E-LIB Suche - Ergebnisse für: Rosenfeld, Jill A

1

Homozygous missense variants in YKT6 result in loss of func..:

Ma, Mengqi ; Ganapathi, Mythily ; Zheng, Yiming...
Genetics in Medicine. 26 (2024) 7 - p. 101125 , 2024

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

2

Variants in the WDR44 WD40-repeat domain cause a spectrum o..:

Accogli, Andrea ; Shakya, Saurabh ; Yang, Taewoo...
Nature Communications. 15 (2024) 1 - p. , 2024

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

3

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics. 111 (2024) 4 - p. 805 , 2024

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

4

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics. 111 (2024) 1 - p. 96-118 , 2024

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

5

The clinical utility and diagnostic implementation of human..:

Li, Shenglan ; Zhao, Sen ; Sinson, Jefferson C....
The American Journal of Human Genetics. 111 (2024) 5 - p. 841-862 , 2024

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

6

De novo variants in DENND5B cause a neurodevelopmental diso..:

Scala, Marcello ; Tomati, Valeria ; Ferla, Matteo...
The American Journal of Human Genetics. 111 (2024) 3 - p. 529-543 , 2024

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

7

P750: Clinical validation of transcriptome analysis for the..:

Macakova, Kristina ; Sinson, Jefferson ; Zhao, Sen...
Genetics in Medicine Open. 2 (2024) - p. 101654 , 2024

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

8

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1239 , 2024

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

9

Heterozygous MAP3K20 variants cause ectodermal dysplasia, c..:

Brooks, Daniel ; Burke, Elizabeth ; Lee, Sukyeong...
Human Genetics. 143 (2024) 3 - p. 279-291 , 2024

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

10

P173: Precision animal modeling and VUS-resolution in a nov..:

Burrage, Lindsay ; Lanza, Denise ; Marcogliese, Paul...
Genetics in Medicine Open. 2 (2024) - p. 101070 , 2024

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

11

Clinical exome sequencing uncovers genetic disorders in neo..:

Parobek, Christian M. ; Zemet, Roni ; Shanahan, Matthew A....
Clinical Genetics. 106 (2024) 1 - p. 95-101 , 2024

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

12

692 Genetic findings among neonates with perinatal hypoxic-..:

Parobek, Christian M. ; Shanahan, Matthew A. ; Lazar, Roni Zemet...
American Journal of Obstetrics and Gynecology. 230 (2024) 1 - p. S371 , 2024

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

13

Exome sequencing implicates ancestry-related Mendelian vari..:

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

Link: https://doi.org/10.1172/..

14

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/..

15

Novel protein-truncating variants of a chromatin-modifying ..:

Lu, Xiaona ; Ng, Kim ; Pinto e Vairo, Filippo...
European Journal of Human Genetics. , 2024

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