-
1
-
-
84884416457
-
Rare-disease genetics in the era of next-generation sequencing:discovery to translation
-
Boycott, K.M., Vanstone, M.R., Bulman, D.E., MacKenzie, A.E.(2013) Rare-disease genetics in the era of next-generation sequencing:discovery to translation. Nat. Rev. Genet., 14, 681-691.
-
(2013)
Nat. Rev. Genet
, vol.14
, pp. 681-691
-
-
Boycott, K.M.1
Vanstone, M.R.2
Bulman, D.E.3
MacKenzie, A.E.4
-
2
-
-
0038670579
-
The human phenome project
-
Freimer, N., Sabatti, C. (2003) The human phenome project. Nat.Genet., 34, 15-21.
-
(2003)
Nat.Genet
, vol.34
, pp. 15-21
-
-
Freimer, N.1
Sabatti, C.2
-
3
-
-
84954358609
-
The Human Phenotype Ontology: A tool forannotating and analyzing human hereditary disease
-
Robinson, P.N., Kohler, S., Bauer, S., Seelow, D., Horn, D. andMundlos, S. (2008) The Human Phenotype Ontology: A tool forannotating and analyzing human hereditary disease. Am. J. Hum.Genet., 83, 610-615.
-
(2008)
Am. J. Hum.Genet
, vol.83
, pp. 610-615
-
-
Robinson, P.N.1
Köhler, S.2
Bauer, S.3
Seelow, D.4
Horn, D.5
Mundlos, S.6
-
4
-
-
84937523757
-
The human phenotype ontology: Semantic unification ofcommon and rare disease
-
Groza, T., Kohler, S., Moldenhauer, D., Vasilevsky, N., Baynam, G., Zemojtel, T., Schriml, L.M., Kibbe, W.A., Schofield, P.N., Beck, T., et al.(2015) The human phenotype ontology: Semantic unification ofcommon and rare disease. Am. J. Hum. Genet., 97, 111-124.
-
(2015)
Am. J. Hum. Genet
, vol.97
, pp. 111-124
-
-
Groza, T.1
Kohler, S.2
Moldenhauer, D.3
Vasilevsky, N.4
Baynam, G.5
Zemojtel, T.6
Schriml, L.M.7
Kibbe, W.A.8
Schofield, P.N.9
Beck, T.10
-
5
-
-
85012119105
-
Industrializing rare disease therapy discovery anddevelopment
-
Ekins, S. (2017) Industrializing rare disease therapy discovery anddevelopment. Nat. Biotechnol., 35, 117-118.
-
(2017)
Nat. Biotechnol
, vol.35
, pp. 117-118
-
-
Ekins, S.1
-
6
-
-
85021177741
-
Towards efficiency in rare disease research:what is distinctive and important Sci
-
Jia, J., Shi, T. (2017) Towards efficiency in rare disease research:what is distinctive and important Sci. China. Life Sci., 60, 686-691.
-
(2017)
China. Life Sci
, vol.60
, pp. 686-691
-
-
Jia, J.1
Shi, T.2
-
7
-
-
84878013056
-
Rare diseases and now rare data
-
Mascalzoni, D., Knoppers, B.M., Ayme, S., Macilotti, M., Dawkins, H., Woods, S., Hansson, M.G. (2013) Rare diseases and now rare dataNat. Rev. Genet., 14, 372.
-
(2013)
Nat. Rev. Genet
, vol.14
, pp. 372
-
-
Mascalzoni, D.1
Knoppers, B.M.2
Ayme, S.3
MacIlotti, M.4
Dawkins, H.5
Woods, S.6
Hansson, M.G.7
-
8
-
-
85012014487
-
Data quality in rare cancersregistration: The report of the RARECARE data quality study
-
Trama, A., Marcos-Gragera, R., Sanchez Perez, M.J., van derZwan, J.M., Ardanaz, E., Bouchardy, C., Melchor, J.M., Martinez, C., Capocaccia, R., Vicentini, M., et al. (2017) Data quality in rare cancersregistration: The report of the RARECARE data quality study.Tumori, 103, 22-32.
-
(2017)
Tumori
, vol.103
, pp. 22-32
-
-
Trama, A.1
Marcos-Gragera, R.2
Sanchez Perez, M.J.3
Van DerZwan, J.M.4
Ardanaz, E.5
Bouchardy, C.6
Melchor, J.M.7
Martinez, C.8
Capocaccia, R.9
Vicentini, M.10
-
9
-
-
85016157457
-
MalaCards: An amalgamated human disease compendium withdiverse clinical and genetic annotation and structured search
-
Rappaport, N., Twik, M., Plaschkes, I., Nudel, R., Iny Stein, T., Levitt, J., Gershoni, M., Morrey, C.P., Safran, M., Lancet, D. (2017)MalaCards: An amalgamated human disease compendium withdiverse clinical and genetic annotation and structured search. NucleicAcids Res., 45, D877-D887.
-
(2017)
NucleicAcids Res
, vol.45
, pp. D877-D887
-
-
Rappaport, N.1
Twik, M.2
Plaschkes, I.3
Nudel, R.4
Iny Stein, T.5
Levitt, J.6
Gershoni, M.7
Morrey, C.P.8
Safran, M.9
Lancet, D.10
-
10
-
-
85009959822
-
Clinical practice guidelines for rare diseases: Theorphanet database
-
Pavan, S., Rommel, K., Mateo Marquina, M.E., Hohn, S., Lanneau, V.and Rath, A. (2017) Clinical practice guidelines for rare diseases: Theorphanet database. PLoS One, 12, e0170365.
-
(2017)
PLoS One
, vol.12
, pp. e0170365
-
-
Pavan, S.1
Rommel, K.2
Mateo Marquina, M.E.3
Hohn, S.4
Lanneau, V.5
Rath, A.6
-
11
-
-
78650446255
-
TheUMLS-CORE project: A study of the problem list terminologies usedin large healthcare institutions
-
Fung, K.W., McDonald, C., Srinivasan, S. (2010) TheUMLS-CORE project: A study of the problem list terminologies usedin large healthcare institutions. J. Am. Med. Informatics Assoc:JAMIA, 17, 675-680.
-
(2010)
J. Am. Med. Informatics Assoc:JAMIA
, vol.17
, pp. 675-680
-
-
Fung, K.W.1
McDonald, C.2
Srinivasan, S.3
-
12
-
-
0028249078
-
Lexical methodsfor managing variation in biomedical terminologies
-
McCray, A.T., Srinivasan, S., Browne, A.C. (1994) Lexical methodsfor managing variation in biomedical terminologies. Proc. Symp.Comput. Appl. Med. Care, 235-239.
-
(1994)
Proc. Symp.Comput. Appl. Med. Care
, pp. 235-239
-
-
McCray, A.T.1
Srinivasan, S.2
Browne, A.C.3
-
13
-
-
85018752274
-
International cooperation to enable thediagnosis of all rare genetic diseases
-
Boycott, K.M., Rath, A., Chong, J.X., Hartley, T., Alkuraya, F.S., Baynam, G., Brookes, A.J., Brudno, M., Carracedo, A., denDunnen, J.T., et al. (2017) International Cooperation to Enable theDiagnosis of All Rare Genetic Diseases. Am. J. Hum. Genet., 100, 695-705.
-
(2017)
Am. J. Hum. Genet
, vol.100
, pp. 695-705
-
-
Boycott, K.M.1
Rath, A.2
Chong, J.X.3
Hartley, T.4
Alkuraya, F.S.5
Baynam, G.6
Brookes, A.J.7
Brudno, M.8
Carracedo, A.9
DenDunnen, J.T.10
-
14
-
-
84946081339
-
OMIM.org: Online Mendelian Inheritance inMan (OMIM(R)), an online catalog of human genes and geneticdisorders
-
Amberger, J.S., Bocchini, C.A., Schiettecatte, F., Scott, A.F. andHamosh, A. (2015) OMIM.org: Online Mendelian Inheritance inMan (OMIM(R)), an online catalog of human genes and geneticdisorders. Nucleic Acids Res., 43, D789-D798.
-
(2015)
Nucleic Acids Res
, vol.43
, pp. D789-D798
-
-
Amberger, J.S.1
Bocchini, C.A.2
Schiettecatte, F.3
Scott, A.F.4
Hamosh, A.5
-
15
-
-
84941103725
-
DiseaseOntology 2015 update: An expanded and updated database of humandiseases for linking biomedical knowledge through disease data
-
Kibbe, W.A., Arze, C., Felix, V., Mitraka, E., Bolton, E., Fu, G., Mungall, C.J., Binder, J.X., Malone, J., Vasant, D., et al. (2015) DiseaseOntology 2015 update: An expanded and updated database of humandiseases for linking biomedical knowledge through disease data.Nucleic Acids Res., 43, D1071-D1078.
-
(2015)
Nucleic Acids Res
, vol.43
, pp. D1071-D1078
-
-
Kibbe, W.A.1
Arze, C.2
Felix, V.3
Mitraka, E.4
Bolton, E.5
Fu, G.6
Mungall, C.J.7
Binder, J.X.8
Malone, J.9
Vasant, D.10
-
16
-
-
85015982066
-
The Human Phenotype Ontology in 2017
-
Kohler, S., Vasilevsky, N.A., Engelstad, M., Foster, E., McMurry, J., Ayme, S., Baynam, G., Bello, S.M., Boerkoel, C.F., Boycott, K.M., et al.(2017) The Human Phenotype Ontology in 2017. Nucleic Acids Res., 45, D865-D876.
-
(2017)
Nucleic Acids Res
, vol.45
, pp. D865-D876
-
-
Kohler, S.1
Vasilevsky, N.A.2
Engelstad, M.3
Foster, E.4
McMurry, J.5
Ayme, S.6
Baynam, G.7
Bello, S.M.8
Boerkoel, C.F.9
Boycott, K.M.10
-
17
-
-
84882647236
-
Towards building adisease-phenotype knowledge base: Extracting disease-manifestationrelationship from literature
-
Xu, R., Li, L., Wang, Q. (2013) Towards building adisease-phenotype knowledge base: Extracting disease-manifestationrelationship from literature. Bioinformatics, 29, 2186-2194.
-
(2013)
Bioinformatics
, vol.29
, pp. 2186-2194
-
-
Xu, R.1
Li, L.2
Wang, Q.3
-
18
-
-
84887041034
-
EXtasy: Variant prioritization by genomic datafusion
-
Sifrim, A., Popovic, D., Tranchevent, L.C., Ardeshirdavani, A., Sakai, R., Konings, P., Vermeesch, J.R., Aerts, J., De Moor, B. andMoreau, Y. (2013) eXtasy: Variant prioritization by genomic datafusion. Nat. Methods, 10, 1083-1084.
-
(2013)
Nat. Methods
, vol.10
, pp. 1083-1084
-
-
Sifrim, A.1
Popovic, D.2
Tranchevent, L.C.3
Ardeshirdavani, A.4
Sakai, R.5
Konings, P.6
Vermeesch, J.R.7
Aerts, J.8
De Moor, B.9
Moreau, Y.10
-
19
-
-
84915803267
-
Effectiveness of exome and genomesequencing guided by acuity of illness for diagnosis ofneurodevelopmental disorders
-
Soden, S.E., Saunders, C.J., Willig, L.K., Farrow, E.G., Smith, L.D., Petrikin, J.E., LePichon, J.B., Miller, N.A., Thiffault, I., Dinwiddie, D.L., et al. (2014) Effectiveness of exome and genomesequencing guided by acuity of illness for diagnosis ofneurodevelopmental disorders. Sci. Transl. Med., 6, 265ra168.
-
(2014)
Sci. Transl. Med
, vol.6
, pp. 265ra168
-
-
Soden, S.E.1
Saunders, C.J.2
Willig, L.K.3
Farrow, E.G.4
Smith, L.D.5
Petrikin, J.E.6
LePichon, J.B.7
Miller, N.A.8
Thiffault, I.9
Dinwiddie, D.L.10
-
20
-
-
84864332063
-
Deep phenotyping for precision medicine
-
Robinson, P.N. (2012) Deep phenotyping for precision medicine.Hum. Mutat., 33, 777-780.
-
(2012)
Hum. Mutat
, vol.33
, pp. 777-780
-
-
Robinson, P.N.1
-
21
-
-
70350474767
-
Clinicaldiagnostics in human genetics with semantic similarity searches inontologies
-
Kohler, S., Schulz, M.H., Krawitz, P., Bauer, S., Dolken, S., Ott, C.E., Mundlos, C., Horn, D., Mundlos, S., Robinson, P.N. (2009) Clinicaldiagnostics in human genetics with semantic similarity searches inontologies. Am. J. Hum. Genet., 85, 457-464.
