-
1
-
-
84907395628
-
Diagnostic clinical genome and exome sequencing
-
Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014;371:1170.
-
(2014)
N Engl J Med
, vol.371
, pp. 1170
-
-
Biesecker, L.G.1
Green, R.C.2
-
2
-
-
85031902086
-
Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting
-
Pengelly RJ, et al. Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting. Sci Rep. 2017;7:13509.
-
(2017)
Sci Rep
, vol.7
-
-
Pengelly, R.J.1
-
3
-
-
84954358609
-
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease
-
COI: 1:CAS:528:DC%2BD1cXhtlyjsrnI
-
Robinson PN, et al. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet. 2008;83:610–615.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 610-615
-
-
Robinson, P.N.1
-
4
-
-
84904008427
-
Diagnostically relevant facial gestalt information from ordinary photos
-
Ferry Q, et al. Diagnostically relevant facial gestalt information from ordinary photos. eLife. 2014;3:e02020.
-
(2014)
eLife
, vol.3
-
-
Ferry, Q.1
-
5
-
-
85059823357
-
DeepGestalt—identifying rare genetic syndromes using deep learning
-
COI: 1:CAS:528:DC%2BC1MXmvVOgsLk%3D
-
Gurovich Y, et al. DeepGestalt—identifying rare genetic syndromes using deep learning. Nat Med. 2019;25:60–64.
-
(2019)
Nat Med
, vol.25
, pp. 60-64
-
-
Gurovich, Y.1
-
6
-
-
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. 2015;17:405–424.
-
(2015)
Genet Med
, vol.17
, pp. 405-424
-
-
Richards, S.1
-
7
-
-
85049273706
-
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
-
Tavtigian SV, et al. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genet Med. 2018;20:1054–1060.
-
(2018)
Genet Med
, vol.20
, pp. 1054-1060
-
-
Tavtigian, S.V.1
-
8
-
-
70350474767
-
Clinical diagnostics in human genetics with semantic similarity searches in ontologies
-
Köhler S, et al. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet. 2009;85:457–464.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 457-464
-
-
Köhler, S.1
-
9
-
-
84867302795
-
Bayesian ontology querying for accurate and noise-tolerant semantic searches
-
COI: 1:CAS:528:DC%2BC38XhsVehtbbM
-
Bauer S, Köhler S, Schulz MH, Robinson PN. Bayesian ontology querying for accurate and noise-tolerant semantic searches. Bioinformatics. 2012;28:2502–2508.
-
(2012)
Bioinformatics
, vol.28
, pp. 2502-2508
-
-
Bauer, S.1
Köhler, S.2
Schulz, M.H.3
Robinson, P.N.4
-
10
-
-
85062886724
-
-
Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Universrity, Baltimore, MD
-
Online Mendelian Inheritance in Man (OMIM). Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Universrity (Baltimore, MD); 2019. https://omim.org/.
-
(2019)
Online Mendelian Inheritance in Man (OMIM
-
-
-
11
-
-
84943171338
-
A global reference for human genetic variation
-
The 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature. 2015;526:68.
-
(2015)
Nature
, vol.526
, pp. 68
-
-
-
12
-
-
84895858942
-
A general framework for estimating the relative pathogenicity of human genetic variants
-
COI: 1:CAS:528:DC%2BC2cXhs1Sjt7g%3D
-
Kircher M, et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46:310–315.
-
(2014)
Nat Genet
, vol.46
, pp. 310-315
-
-
Kircher, M.1
-
13
-
-
85055165997
-
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
-
Wright CF, et al. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. Genet Med. 2018;20:1216–1223.
-
(2018)
Genet Med
, vol.20
, pp. 1216-1223
-
-
Wright, C.F.1
-
14
-
-
85015375341
-
Prevalence and architecture of de novo mutations in developmental disorders
-
Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542:433–438.
-
(2017)
Nature
, vol.542
, pp. 433-438
-
-
-
15
-
-
85038408903
-
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
-
Dudding-Byth T, et al. Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability. BMC Biotechnol. 2017;17:90.
-
(2017)
BMC Biotechnol
, vol.17
-
-
Dudding-Byth, T.1
-
16
-
-
85045049615
-
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
-
Pantel JT, et al. Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. J Inherit Metab Dis. 2018;41:533–539.
-
(2018)
J Inherit Metab Dis
, vol.41
, pp. 533-539
-
-
Pantel, J.T.1
-
17
-
-
85040332959
-
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
-
Knaus A, et al. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Med. 2018;10:3.
-
(2018)
Genome Med
, vol.10
-
-
Knaus, A.1
-
18
-
-
84999028721
-
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection
-
COI: 1:CAS:528:DC%2BC28XitFensr3L
-
Badalato L, et al. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. Am J Med Genet A. 2017;173:183–189.
-
(2017)
Am J Med Genet A
, vol.173
, pp. 183-189
-
-
Badalato, L.1
-
19
-
-
85048525088
-
Big data phenotyping in rare diseases: some ethical issues
-
Hallowell DPH, et al. Big data phenotyping in rare diseases: some ethical issues. Genet Med. 2019;21:272–274.
-
(2019)
Genet Med
, vol.21
, pp. 272-274
-
-
Hallowell, D.P.H.1
-
20
-
-
85063253550
-
Are requirements to deposit data in research repositories compatible with the European Union’s General Data Protection Regulation?
-
Mascalzoni D, et al. Are requirements to deposit data in research repositories compatible with the European Union’s General Data Protection Regulation? Ann Intern Med. 2019;170:332–334.
-
(2019)
Ann Intern Med
, vol.170
, pp. 332-334
-
-
Mascalzoni, D.1
-
21
-
-
85063295213
-
Balancing protection and free movement of personal data: the new European Union General Data Protection Regulation
-
Bentzen HB, Høstmælingen N. Balancing protection and free movement of personal data: the new European Union General Data Protection Regulation. Ann Intern Med. 2019;170:335–337.
-
(2019)
Ann Intern Med
, vol.170
, pp. 335-337
-
-
Bentzen, H.B.1
Høstmælingen, N.2
-
22
-
-
84864360759
-
Next-generation sequencing demands next-generation phenotyping
-
COI: 1:CAS:528:DC%2BC38XlsFyisb0%3D
-
Hennekam R, Biesecker LG. Next-generation sequencing demands next-generation phenotyping. Hum Mutat. 2012;33:884–886.
-
(2012)
Hum Mutat
, vol.33
, pp. 884-886
-
-
Hennekam, R.1
Biesecker, L.G.2
|