E-LIB Suche - Ergebnisse für: Lowther, Chelsea

1

P576: Recalibration of scoring metrics to assess the pathog..:

Spector, Emily ; Andersen, Erica ; Herriges, John...
Genetics in Medicine Open. 2 (2024) - p. 101482 , 2024

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

2

Points to consider in the detection of germline structural ..:

Raca, Gordana ; Astbury, Caroline ; Behlmann, Andrea...
Genetics in Medicine. 25 (2023) 2 - p. 100316 , 2023

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

3

Systematic evaluation of genome sequencing for the diagnost..:

Lowther, Chelsea ; Valkanas, Elise ; Giordano, Jessica L....
The American Journal of Human Genetics. 110 (2023) 9 - p. 1454-1469 , 2023

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

4

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/..

5

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/..

6

Author Correction: A structural variation reference for med..:

Genome Aggregation Database Production Team ; Collins, Ryan L. ; Brand, Harrison...
Nature. 590 (2021) 7846 - p. E55-E55 , 2021

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

7

A structural variation reference for medical and population..:

Collins, Ryan L. ; Brand, Harrison ; Karczewski, Konrad J....
Nature. 581 (2020) 7809 - p. 444-451 , 2020

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

8

Haploinsufficiency of vascular endothelial growth factor re..:

Reuter, Miriam S. ; Jobling, Rebekah ; Chaturvedi, Rajiv R....
Genetics in Medicine. 21 (2019) 4 - p. 1001-1007 , 2019

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

9

Molecular characterization of NRXN1 deletions from 19,263 c..:

Lowther, Chelsea ; Speevak, Marsha ; Armour, Christine M....
Genetics in Medicine. 19 (2017) 1 - p. 53-61 , 2017

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

10

Impact of IQ on the diagnostic yield of chromosomal microar..:

Lowther, Chelsea ; Merico, Daniele ; Costain, Gregory...
Genome Medicine. 9 (2017) 1 - p. , 2017

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

11

Genomic Disorders in Psychiatry—What Does the Clinician Nee..:

Lowther, Chelsea ; Costain, Gregory ; Baribeau, Danielle A..
Current Psychiatry Reports. 19 (2017) 11 - p. , 2017

Link: https://doi.org/10.1007/..

12

De novo large rare copy-number variations contribute to con..:

Mak, Christopher C Y ; Chow, Pak Cheong ; Liu, Anthony P Y...
npj Genomic Medicine. 1 (2016) 1 - p. , 2016

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

13

Parental Origin of Interstitial Duplications at 15q11.2-q13..:

Isles, Anthony R. ; Ingason, Andrés ; Lowther, Chelsea...
PLOS Genetics. 12 (2016) 5 - p. e1005993 , 2016

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

14

Deletion of 15q11.2(BP1‐BP2) region: Further evidence for l..:

Hashemi, Bita ; Bassett, Anne ; Chitayat, David...
American Journal of Medical Genetics Part A. 167 (2015) 9 - p. 2098-2102 , 2015

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

15

Delineating the 15q13.3 microdeletion phenotype: a case ser..:

Lowther, Chelsea ; Costain, Gregory ; Stavropoulos, Dimitri J....
Genetics in Medicine. 17 (2015) 2 - p. 149-157 , 2015

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