E-LIB Suche - Ergebnisse für: Neil, Jennifer E

1

Exome copy number variant detection, analysis, and classifi..:

Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn...
The American Journal of Human Genetics. 111 (2024) 5 - p. 863-876 , 2024

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

2

TMEM161B regulates cerebral cortical gyration, Sonic Hedgeh..:

Akula, Shyam K. ; Marciano, Jack H. ; Lim, Youngshin...
Proceedings of the National Academy of Sciences. 120 (2023) 4 - p. , 2023

Link: https://doi.org/10.1073/..

3

Bi-allelic variants in INTS11 are associated with a complex..:

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello...
The American Journal of Human Genetics. 110 (2023) 5 - p. 774-789 , 2023

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

4

Missense MED12 variants in 22 males with intellectual disab..:

Maia, Nuno ; Ibarluzea, Nekane ; Misra‐Isrie, Mala...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 135-143 , 2022

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

5

Somatic genomic changes in single Alzheimer's disease neuro..:

Miller, Michael B. ; Huang, August Yue ; Kim, Junho...
Nature. 604 (2022) 7907 - p. 714-722 , 2022

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

6

Variants in ADD1 cause intellectual disability, corpus call..:

Qi, Cai ; Feng, Irena ; Costa, Ana Rita...
Genetics in Medicine. 24 (2022) 2 - p. 319-331 , 2022

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

7

ANKLE2‐related microcephaly: A variable microcephaly syndro..:

Thomas, Ajay X. ; Link, Nichole ; Robak, Laurie A....
Annals of Clinical and Translational Neurology. 9 (2022) 8 - p. 1276-1288 , 2022

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

8

Biallelic loss-of-function variants in WDR11 are associated..:

Haag, Natja ; Tan, Ene-Choo ; Begemann, Matthias...
European Journal of Human Genetics. 29 (2021) 11 - p. 1663-1668 , 2021

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

9

Early role for a Na+,K+-ATPase (ATP1A3) in brain developmen:

Smith, Richard S. ; Florio, Marta ; Akula, Shyam K....
Proceedings of the National Academy of Sciences. 118 (2021) 25 - p. , 2021

Link: https://doi.org/10.1073/..

10

A recurrent, homozygous EMC10 frameshift variant is associa..:

Shao, Diane D. ; Straussberg, Rachel ; Ahmed, Hind...
Genetics in Medicine. 23 (2021) 6 - p. 1158-1162 , 2021

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

11

Exome Sequencing and the Identification of New Genes and Sh..:

Akula, Shyam K ; Chen, Allen Y ; Neil, Jennifer E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366952/. , 2023

Link: http://www.ncbi.nlm.nih...

12

TMEM161B regulates cerebral cortical gyration, Sonic Hedgeh..:

Akula, Shyam K ; Marciano, Jack H ; Lim, Youngshin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9942790/. , 2023

Link: http://www.ncbi.nlm.nih...

13

Exome copy number variant detection, analysis and classific..:

Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593084/. , 2023

Link: http://www.ncbi.nlm.nih...

14

Variants in ADD1 cause intellectual disability, corpus call..:

Qi, Cai ; Feng, Irena ; Costa, Ana Rita...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802223/. , 2022

Link: http://www.ncbi.nlm.nih...

15

Somatic genomic changes in single Alzheimer's disease neuro..:

Miller, Michael B ; Yue Huang, August ; Kim, Junho...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9357465/. , 2022

Link: http://www.ncbi.nlm.nih...