E-LIB Suche - Ergebnisse für: Miller, Danny E

1

Combined approaches, including long-read sequencing, addres..:

Fleming, Andrew ; Galey, Miranda ; Briggs, Lizi...
European Journal of Human Genetics. , 2024

2

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 4 - p. 778-790 , 2024

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

3

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1240 , 2024

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

4

3-hour genome sequencing and targeted analysis to rapidly a..:

Zalusky, Miranda P.G. ; Gustafson, Jonas A. ; Bohaczuk, Stephanie C....
Genetics in Medicine Open. 2 (2024) - p. 101833 , 2024

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

5

CLN2 disease resulting from a novel homozygous deep introni..:

Steigerwald, Connolly ; Borsuk, Jill ; Pappas, John...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108049 , 2024

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

6

A distant global control region is essential for normal exp..:

Wilderman, Andrea ; D'haene, Eva ; Baetens, Machteld...
Nature Communications. 15 (2024) 1 - p. , 2024

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

7

Long-Read DNA and RNA Sequencing to Streamline Clinical Gen..:

Damaraju, Nikhita ; Miller, Angela L ; Miller, Danny E
The Journal of Applied Laboratory Medicine. 9 (2024) 1 - p. 138-150 , 2024

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

8

Off-target piRNA gene silencing in Drosophila melanogaster ..:

Miller, Danny E. ; Dorador, Ana P. ; Van Vaerenberghe, Kelley...
PLOS Genetics. 19 (2023) 2 - p. e1010598 , 2023

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

9

Heterozygous inversion breakpoints suppress meiotic crossov..:

Li, Haosheng ; Berent, Erica ; Hadjipanteli, Savannah...
PLOS Genetics. 19 (2023) 4 - p. e1010702 , 2023

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

10

Subdural hemorrhage, macrocephaly, rash, and developmental ..:

Koti, Ajay S. ; Lanis, Aviya ; Finlayson, Samuel...
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2825-2830 , 2023

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

11

Congenital pleuropulmonary blastoma in a newborn with a var..:

Lyle, Allison N. J. ; Ohlsen, Timothy J. D. ; Miller, Danny E....
Maternal Health, Neonatology and Perinatology. 9 (2023) 1 - p. , 2023

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

12

Genome Report: chromosome-scale genome assembly of the Afri..:

Nguyen, Elizabeth Dong ; Fard, Vahid Nikoonejad ; Kim, Bernard Y...
G3: Genes, Genomes, Genetics. , 2023

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

13

Correction to: Congenital pleuropulmonary blastoma in a new..:

Lyle, Allison N. J. ; Ohlsen, Timothy J. D. ; Miller, Danny E....
Maternal Health, Neonatology and Perinatology. 9 (2023) 1 - p. , 2023

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

14

Panels, Exomes, Genomes, and More—Finding the Best Path Thr..:

Lenahan, Arthur L. ; Squire, Audrey E. ; Miller, Danny E.
Pediatric Clinics of North America. 70 (2023) 5 - p. 905-916 , 2023

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

15

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/..