E-LIB Suche - Ergebnisse für: Murdock, David R.

1

De novo missense variants in ZBTB47 are associated with dev..:

Ward, Scott K. ; Wadley, Alexandrea ; Tsai, Chun‐hui (Anne)...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 17-30 , 2023

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

2

An FBN1 deep intronic variant is associated with pseudoexon..:

Guo, Dong‐chuan ; Duan, Xueyan ; Mimnagh, Kathleen...
Clinical Genetics. 103 (2023) 6 - p. 704-708 , 2023

Link: https://doi.org/10.1111/..

3

Further delineation of the CWC27‐associated spliceosomeopat..:

Yassin, Shaden H. ; Henderson, Riley ; Lenberg, Jerica...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1378-1383 , 2023

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

4

Dominant negative variants in KIF5B cause osteogenesis impe..:

Marom, Ronit ; Zhang, Bo ; Washington, Megan E....
PLOS Genetics. 19 (2023) 11 - p. e1011005 , 2023

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

5

Best practices for the interpretation and reporting of clin..:

Austin-Tse, Christina A. ; Jobanputra, Vaidehi ; Perry, Denise L....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

6

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping,..:

Magyar, Christina L. ; Murdock, David R. ; Burrage, Lindsay C....
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1868-1874 , 2022

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

7

A novel, de novo intronic variant in POGZ causes White–Sutt..:

Merriweather, Ashanta ; Murdock, David R. ; Rosenfeld, Jill A....
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2198-2203 , 2022

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

8

Loss-of-function variants in MYCBP2 cause neurobehavioural ..:

AlAbdi, Lama ; Desbois, Muriel ; Rusnac, Domniţa-Valeria...
Brain. 146 (2022) 4 - p. 1373-1387 , 2022

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

9

Long read sequencing and expression studies ofAHDC1deletion..:

Chander, Varuna ; Mahmoud, Medhat ; Hu, Jianhong...
Human Mutation. 43 (2022) 12 - p. 2033-2053 , 2022

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

10

A recurrent single‐exon deletion inTBCKmight be under‐recog..:

Dai, Hongzheng ; Zhu, Wenmiao ; Yuan, Bo...
Human Mutation. 43 (2022) 12 - p. 1816-1823 , 2022

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

11

Genetic testing in ambulatory cardiology clinics reveals hi..:

Murdock, David R. ; Venner, Eric ; Muzny, Donna M....
Genetics in Medicine. 23 (2021) 12 - p. 2404-2414 , 2021

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

12

Exome sequencing in children with clinically suspectedmatur..:

Tosur, Mustafa ; Soler‐Alfonso, Claudia ; Chan, Katie M....
Pediatric Diabetes. 22 (2021) 7 - p. 960-968 , 2021

Link: https://doi.org/10.1111/..

13

Commonalities across computational workflows for uncovering..:

Kobren, Shilpa Nadimpalli ; Baldridge, Dustin ; Velinder, Matt...
Genetics in Medicine. 23 (2021) 6 - p. 1075-1085 , 2021

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

14

Phenotypic and protein localization heterogeneity associate..:

Khayat, Michael M. ; Li, He ; Chander, Varuna...
Human Mutation. 42 (2021) 5 - p. 577-591 , 2021

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

15

Correction: Dominant-negative mutations in human IL6ST unde..:

Béziat, Vivien ; Tavernier, Simon J. ; Chen, Yin-Huai...
Journal of Experimental Medicine. 217 (2020) 7 - p. , 2020

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