E-LIB Suche - Ergebnisse für: Boone, Philip M.

1

Beyond the exome: What's next in diagnostic testing for Men..:

Wojcik, Monica H. ; Reuter, Chloe M. ; Marwaha, Shruti...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1229-1248 , 2023

Link: https://doi.org/10.1016/..

2

A cross-disorder dosage sensitivity map of the human genome:

Collins, Ryan L. ; Glessner, Joseph T. ; Porcu, Eleonora...
Cell. 185 (2022) 16 - p. 3041-3055.e25 , 2022

Link: https://doi.org/10.1016/..

3

Transcriptional and functional consequences of alterations ..:

Mohajeri, Kiana ; Yadav, Rachita ; D'haene, Eva...
The American Journal of Human Genetics. 109 (2022) 11 - p. 2049-2067 , 2022

Link: https://doi.org/10.1016/..

4

Further delineation of the clinical spectrum of KAT6B disor..:

Zhang, Li Xin ; Lemire, Gabrielle ; Gonzaga-Jauregui, Claudia...
Genetics in Medicine. 22 (2020) 8 - p. 1338-1347 , 2020

Link: https://doi.org/10.1038/..

5

Free, online videos for distance learning in medical geneti..:

Maggipinto, Sarah ; Chen, Angela ; Huynh, Dustin...
European Journal of Medical Genetics. 63 (2020) 9 - p. 103983 , 2020

Link: https://doi.org/10.1016/..

6

Genetic architecture of laterality defects revealed by whol..:

Li, Alexander H. ; Hanchard, Neil A. ; Azamian, Mahshid...
European Journal of Human Genetics. 27 (2019) 4 - p. 563-573 , 2019

Link: https://doi.org/10.1038/..

7

Biallelic mutation ofFBXL7suggests a novel form of Hennekam..:

Boone, Philip M. ; Paterson, Scott ; Mohajeri, Kiana...
American Journal of Medical Genetics Part A. 182 (2019) 1 - p. 189-194 , 2019

Link: https://doi.org/10.1002/..

8

Primary immunodeficiency diseases: Genomic approaches delin..:

Stray-Pedersen, Asbjørg ; Sorte, Hanne Sørmo ; Samarakoon, Pubudu...
Journal of Allergy and Clinical Immunology. 139 (2017) 1 - p. 232-245 , 2017

Link: https://doi.org/10.1016/..

9

A visual and curatorial approach to clinical variant priori..:

James, Regis A. ; Campbell, Ian M. ; Chen, Edward S....
Genome Medicine. 8 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

10

Homozygous and hemizygous CNV detection from exome sequenci..:

Gambin, Tomasz ; Akdemir, Zeynep C. ; Yuan, Bo...
Nucleic Acids Research. , 2016

Link: https://doi.org/10.1093/..

11

Increased bone turnover, osteoporosis, progressive tibial b..:

Boone, Philip M. ; Chan, Yiu Man ; Hunter, Jill V....
American Journal of Medical Genetics Part A. 170 (2016) 11 - p. 3028-3032 , 2016

Link: https://doi.org/10.1002/..

12

Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, ..:

Boone, Philip M. ; Yuan, Bo ; Gu, Shen...
Molecular Genetics & Genomic Medicine. 4 (2015) 1 - p. 77-94 , 2015

Link: https://doi.org/10.1002/..

13

Exonic duplication CNV of NDRG1 associated with autosomal-r..:

Okamoto, Yuji ; Goksungur, Meryem Tuba ; Pehlivan, Davut...
Genetics in Medicine. 16 (2014) 5 - p. 386-394 , 2014

Link: https://doi.org/10.1038/..

14

Platform comparison of detecting copy number variants with ..:

de Ligt, Joep ; Boone, Philip M. ; Pfundt, Rolph...
Genomics Data. 2 (2014) - p. 144-146 , 2014

Link: https://doi.org/10.1016/..

15

Analysis of the ABCA4 genomic locus in Stargardt disease:

Zernant, Jana ; Xie, Yajing (Angela) ; Ayuso, Carmen...
Human Molecular Genetics. 23 (2014) 25 - p. 6797-6806 , 2014

Link: https://doi.org/10.1093/..