-
(2009)
Am. J. Hum. Genet
, vol.85
, pp. 457-464
-
-
Kohler, S.1
Schulz, M.H.2
Krawitz, P.3
Bauer, S.4
Dolken, S.5
Ott, C.E.6
Mundlos, C.7
Horn, D.8
Mundlos, S.9
Robinson, P.N.10
-
22
-
-
84867331444
-
The Mammalian PhenotypeOntology as a unifying standard for experimental andhigh-throughput phenotyping data
-
Smith, C.L., Eppig, J.T. (2012) The Mammalian PhenotypeOntology as a unifying standard for experimental andhigh-throughput phenotyping data. Mamm. Genome, 23, 653-668.
-
(2012)
Mamm. Genome
, vol.23
, pp. 653-668
-
-
Smith, C.L.1
Eppig, J.T.2
-
23
-
-
85016153986
-
UniProt: The universal proteinknowledgebase
-
The UniProt, C. (2017) UniProt: The universal proteinknowledgebase. Nucleic Acids Res., 45, D158-D169.
-
(2017)
Nucleic Acids Res
, vol.45
, pp. D158-D169
-
-
The UniProt, C.1
-
24
-
-
79960976768
-
UniProt Knowledgebase: A hubof integrated protein data
-
bar009
-
Magrane, M., UniProt, C. (2011) UniProt Knowledgebase: A hubof integrated protein data. Database, 2011, bar009.
-
(2011)
Database
, vol.2011
-
-
Magrane, M.1
UniProt, C.2
-
25
-
-
84946062228
-
UniProtKB/Swiss-Prot, the Manually Annotated Section of theUniProt KnowledgeBase: How to Use the Entry View
-
Boutet, E., Lieberherr, D., Tognolli, M., Schneider, M., Bansal, P., Bridge, A.J., Poux, S., Bougueleret, L., Xenarios, I. (2016)UniProtKB/Swiss-Prot, the Manually Annotated Section of theUniProt KnowledgeBase: How to Use the Entry View. Methods Mol.Biol., 1374, 23-54.
-
(2016)
Methods Mol.Biol
, vol.1374
, pp. 23-54
-
-
Boutet, E.1
Lieberherr, D.2
Tognolli, M.3
Schneider, M.4
Bansal, P.5
Bridge, A.J.6
Poux, S.7
Bougueleret, L.8
Xenarios, I.9
-
26
-
-
84976904305
-
ClinVar: Public archive of interpretations of clinically relevantvariants
-
Landrum, M.J., Lee, J.M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Hoover, J., et al. (2016)ClinVar: Public archive of interpretations of clinically relevantvariants. Nucleic Acids Res., 44, D862-D868.
-
(2016)
Nucleic Acids Res
, vol.44
, pp. D862-D868
-
-
Landrum, M.J.1
Lee, J.M.2
Benson, M.3
Brown, G.4
Chao, C.5
Chitipiralla, S.6
Gu, B.7
Hart, J.8
Hoffman, D.9
Hoover, J.10
-
27
-
-
84923884337
-
DISEASES: Text mining and data integration ofdisease-gene associations
-
Pletscher-Frankild, S., Palleja, A., Tsafou, K., Binder, J.X. andJensen, L.J. (2015) DISEASES: Text mining and data integration ofdisease-gene associations. Methods, 74, 83-89.
-
(2015)
Methods
, vol.74
, pp. 83-89
-
-
Pletscher-Frankild, S.1
Palleja, A.2
Tsafou, K.3
Binder, J.X.4
Jensen, L.J.5
-
28
-
-
85016126262
-
DisGeNET: A comprehensive platform integrating informationon human disease-associated genes and variants
-
Pinero, J., Bravo, A., Queralt-Rosinach, N., Gutierrez-Sacristan, A., Deu-Pons, J., Centeno, E., Garcia-Garcia, J., Sanz, F., Furlong, L.I.(2017) DisGeNET: A comprehensive platform integrating informationon human disease-associated genes and variants. Nucleic Acids Res., 45, D833-D839.
-
(2017)
Nucleic Acids Res
, vol.45
, pp. D833-D839
-
-
Pinero, J.1
Bravo, A.2
Queralt-Rosinach, N.3
Gutierrez-Sacristan, A.4
Deu-Pons, J.5
Centeno, E.6
Garcia-Garcia, J.7
Sanz, F.8
Furlong, L.I.9
-
29
-
-
84939221315
-
DisGeNET: A discovery platform for the dynamical exploration ofhuman diseases and their genes
-
bav028
-
Pinero, J., Queralt-Rosinach, N., Bravo, A., Deu-Pons, J., Bauer-Mehren, A., Baron, M., Sanz, F., Furlong, L.I. (2015)DisGeNET: A discovery platform for the dynamical exploration ofhuman diseases and their genes. Database, 2015, bav028.
-
(2015)
Database
, vol.2015
-
-
Pinero, J.1
Queralt-Rosinach, N.2
Bravo, A.3
Deu-Pons, J.4
Bauer-Mehren, A.5
Baron, M.6
Sanz, F.7
Furlong, L.I.8
-
30
-
-
43249114206
-
Network-based globalinference of human disease genes
-
Wu, X., Jiang, R., Zhang, M.Q., Li, S. (2008) Network-based globalinference of human disease genes. Mol. Syst. Biol., 4, 189.
-
(2008)
Mol. Syst. Biol
, vol.4
, pp. 189
-
-
Wu, X.1
Jiang, R.2
Zhang, M.Q.3
Li, S.4
-
31
-
-
84976871516
-
GWASdbv2: An update database for human genetic variants identified bygenome-wide association studies
-
Li, M.J., Liu, Z., Wang, P., Wong, M.P., Nelson, M.R., Kocher, J.P., Yeager, M., Sham, P.C., Chanock, S.J., Xia, Z., et al. (2016) GWASdbv2: An update database for human genetic variants identified bygenome-wide association studies. Nucleic Acids Res., 44, D869-D876.
-
(2016)
Nucleic Acids Res
, vol.44
, pp. D869-D876
-
-
Li, M.J.1
Liu, Z.2
Wang, P.3
Wong, M.P.4
Nelson, M.R.5
Kocher, J.P.6
Yeager, M.7
Sham, P.C.8
Chanock, S.J.9
Xia, Z.10
-
32
-
-
81255160576
-
Novel LOVD databases forhereditary breast cancer and colorectal cancer genes in the Chinesepopulation
-
Pan, M., Cong, P., Wang, Y., Lin, C., Yuan, Y., Dong, J., Banerjee, S., Zhang, T., Chen, Y., Zhang, T., et al. (2011) Novel LOVD databases forhereditary breast cancer and colorectal cancer genes in the Chinesepopulation. Hum. Mutat., 32, 1335-1340.
-
(2011)
Hum. Mutat
, vol.32
, pp. 1335-1340
-
-
Pan, M.1
Cong, P.2
Wang, Y.3
Lin, C.4
Yuan, Y.5
Dong, J.6
Banerjee, S.7
Zhang, T.8
Chen, Y.9
Zhang, T.10
-
33
-
-
84880383420
-
PharmGKB: Thepharmacogenomics knowledge base
-
Thorn, C.F., Klein, T.E., Altman, R.B. (2013) PharmGKB: Thepharmacogenomics knowledge base. Methods Mol. Biol., 1015, 311-320.
-
(2013)
Methods Mol. Biol
, vol.1015
, pp. 311-320
-
-
Thorn, C.F.1
Klein, T.E.2
Altman, R.B.3
-
34
-
-
84904793868
-
DiseaseConnect: A comprehensive web server for mechanism-baseddisease-disease connections
-
Liu, C.C., Tseng, Y.T., Li, W., Wu, C.Y., Mayzus, I., Rzhetsky, A., Sun, F., Waterman, M., Chen, J.J., Chaudhary, P.M., et al. (2014)DiseaseConnect: A comprehensive web server for mechanism-baseddisease-disease connections. Nucleic Acids Res., 42, W137-W146.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. W137-W146
-
-
Liu, C.C.1
Tseng, Y.T.2
Li, W.3
Wu, C.Y.4
Mayzus, I.5
Rzhetsky, A.6
Sun, F.7
Waterman, M.8
Chen, J.J.9
Chaudhary, P.M.10
-
35
-
-
84964491349
-
Uncovering disease mechanisms through networkbiology in the era of Next Generation Sequencing
-
Pinero, J., Berenstein, A., Gonzalez-Perez, A., Chernomoretz, A. andFurlong, L.I. (2016) Uncovering disease mechanisms through networkbiology in the era of Next Generation Sequencing. Scientific Rep., 6, 24570.
