Andrew T Timberlake

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 16

Top Venues

Nature medicine

Proceedings of the National Academy of Sciences of the United States of America

Human genetics

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Tzung-Chien Hsieh, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel, Sophie Möller, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Ingrid Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill Anne Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, C M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay Swanson, Carrie Costin, Rebekah K Jobling, John G Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, May Christine V Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen Muraresku, Davit Babikyan, Zdenek Sedlacek, Miroslava Hancarova, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Genevieve, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Hussain Sabir, Derek Lim, Mark Hamilton, Lisa Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna Maria Cueto-González, Eduardo Fidel Tizzano, David Gomez Andres, Marta Codina Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Amélie Bosc-Rosati, Julien Marcoux, Marie-Pierre Bousquet, Jeremie Poschmann, Frederic Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Arnaud Droit, Ype Elgersma, Andreas Martin Grabrucker, Francois V Bolduc, Stephane Bezieau, Frédéric Ebstein, Elke Krüger
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv : the preprint server for health sciences (2024)
Adam J Kundishora, Garrett Allington, Stephen McGee, Kedous Y Mekbib, Vladimir Gainullin, Andrew T Timberlake, Carol Nelson-Williams, Emre Kiziltug, Hannah Smith, Jack Ocken, John Shohfi, August Allocco, Phan Q Duy, Aladine A Elsamadicy, Weilai Dong, Shujuan Zhao, Yung-Chun Wang, Hanya M Qureshi, Michael L DiLuna, Shrikant Mane, Irina R Tikhonova, Po-Ying Fu, Christopher Castaldi, Francesc Lopez, James R Knight, Charuta G Furey, Bob S Carter, Shozeb M Haider, Andrés Moreno De Luca, Seth L Alper, Murat Günel, Francisca Millan, Richard P Lifton, Rebecca I Torene, Sheng Chih Jin, Kristopher T Kahle
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature medicine (2023)
Adam J Kundishora, Garrett Allington, Stephen McGee, Kedous Y Mekbib, Vladimir Gainullin, Andrew T Timberlake, Carol Nelson-Williams, Emre Kiziltug, Hannah Smith, Jack Ocken, John Shohfi, August Allocco, Phan Q Duy, Aladine A Elsamadicy, Weilai Dong, Shujuan Zhao, Yung-Chun Wang, Hanya M Qureshi, Michael L DiLuna, Shrikant Mane, Irina R Tikhonova, Po-Ying Fu, Christopher Castaldi, Francesc Lopez, James R Knight, Charuta G Furey, Bob S Carter, Shozeb M Haider, Andrés Moreno De Luca, Seth L Alper, Murat Günel, Francisca Millan, Richard P Lifton, Rebecca I Torene, Sheng Chih Jin, Kristopher T Kahle
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature medicine (2023)
Adam J Kundishora, Garrett Allington, Stephen McGee, Kedous Y Mekbib, Vladimir Gainullin, Andrew T Timberlake, Carol Nelson-Williams, Emre Kiziltug, Hannah Smith, Jack Ocken, John Shohfi, August Allocco, Phan Q Duy, Aladine A Elsamadicy, Weilai Dong, Shujuan Zhao, Yung-Chun Wang, Hanya M Qureshi, Michael L DiLuna, Shrikant Mane, Irina R Tikhonova, Po-Ying Fu, Christopher Castaldi, Francesc Lopez, James R Knight, Charuta G Furey, Bob S Carter, Shozeb M Haider, Andrés Moreno De Luca, Seth L Alper, Murat Günel, Francisca Millan, Richard P Lifton, Rebecca I Torene, Sheng Chih Jin, Kristopher T Kahle
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature medicine (2023)
Adam J Kundishora, Garrett Allington, Stephen McGee, Kedous Y Mekbib, Vladimir Gainullin, Andrew T Timberlake, Carol Nelson-Williams, Emre Kiziltug, Hannah Smith, Jack Ocken, John Shohfi, August Allocco, Phan Q Duy, Aladine A Elsamadicy, Weilai Dong, Shujuan Zhao, Yung-Chun Wang, Hanya M Qureshi, Michael L DiLuna, Shrikant Mane, Irina R Tikhonova, Po-Ying Fu, Christopher Castaldi, Francesc Lopez, James R Knight, Charuta G Furey, Bob S Carter, Shozeb M Haider, Andrés Moreno De Luca, Seth L Alper, Murat Günel, Francisca Millan, Richard P Lifton, Rebecca I Torene, Sheng Chih Jin, Kristopher T Kahle
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature medicine 29 (3) (2023)
Andrew T Timberlake
SMAD6 variants in nonsyndromic craniosynostosis. European journal of human genetics : EJHG (2023)
Adam J Kundishora, Garrett Allington, Stephen McGee, Kedous Y Mekbib, Vladimir Gainullin, Andrew T Timberlake, Carol Nelson-Williams, Emre Kiziltug, Hannah Smith, Jack Ocken, John Shohfi, August Allocco, Phan Q Duy, Aladine A Elsamadicy, Weilai Dong, Shujuan Zhao, Yung-Chun Wang, Hanya M Qureshi, Michael L DiLuna, Shrikant Mane, Irina R Tikhonova, Po-Ying Fu, Christopher Castaldi, Francesc Lopez, James R Knight, Charuta G Furey, Bob S Carter, Shozeb M Haider, Andrés Moreno De Luca, Seth L Alper, Murat Günel, Francisca Millan, Richard P Lifton, Rebecca I Torene, Sheng Chih Jin, Kristopher T Kahle
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature medicine 29 (3) (2023)
Phan Q Duy, Stefan C Weise, Claudia Marini, Xiao-Jun Li, Dan Liang, Peter J Dahl, Shaojie Ma, Ana Spajic, Weilai Dong, Jane Juusola, Emre Kiziltug, Adam J Kundishora, Sunil Koundal, Maysam Z Pedram, Lucia A Torres-Fernández, Kristian Händler, Elena De Domenico, Matthias Becker, Thomas Ulas, Stefan A Juranek, Elisa Cuevas, Le Thi Hao, Bettina Jux, André M M Sousa, Fuchen Liu, Suel-Kee Kim, Mingfeng Li, Yiying Yang, Yutaka Takeo, Alvaro Duque, Carol Nelson-Williams, Yonghyun Ha, Kartiga Selvaganesan, Stephanie M Robert, Amrita K Singh, Garrett Allington, Charuta G Furey, Andrew T Timberlake, Benjamin C Reeves, Hannah Smith, Ashley Dunbar, Tyrone DeSpenza, June Goto, Arnaud Marlier, Andrés Moreno De Luca, Xin Yu, William E Butler, Bob S Carter, Evelyn M R Lake, R xsTodd Constable, Pasko Rakic, Haifan Lin, Engin Deniz, Helene Benveniste, Nikhil S Malvankar, Juvianee I Estrada-Veras, Christopher A Walsh, Seth L Alper, Joachim L Schultze, Katrin Paeschke, Angelika Doetzlhofer, F Gregory Wulczyn, Sheng Chih Jin, Richard P Lifton, Nenad Sestan, Waldemar Kolanus, Kristopher T Kahle
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nature neuroscience 25 (4) (2022)
Andrew T Timberlake, Emre Kiziltug, Sheng Chih Jin, Carol Nelson-Williams, Erin Loring, null null, August Allocco, Arnaud Marlier, Siddharth Banka, Helen Stuart, Maria Rita Passos-Buenos, Rafael Rosa, Silvia R Rogatto, Elin Tonne, Amy L Stiegler, Titus J Boggon, Michael Alperovich, Derek Steinbacher, David A Staffenberg, Roberto L Flores, John A Persing, Kristopher T Kahle, Richard P Lifton
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis. Human genetics (2022)
Andrew T Timberlake, Casey Griffin, Carrie L Heike, Anne V Hing, Michael L Cunningham, David Chitayat, Mark R Davis, Soghra J Doust, Amelia F Drake, Milagros M Dueñas-Roque, Jack Goldblatt, Jonas A Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G Laing, Leanne Magee, null null, Sureni V Mullegama, Harry Pachajoa, Gloria L Porras-Hurtado, Rhonda E Schnur, Jennie Slee, Steven L Singer, David A Staffenberg, Andrew E Timms, Cheryl A Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V Luquetti
Haploinsufficiency of SF3B2 causes craniofacial microsomia. Nature communications 12 (1) (2021)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Gaspard Kerner, Matthieu Bouaziz, Aurélie Cobat, Benedetta Bigio, Andrew T Timberlake, Jacinta Bustamante, Richard P Lifton, Jean-Laurent Casanova, Laurent Abel
A genome-wide case-only test for the detection of digenic inheritance in human exomes. Proceedings of the National Academy of Sciences of the United States of America 117 (32) (2020)
Sheng Chih Jin, Weilai Dong, Adam J Kundishora, Shreyas Panchagnula, Andrés Moreno De Luca, Charuta G Furey, August A Allocco, Rebecca L Walker, Carol Nelson-Williams, Hannah Smith, Ashley Dunbar, Sierra Conine, Qiongshi Lu, Xue Zeng, Michael C Sierant, James R Knight, William Sullivan, Phan Q Duy, Tyrone DeSpenza, Benjamin C Reeves, Jason K Karimy, Arnaud Marlier, Christopher Castaldi, Irina R Tikhonova, Boyang Li, Helena Perez Peña, James R Broach, Edith M Kabachelor, Peter Ssenyonga, Christine Hehnly, Li Ge, Boris Keren, Andrew T Timberlake, June Goto, Francesco T Mangano, James M Johnston, William E Butler, Benjamin C Warf, Edward R Smith, Steven J Schiff, David D Limbrick, Gregory Heuer, Eric M Jackson, Bermans J Iskandar, Shrikant Mane, Shozeb M Haider, Bulent Guclu, Yasar Bayri, Yener Sahin, Charles C Duncan, Michael L J Apuzzo, Michael L DiLuna, Ellen J Hoffman, Nenad Sestan, Laura R Ment, Seth L Alper, Kaya Bilguvar, Daniel H Geschwind, Murat Günel, Richard P Lifton, Kristopher T Kahle
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature medicine 26 (11) (2020)
Andrew T Timberlake, Sheng Chih Jin, Carol Nelson-Williams, Robin Wu, Charuta G Furey, Barira Islam, Shozeb M Haider, Erin Loring, Amy Galm, null null, Derek M Steinbacher, Dawid Larysz, David A Staffenberg, Roberto L Flores, Eduardo D Rodriguez, Titus J Boggon, John A Persing, Richard P Lifton
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proceedings of the National Academy of Sciences of the United States of America 116 (30) (2019)
Andrew T Timberlake, Robin Wu, Carol Nelson-Williams, Charuta G Furey, Kristi I Hildebrand, Scott W Elton, Jeyhan S Wood, John A Persing, Richard P Lifton
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis. Human genome variation 5 (2018)
Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. eLife 5 (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Andrew T Timberlake