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Rehm, HL
17
results:
Search for persons
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Format
Online (17)
Mediatypes
Articles (Online) (1)
OpenAccess-fulltext (16)
Sorted by: Relevance
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?
1
A systematic approach to assessing the clinical significanc..:
Duzkale, H
;
Shen, J
;
McLaughlin, H
...
Clinical Genetics. 84 (2013) 5 - p. 453-463 , 2013
Link:
https://doi.org/10.1111/..
?
2
The Gene Curation Coalition: a global effort to harmonize g..:
DiStefano, MT
;
Goehringer, S
;
Babb, L
...
Genetics in Medicine. , 2022
Link:
http://hdl.handle.net/10..
?
3
The Gene Curation Coalition: A global effort to harmonize g..:
DiStefano, MT
;
Goehringer, S
;
Babb, L
...
issn:1098-3600. , 2022
Link:
http://hdl.handle.net/11..
?
4
REViewer: haplotype-resolved visualization of read alignmen..:
Dolzhenko, E
;
Weisburd, B
;
Ibanez, K
...
issn:1756-994X. , 2022
Link:
http://hdl.handle.net/11..
?
5
REViewer: haplotype-resolved visualization of read alignmen..:
Dolzhenko, E
;
Weisburd, B
;
Ibanez, K
...
GENOME MEDICINE. , 2022
Link:
https://qmro.qmul.ac.uk/..
?
6
A Framework for Automated Gene Selection in Genomic Applica..:
Lazo de la Vega, L
;
Yu, W
;
Machini, K
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8487927/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
7
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:
Chai, G
;
Webb, A
;
Li, C
...
https://eprints.whiterose.ac.uk/168429/1/Neuron_19_01905_R1.pdf. , 2021
Link:
https://eprints.whiteros..
?
8
GA4GH: International policies and standards for data sharin..:
Rehm, HL
;
Page, AJH
;
Smith, L
...
issn:2666-979X. , 2021
Link:
http://hdl.handle.net/11..
?
9
Diagnoses of uncertain significance: kidney genetics in the..:
Gale, D
;
Mallett, A
;
Patel, C
...
https://discovery.ucl.ac.uk/id/eprint/10094279/3/Bockenhauer_NRNEPH-19-290%20Bockenhauer.pdf. , 2020
Link:
https://discovery.ucl.ac..
?
10
Registered access: authorizing data access:
Dyke, SOM
;
Linden, M
;
Lappalainen, I
...
https://discovery.ucl.ac.uk/id/eprint/10055187/7/Beck%20VoR%20s41431-018-0219-y.pdf. , 2018
Link:
https://discovery.ucl.ac..
?
11
A protocol for whole-exome sequencing in newborns with cong..:
Downie, L
;
Halliday, JL
;
Burt, RA
...
issn:2399-9772. , 2017
Link:
http://hdl.handle.net/11..
?
12
The MedSeq Project: A randomized trial of integrating whole..:
Vassy, JL
;
Lautenbach, DM
;
McLaughlin, HM
...
Springer Science and Business Media LLC. , 2014
Link:
https://hdl.handle.net/2..
?
13
A systematic approach to assessing the clinical significanc..:
Duzkale, H
;
Shen, J
;
McLaughlin, H
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2013
Link:
http://www.ncbi.nlm.nih...
?
14
The Next Generation in Genetic Hearing Loss Testing:
Rehm, HL
;
Hernandez, AL
;
Kenna, MA
.
http://dx.doi.org/10.3205/11adano13. , 2011
Link:
https://doi.org/10.3205/..
?
15
Registered access: authorizing data access:
SOM Dyke
;
M Linden
;
I Lappalainen
...
2381/44805. , 2018
Link:
https://figshare.com/art..
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