-
(2016)
Scientific Rep
, vol.6
, pp. 24570
-
-
Pinero, J.1
Berenstein, A.2
Gonzalez-Perez, A.3
Chernomoretz, A.4
Furlong, L.I.5
-
36
-
-
84895471419
-
Structural network analysis ofbiological networks for assessment of potential disease modelorganisms
-
Nabhan, A.R., Sarkar, I.N. (2014) Structural network analysis ofbiological networks for assessment of potential disease modelorganisms. J. Biomed. Inform., 47, 178-191.
-
(2014)
J. Biomed. Inform
, vol.47
, pp. 178-191
-
-
Nabhan, A.R.1
Sarkar, I.N.2
-
37
-
-
84903639346
-
Humansymptoms-disease network
-
Zhou, X., Menche, J., Barabasi, A.L., Sharma, A. (2014) Humansymptoms-disease network. Nat. Commun., 5, 4212.
-
(2014)
Nat. Commun
, vol.5
, pp. 4212
-
-
Zhou, X.1
Menche, J.2
Barabasi, A.L.3
Sharma, A.4
-
38
-
-
85019580293
-
A diseasesimilarity matrix based on the uniqueness of shared genes
-
Carson, M.B., Liu, C., Lu, Y., Jia, C., Lu, H. (2017) A diseasesimilarity matrix based on the uniqueness of shared genes. BMCMed. Genet., 10, 26.
-
(2017)
BMCMed. Genet
, vol.10
, pp. 26
-
-
Carson, M.B.1
Liu, C.2
Lu, Y.3
Jia, C.4
Lu, H.5
-
39
-
-
84864360933
-
Integration of globalresources for human genetic variation and disease
-
Schofield, P.N., Hancock, J.M. (2012) Integration of globalresources for human genetic variation and disease. Hum. Mutat., 33, 813-816.
-
(2012)
Hum. Mutat
, vol.33
, pp. 813-816
-
-
Schofield, P.N.1
Hancock, J.M.2
-
40
-
-
57649109461
-
Clinical research for rare disease:opportunities challenges, and solutions
-
Griggs, R.C., Batshaw, M., Dunkle, M., Gopal-Srivastava, R., Kaye, E., Krischer, J., Nguyen, T., Paulus, K., Merkel, P.A., Rare DiseasesClinical Research, N. (2009) Clinical research for rare disease:opportunities, challenges, and solutions. Mol. Genet. Metab., 96, 20-26.
-
(2009)
Mol. Genet. Metab
, vol.96
, pp. 20-26
-
-
Griggs, R.C.1
Batshaw, M.2
Dunkle, M.3
Gopal-Srivastava, R.4
Kaye, E.5
Krischer, J.6
Nguyen, T.7
Paulus, K.8
Merkel, P.A.9
-
41
-
-
84979084819
-
Potential reuse ofoncology drugs in the treatment of rare diseases
-
Liu, Z., Fang, H., Slikker, W., Tong, W. (2016) Potential reuse ofoncology drugs in the treatment of rare diseases. Trends Pharmacol.Sci., 37, 843-857.
-
(2016)
Trends Pharmacol.Sci
, vol.37
, pp. 843-857
-
-
Liu, Z.1
Fang, H.2
Slikker, W.3
Tong, W.4
-
42
-
-
84902173195
-
FORGE Canada Consortium:outcomes of a 2-year national rare-disease gene-discovery project
-
Beaulieu, C.L., Majewski, J., Schwartzentruber, J., Samuels, M.E., Fernandez, B.A., Bernier, F.P., Brudno, M., Knoppers, B., Marcadier, J., Dyment, D., et al. (2014) FORGE Canada Consortium:outcomes of a 2-year national rare-disease gene-discovery project.Am. J. Hum. Genet., 94, 809-817.
