C.N., Chernin G., Hinkes B., Gbadegesin R., Liu J., et al. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Transplant 2008, 23:3527-3533.
-
(2008)
Nephrol Dial Transplant
, vol.23
, pp. 3527-3533
-
-
Heeringa, S.F.1
Vlangos, C.N.2
Chernin, G.3
Hinkes, B.4
Gbadegesin, R.5
Liu, J.6
-
55
-
-
77956293608
-
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum
-
Matejas V., Hinkes B., Alkandari F., Al-Gazali L., Annexstad E., Aytac M.B., et al. Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat 2010, 31:992-1002.
-
(2010)
Hum Mutat
, vol.31
, pp. 992-1002
-
-
Matejas, V.1
Hinkes, B.2
Alkandari, F.3
Al-Gazali, L.4
Annexstad, E.5
Aytac, M.B.6
-
56
-
-
84860787585
-
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients
-
Ovunc B., Ashraf S., Vega-Warner V., Bockenhauer D., Elshakhs N.A., Joseph M., et al. Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract 2012, 120:c139-c146.
-
(2012)
Nephron Clin Pract
, vol.120
, pp. c139-c146
-
-
Ovunc, B.1
Ashraf, S.2
Vega-Warner, V.3
Bockenhauer, D.4
Elshakhs, N.A.5
Joseph, M.6
-
57
-
-
84888198606
-
Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy
-
Wong W., Morris M.C., Kara T. Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. Pediatr Nephrol 2013, 28:2313-2321.
-
(2013)
Pediatr Nephrol
, vol.28
, pp. 2313-2321
-
-
Wong, W.1
Morris, M.C.2
Kara, T.3
-
58
-
-
33751531864
-
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
-
Hinkes B., Wiggins R.C., Gbadegesin R., Vlangos C.N., Seelow D., Nürnberg G., et al. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 2006, 38:1397-1405.
-
(2006)
Nat Genet
, vol.38
, pp. 1397-1405
-
-
Hinkes, B.1
Wiggins, R.C.2
Gbadegesin, R.3
Vlangos, C.N.4
Seelow, D.5
Nürnberg, G.6
-
59
-
-
84895887522
-
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
-
Tory K., Menyhárd D.K., Woerner S., Nevo F., Gribouval O., Kerti A., et al. Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. Nat Genet 2014, 46:299-304.
-
(2014)
Nat Genet
, vol.46
, pp. 299-304
-
-
Tory, K.1
Menyhárd, D.K.2
Woerner, S.3
Nevo, F.4
Gribouval, O.5
Kerti, A.6
-
60
-
-
38049171118
-
Variation of breast cancer risk among BRCA1/2 carriers
-
Begg C.B., Haile R.W., Borg A., Malone K.E., Concannon P., Thomas D.C., et al. Variation of breast cancer risk among BRCA1/2 carriers. JAMA 2008, 299:194-201.
-
(2008)
JAMA
, vol.299
, pp. 194-201
-
-
Begg, C.B.1
Haile, R.W.2
Borg, A.3
Malone, K.E.4
Concannon, P.5
Thomas, D.C.6
-
61
-
-
0037132786
-
Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
Beutler E., Felitti V.J., Koziol J.A., Ho N.J., Gelbart T. Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002, 359:211-218.
-
(2002)
Lancet
, vol.359
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
Ho, N.J.4
Gelbart, T.5
-
62
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen J.A., Bigham A.W., O'Connor T.D., Fu W., Kenny E.E., Gravel S., et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012, 337:64-69.
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
Fu, W.4
Kenny, E.E.5
Gravel, S.6
-
63
-
-
84870900036
-
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing
-
Xue Y., Chen Y., Ayub Q., Huang N., Ball E.V., Mort M., et al. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet 2012, 91:1022-1032.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 1022-1032
-
-
Xue, Y.1
Chen, Y.2
Ayub, Q.3
Huang, N.4
Ball, E.V.5
Mort, M.6
-
64
-
-
84887110294
-
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
-
Flannick J., Beer N.L., Bick A.G., Agarwala V., Molnes J., Gupta N., et al. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet 2013, 45:1380-1385.
-
(2013)
Nat Genet
, vol.45
, pp. 1380-1385
-
-
Flannick, J.1
Beer, N.L.2
Bick, A.G.3
Agarwala, V.4
Molnes, J.5
Gupta, N.6
-
65
-
-
84890389952
-
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia
-
Jabbari J., Jabbari R., Nielsen M.W., Holst A.G., Nielsen J.B., Haunsø S., et al. New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet 2013, 6:481-489.
-
(2013)
Circ Cardiovasc Genet
, vol.6
, pp. 481-489
-
-
Jabbari, J.1
Jabbari, R.2
Nielsen, M.W.3
Holst, A.G.4
Nielsen, J.B.5
Haunsø, S.6
-
66
-
-
84911174078
-
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS
-
Huynh Cong E., Bizet A.A., Boyer O., Woerner S., Gribouval O., Filhol E., et al. A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. J Am Soc Nephrol 2014, 25:2435-2443.
-
(2014)
J Am Soc Nephrol
, vol.25
, pp. 2435-2443
-
-
Huynh Cong, E.1
Bizet, A.A.2
Boyer, O.3
Woerner, S.4
Gribouval, O.5
Filhol, E.6
-
67
-
-
84926212923
-
Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis
-
Malone A.F., et al. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. Kidney Int 2014, 86:1253-1259.
-
(2014)
Kidney Int
, vol.86
, pp. 1253-1259
-
-
Malone, A.F.1
-
68
-
-
84875701332
-
Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach
-
Gadegbeku C.A., Gipson D.S., Holzman L.B., Ojo A.O., Song P.X., Barisoni L., et al. Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach. Kidney Int 2013, 83:749-756.
-
(2013)
Kidney Int
, vol.83
, pp. 749-756
-
-
Gadegbeku, C.A.1
Gipson, D.S.2
Holzman, L.B.3
Ojo, A.O.4
Song, P.X.5
Barisoni, L.6
|