E-LIB Suche - Ergebnisse für: Richmond, Phillip A.

1

Naturally occurring splice variants dissect the functional ..:

Hejla, Duha ; Huynh, Stephanie ; Samra, Simran...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

2

210 A multimorphic variant in ThPOK causes a novel human di..:

Vaseghi-Shanjani, Maryam ; Sharma, Mehul ; Yousefi, Pariya...
Clinical Immunology. 262 (2024) - p. 110152 , 2024

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

3

Human germline heterozygous gain-of-functionSTAT6variants c..:

Sharma, Mehul ; Leung, Daniel ; Momenilandi, Mana...
Journal of Experimental Medicine. 220 (2023) 5 - p. , 2023

Link: https://doi.org/10.1084/..

4

Generation of tandem alternative splice acceptor sites and ..:

Sage, Adam P. ; Lee, Hyun Kyung ; Dalmann, Joshua...
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2219-2224 , 2023

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

5

Can tandem alternative splicing and evasion of premature te..:

Gazzaz, Nour ; Frost, F. Graeme ; Alderman, Emily...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3089-3095 , 2022

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

6

REViewer: haplotype-resolved visualization of read alignmen..:

Dolzhenko, Egor ; Weisburd, Ben ; Ibañez, Kristina...
Genome Medicine. 14 (2022) 1 - p. , 2022

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

7

Adult GAMT deficiency: A literature review and report of tw..:

Modi, Bhavi P. ; Khan, Haq Nawaz ; van der Lee, Robin...
Molecular Genetics and Metabolism Reports. 27 (2021) - p. 100761 , 2021

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

8

Exome sequencing enables diagnosis of X-linked hypohidrotic..:

Modi, Bhavi P. ; Del Bel, Kate L. ; Lin, Susan...
Allergy, Asthma & Clinical Immunology. 17 (2021) 1 - p. , 2021

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

9

GeneBreaker: Variant simulation to improve the diagnosis of..:

Richmond, Phillip A. ; Av‐Shalom, Tamar V. ; Fornes, Oriol...
Human Mutation. 42 (2021) 4 - p. 346-358 , 2021

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

10

ExpansionHunter Denovo: a computational method for locating..:

Dolzhenko, Egor ; Bennett, Mark F. ; Richmond, Phillip A....
Genome Biology. 21 (2020) 1 - p. , 2020

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

11

Linkage analysis identifies an isolated strabismus locus at..:

Ye, Xin (Cynthia) ; Roslin, Nicole M ; Paterson, Andrew D...
Journal of Medical Genetics. 59 (2020) 1 - p. 46-55 , 2020

Link: https://doi.org/10.1136/..

12

metPropagate: network-guided propagation of metabolomic inf..:

Graham Linck, Emma J. ; Richmond, Phillip A. ; Tarailo-Graovac, Maja...
npj Genomic Medicine. 5 (2020) 1 - p. , 2020

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

13

The variability conundrum in neurometabolic degenerative di..:

van Karnebeek, Clara D.M. ; Richmond, Phillip A. ; van der Kloet, Frans...
Molecular Genetics and Metabolism. 131 (2020) 4 - p. 367-369 , 2020

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

14

Systems genetics analysis of the LXS recombinant inbred mou..:

Radcliffe, Richard A. ; Dowell, Robin ; Odell, Aaron T....
PLOS ONE. 15 (2020) 10 - p. e0240253 , 2020

Link: https://doi.org/10.1371/..

15

Multi-Omic Approach to Identify Phenotypic Modifiers Underl..:

Richmond, Phillip A. ; van der Kloet, Frans ; Vaz, Frederic M....
Frontiers in Cell and Developmental Biology. 8 (2020) - p. , 2020

Link: https://doi.org/10.3389/..