-
(2014)
Am. J. Hum. Genet
, vol.94
, pp. 809-817
-
-
Beaulieu, C.L.1
Majewski, J.2
Schwartzentruber, J.3
Samuels, M.E.4
Fernandez, B.A.5
Bernier, F.P.6
Brudno, M.7
Knoppers, B.8
Marcadier, J.9
Dyment, D.10
-
43
-
-
84973578472
-
Rare inherited skin diseases and the GenomicsEngland 100 000 Genome Project
-
McGrath, J.A. (2016) Rare inherited skin diseases and the GenomicsEngland 100 000 Genome Project. Br. J. Dermatol., 174, 257-258.
-
(2016)
Br. J. Dermatol
, vol.174
, pp. 257-258
-
-
McGrath, J.A.1
-
44
-
-
85020501538
-
The challenge and promise of rare diseasediagnosis in China
-
Ni, X., Shi, T. (2017) The challenge and promise of rare diseasediagnosis in China. Sci. China. Life Sci., 60, 681-685.
-
(2017)
Sci. China. Life Sci
, vol.60
, pp. 681-685
-
-
Ni, X.1
Shi, T.2
-
45
-
-
85020546146
-
Genome-wide analysis ofdifferential DNA methylation in Silver-Russell syndrome
-
Wu, D., Gong, C., Su, C. (2017) Genome-wide analysis ofdifferential DNA methylation in Silver-Russell syndrome. Sci. China.Life Sci., 60, 692-699.
-
(2017)
Sci. China.Life Sci
, vol.60
, pp. 692-699
-
-
Wu, D.1
Gong, C.2
Su, C.3
-
46
-
-
85020492560
-
AR mutations in 28patients with androgen insensitivity syndrome (Prader grade 0-3)
-
Wang, Y., Gong, C., Wang, X., Qin, M. (2017) AR mutations in 28patients with androgen insensitivity syndrome (Prader grade 0-3).Sci. China. Life Sci., 60, 700-706.
-
(2017)
Sci. China. Life Sci
, vol.60
, pp. 700-706
-
-
Wang, Y.1
Gong, C.2
Wang, X.3
Qin, M.4
-
47
-
-
85020505216
-
Clinical feature and waveform in infantile nystagmus syndrome inchildren with FRMD7 gene mutations
-
Bai, D., Shi, W., Qi, Z., Li, W., Wei, A., Cui, Y., Li, C., Li, L. (2017)Clinical feature and waveform in infantile nystagmus syndrome inchildren with FRMD7 gene mutations. Sci. China. Life Sci., 60, 707-713.
-
(2017)
Sci. China. Life Sci
, vol.60
, pp. 707-713
-
-
Bai, D.1
Shi, W.2
Qi, Z.3
Li, W.4
Wei, A.5
Cui, Y.6
Li, C.7
Li, L.8
-
48
-
-
85020500097
-
DICER1 mutations in twelve Chinese patients with pleuropulmonaryblastoma
-
Cai, S., Wang, X., Zhao, W., Fu, L., Ma, X., Peng, X. (2017)DICER1 mutations in twelve Chinese patients with pleuropulmonaryblastoma. Sci. China. Life Sci., 60, 714-720.
-
(2017)
Sci. China. Life Sci
, vol.60
, pp. 714-720
-
-
Cai, S.1
Wang, X.2
Zhao, W.3
Fu, L.4
Ma, X.5
Peng, X.6
-
49
-
-
85021248335
-
Detection of FOXO1 break-apart status byfluorescence in situ hybridization in atypical alveolarrhabdomyosarcoma
-
Fu, L., Jin, Y., Jia, C., Zhang, J., Tai, J., Li, H., Chen, F., Shi, J., Guo, Y., Ni, X., et al. (2017) Detection of FOXO1 break-apart status byfluorescence in situ hybridization in atypical alveolarrhabdomyosarcoma. Sci. China. Life Sci., 60, 721-728.
