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Timothy C Cox (Timothy Cox)

Loop profile Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 35

Top Venues

Genes

International journal of molecular sciences

American journal of medical genetics. Part A

Biology

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

Publications

Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W Scherer, Nara Lygia de Macena Sobreira, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C Murray, Andrew C Lidral, Azeez Butali, Michael F Buckley, Tony Roscioli, David A Koolen, Laurie H Seaver, Cynthia A Prows, Rolf W Stottmann, Timothy C Cox
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American journal of medical genetics. Part A (2023)
Piranit Nik Kantaputra, Teerada Klaisuwan, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Salin Kiratikanon, Charoen Choonhakarn, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Chumpol Ngamphiw, Patrizia Pontisso, Timothy C Cox, Puey Ounjai
SERPINB3 , Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis. Genes 14 (2) (2023)
Piranit Nik Kantaputra, Teerada Klaisuwan, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Salin Kiratikanon, Charoen Choonhakarn, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Chumpol Ngamphiw, Patrizia Pontisso, Timothy C Cox, Puey Ounjai
SERPINB3 , Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis. Genes 14 (2) (2023)
Chomchanok Panyarat, Siriruk Nakornchai, Kanoknart Chintakanon, Niramol Leelaadisorn, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Ploy Adisornkanj, Chumpol Ngamphiw, Timothy C Cox, Piranit Nik Kantaputra
Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth. International journal of molecular sciences 24 (5) (2023)
Piranit Nik Kantaputra, Peeranat Jatooratthawichot, Ploy Adisornkanj, Panita Kitsadayurach, