E-LIB Suche - Ergebnisse für: Scott, Daryl A

1

Exome sequencing implicates ancestry-related Mendelian vari..:

Copeland, Ian ; Wonkam-Tingang, Edmond ; Gupta-Malhotra, Monesha...
JCI Insight. 9 (2024) 9 - p. , 2024

2

High Clinical Exome Sequencing Diagnostic Rates and Novel P..:

Kunisetty, Bhavana ; Martin-Giacalone, Bailey A. ; Zhao, Xiaonan...
Investigative Opthalmology & Visual Science. 65 (2024) 3 - p. 25 , 2024

Link: https://doi.org/10.1167/..

3

P050: Biallelic variants in POLG2 provides a rare molecular..:

Rossi, Vittoria ; Brooks, Dan ; Dai, Hongzheng...
Genetics in Medicine Open. 2 (2024) - p. 100927 , 2024

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

4

Early initiation of B‐vitamin supplementation may reduce sy..:

Miyake, Christina Y. ; Ehsan, Saad A. ; Zhang, Lilei...
American Journal of Medical Genetics Part A. , 2023

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

5

Dominant Negative Variants in IKZF2 Cause ICHAD Syndrome, a..:

Vaseghi-Shanjani, Maryam ; Mohajeri, Arezoo ; Rosenfeld, Jill A....
Clinical Immunology. 250 (2023) - p. 109546 , 2023

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

6

Integrative analysis of transcriptome dynamics during human..:

Yankee, Tara N. ; Oh, Sungryong ; Winchester, Emma Wentworth...
Nature Communications. 14 (2023) 1 - p. , 2023

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

7

SOX7 deficiency causes ventricular septal defects through i..:

Hernández-García, Andrés ; Pendleton, Katherine E ; Kim, Sangbae...
Human Molecular Genetics. 32 (2023) 13 - p. 2152-2161 , 2023

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

8

Monoallelic loss-of-function BMP2 variants result in BMP2-r..:

Priestley, Jessica R.C. ; Deshwar, Ashish R. ; Murthy, Harsha...
Genetics in Medicine. 25 (2023) 8 - p. 100863 , 2023

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

9

Neurodevelopmental and other phenotypes recurrently associa..:

Sewani, Soha ; Azamian, Mahshid S. ; Mendelsohn, Bryce A....
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

10

Sox7‐positive endothelial progenitors establish coronary ar..:

Chiang, Ivy KN ; Humphrey, David ; Mills, Richard J...
EMBO reports. 24 (2023) 10 - p. , 2023

Link: https://doi.org/10.15252..

11

High molecular diagnostic yields and novel phenotypic expan..:

Belanger Deloge, Raymond ; Zhao, Xiaonan ; Luna, Pamela N....
European Journal of Human Genetics. 31 (2022) 3 - p. 296-303 , 2022

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

12

Patterns of co‐occurring birth defects in children with ano..:

Schraw, Jeremy M. ; Benjamin, Renata H. ; Shumate, Charles J....
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 805-812 , 2022

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

13

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/..

14

Underlying genetic etiologies of congenital diaphragmatic h..:

Scott, Daryl A. ; Gofin, Yoel ; Berry, Aliska M..
Prenatal Diagnosis. 42 (2022) 3 - p. 373-386 , 2022

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

15

Retrospective analysis of a clinical exome sequencing cohor..:

Chen, Chun-An ; Lattier, John ; Zhu, Wenmiao...
Genetics in Medicine. 24 (2022) 2 - p. 364-373 , 2022

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