-
(2017)
Sci. China. Life Sci
, vol.60
, pp. 721-728
-
-
Fu, L.1
Jin, Y.2
Jia, C.3
Zhang, J.4
Tai, J.5
Li, H.6
Chen, F.7
Shi, J.8
Guo, Y.9
Ni, X.10
-
50
-
-
85021238542
-
Correlation between BRAF V600Emutation and clinicopathological features in pediatric papillarythyroid carcinoma
-
Geng, J., Wang, H., Liu, Y., Tai, J., Jin, Y., Zhang, J., He, L., Fu, L., Qin, H., Song, Y., et al. (2017) Correlation between BRAF V600Emutation and clinicopathological features in pediatric papillarythyroid carcinoma. Sci. China. Life Sci., 60, 729-738.
-
(2017)
Sci. China. Life Sci
, vol.60
, pp. 729-738
-
-
Geng, J.1
Wang, H.2
Liu, Y.3
Tai, J.4
Jin, Y.5
Zhang, J.6
He, L.7
Fu, L.8
Qin, H.9
Song, Y.10
-
51
-
-
85020532769
-
Whole-exome sequencing identified compoundheterozygous variants in MMKS in a Chinese pedigree withBardet-Biedl syndrome
-
Qi, Z., Shen, Y., Fu, Q., Li, W., Yang, W., Xu, W., Chu, P., Zhang, Y. andWang, H. (2017) Whole-exome sequencing identified compoundheterozygous variants in MMKS in a Chinese pedigree withBardet-Biedl syndrome. Sci. China. Life Sci., 60, 739-745.
-
(2017)
Sci. China. Life Sci
, vol.60
, pp. 739-745
-
-
Qi, Z.1
Shen, Y.2
Fu, Q.3
Li, W.4
Yang, W.5
Xu, W.6
Chu, P.7
Zhang, Y.8
Wang, H.9
-
52
-
-
85021058900
-
The clinical and genetic characteristics inchildren with mitochondrial disease in China
-
Fang, F., Liu, Z., Fang, H., Wu, J., Shen, D., Sun, S., Ding, C., Han, T., Wu, Y., Lv, J., et al. (2017) The clinical and genetic characteristics inchildren with mitochondrial disease in China. Sci. China Life Sci., 60, 746-757.
-
(2017)
Sci. China Life Sci
, vol.60
, pp. 746-757
-
-
Fang, F.1
Liu, Z.2
Fang, H.3
Wu, J.4
Shen, D.5
Sun, S.6
Ding, C.7
Han, T.8
Wu, Y.9
Lv, J.10
-
53
-
-
85020527253
-
Analysis ofgenotypes and phenotypes in Chinese children with tuberous sclerosiscomplex
-
Bai, D., Zhao, J., Li, L., Gao, J., Wang, X. (2017) Analysis ofgenotypes and phenotypes in Chinese children with tuberous sclerosiscomplex. Sci. China Life Sci., 60, 763-771.
-
(2017)
Sci. China Life Sci
, vol.60
, pp. 763-771
-
-
Bai, D.1
Zhao, J.2
Li, L.3
Gao, J.4
Wang, X.5
-
54
-
-
85020499632
-
Detection of mycobacterial and viral DNA inKikuchi-Fujimoto disease: An analysis of 153 Chinese pediatric cases
-
Xu, Z., Liu, Y., Li, H., Meng, S., Boyd, A.S., Stratton, C.W., Ma, L. andTang, Y.W. (2017) Detection of mycobacterial and viral DNA inKikuchi-Fujimoto disease: An analysis of 153 Chinese pediatric cases.Sci. China Life Sci., 60, 775-777.
-
(2017)
Sci. China Life Sci
, vol.60
, pp. 775-777
-
-
Xu, Z.1
Liu, Y.2
Li, H.3
Meng, S.4
Boyd, A.S.5
Stratton, C.W.6
Ma, L.7
Tang, Y.W.8
-
55
-
-
85021177280
-
Gene mutations and clinical phenotypes in Chinesechildren with Blau syndrome
-
Li, C., Zhang, J., Li, S., Han, T., Kuang, W., Zhou, Y., Deng, J. andTan, X. (2017) Gene mutations and clinical phenotypes in Chinesechildren with Blau syndrome. Sci. China Life Sci., 60, 758-762.
-
(2017)
Sci. China Life Sci
, vol.60
, pp. 758-762
-
-
Li, C.1
Zhang, J.2
Li, S.3
Han, T.4
Kuang, W.5
Zhou, Y.6
Deng, J.7
Tan, X.8
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