Andrew T Timberlake

12PUBLICATIONS
164CO-AUTHORS
Neurology and neuromuscular diseasesCentral nervous systemGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Infant and child health
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Publications (12)

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|Mar 06, 2023
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.

Adam J Kundishora, Garrett Allington, Stephen McGee

|Feb 16, 2023
SMAD6 variants in nonsyndromic craniosynostosis.

Andrew T Timberlake

|Aug 23, 2022
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.

Andrew T Timberlake, Emre Kiziltug, Sheng Chih Jin

|Apr 05, 2022
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.

Phan Q Duy, Stefan C Weise, Claudia Marini

|Aug 04, 2021
Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Andrew T Timberlake, Casey Griffin, Carrie L Heike

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Frequent Collaborators

3 joint publications

Shozeb Haider

3 joint publications

Seth L Alper

3 joint publications

Kristopher T Kahle

3 joint publications

Weilai Dong