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Andrew T Timberlake

Showing results (31-40 of 48) with videos related to

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American Journal of Human Genetics|April 22, 2023
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosisAndrew T Timberlake, Stephen McGee, Garrett Allington, et al.
Journal of Medical Genetics|January 13, 2021
Unexpected role of <i>SIX1</i> variants in craniosynostosis: expanding the phenotype of <i>SIX1</i>-related disordersEduardo Calpena, Maud Wurmser, Simon J McGowan, et al.
Human Genetics|August 23, 2022
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosisAndrew T Timberlake, Emre Kiziltug, Sheng Chih Jin, et al.
HGG Advances|September 11, 2024
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locusReza Maroofian, Alistair T Pagnamenta, Alireza Navabazam, et al.
Elife|September 9, 2016
Two locus inheritance of non-syndromic midline craniosynostosis via rare <i>SMAD6</i> and common <i>BMP2</i> allelesAndrew T Timberlake, Jungmin Choi, Samir Zaidi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2022
Damaging variants in FOXI3 cause microtia and craniofacial microsomiaDaniel Quiat, Andrew T Timberlake, Justin J Curran, et al.
Nature Communications|August 4, 2021
Haploinsufficiency of SF3B2 causes craniofacial microsomiaAndrew T Timberlake, Casey Griffin, Carrie L Heike, et al.
Nature Medicine|March 6, 2023
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cystsAdam J Kundishora, Garrett Allington, Stephen McGee, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|April 22, 2023
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosisAndrew T Timberlake, Stephen McGee, Garrett Allington, et al.
Journal of Medical Genetics|January 13, 2021
Unexpected role of <i>SIX1</i> variants in craniosynostosis: expanding the phenotype of <i>SIX1</i>-related disordersEduardo Calpena, Maud Wurmser, Simon J McGowan, et al.
Human Genetics|August 23, 2022
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosisAndrew T Timberlake, Emre Kiziltug, Sheng Chih Jin, et al.
HGG Advances|September 11, 2024
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locusReza Maroofian, Alistair T Pagnamenta, Alireza Navabazam, et al.
Elife|September 9, 2016
Two locus inheritance of non-syndromic midline craniosynostosis via rare <i>SMAD6</i> and common <i>BMP2</i> allelesAndrew T Timberlake, Jungmin Choi, Samir Zaidi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2022
Damaging variants in FOXI3 cause microtia and craniofacial microsomiaDaniel Quiat, Andrew T Timberlake, Justin J Curran, et al.
Nature Communications|August 4, 2021
Haploinsufficiency of SF3B2 causes craniofacial microsomiaAndrew T Timberlake, Casey Griffin, Carrie L Heike, et al.
Nature Medicine|March 6, 2023
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cystsAdam J Kundishora, Garrett Allington, Stephen McGee, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
Pageof 5