E-LIB Suche - Ergebnisse für: Timberlake, Andrew T

1

Pathogenic variants in the paired-related homeobox 1 gene (..:

Tooze, Rebecca S. ; Miller, Kerry A. ; Swagemakers, Sigrid M.A....
Genetics in Medicine. 25 (2023) 9 - p. 100883 , 2023

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

2

Multiomic analyses implicate a neurodevelopmental program i..:

Kundishora, Adam J. ; Allington, Garrett ; McGee, Stephen...
Nature Medicine. 29 (2023) 3 - p. 667-678 , 2023

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

3

SMAD6 variants in nonsyndromic craniosynostosis:

Timberlake, Andrew T.
European Journal of Human Genetics. 31 (2023) 6 - p. 611-612 , 2023

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

4

1. Mutations in FOXI3 Cause Microtia and Craniofacial Micro..:

Timberlake, Andrew T. ; Quiat, Daniel ; Cunningham, Michael...
Plastic and Reconstructive Surgery - Global Open. 11 (2023) 5S - p. 1-1 , 2023

Link: https://doi.org/10.1097/..

5

Damaging variants in FOXI3 cause microtia and craniofacial ..:

Quiat, Daniel ; Timberlake, Andrew T. ; Curran, Justin J....
Genetics in Medicine. 25 (2023) 1 - p. 143-150 , 2023

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

6

De novo variants implicate chromatin modification, transcri..:

Timberlake, Andrew T. ; McGee, Stephen ; Allington, Garrett...
The American Journal of Human Genetics. 110 (2023) 5 - p. 846-862 , 2023

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

7

D29. Epidemiology of Oral Cleft and Craniosynostosis: Mater..:

Verzella, Alexandra N. ; Laspro, Matteo ; Brydges, Hilliard T....
Plastic and Reconstructive Surgery - Global Open. 11 (2023) 4S - p. 76-76 , 2023

Link: https://doi.org/10.1097/..

8

PC16. Mutations in FOXI3 Cause Microtia and Craniofacial Mi..:

Timberlake, Andrew T. ; Quiat, Daniel ; Cunningham, Michael L....
Plastic and Reconstructive Surgery - Global Open. 11 (2023) 4S - p. 37-38 , 2023

Link: https://doi.org/10.1097/..

9

Molecular genetics of human developmental neurocranial anom..:

Duy, Phan Q ; Timberlake, Andrew T ; Lifton, Richard P.
Cerebral Cortex. 33 (2022) 6 - p. 2912-2918 , 2022

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

10

De novo mutations in the BMP signaling pathway in lambdoid ..:

Timberlake, Andrew T. ; Kiziltug, Emre ; Jin, Sheng Chih...
Human Genetics. 142 (2022) 1 - p. 21-32 , 2022

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

11

Haploinsufficiency of SF3B2 causes craniofacial microsomia:

Timberlake, Andrew T. ; Griffin, Casey ; Heike, Carrie L....
Nature Communications. 12 (2021) 1 - p. , 2021

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

12

Unexpected role of SIX1 variants in craniosynostosis: expan..:

Calpena, Eduardo ; Wurmser, Maud ; McGowan, Simon J...
Journal of Medical Genetics. 59 (2021) 2 - p. 165-169 , 2021

Link: https://doi.org/10.1136/..

13

A genome-wide case-only test for the detection of digenic i..:

Kerner, Gaspard ; Bouaziz, Matthieu ; Cobat, Aurélie...
Proceedings of the National Academy of Sciences of the United States of America. 117 (2020) 32 - p. 19367-19375 , 2020

Link: https://www.jstor.org/st..

14

A genome-wide case-only test for the detection of digenic i..:

Kerner, Gaspard ; Bouaziz, Matthieu ; Cobat, Aurélie...
Proceedings of the National Academy of Sciences. 117 (2020) 32 - p. 19367-19375 , 2020

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

15

Mutations inTFAP2Band previously unimplicated genes of the ..:

Timberlake, Andrew T. ; Jin, Sheng Chih ; Nelson-Williams, Carol...
Proceedings of the National Academy of Sciences. 116 (2019) 30 - p. 15116-15121 , 2019

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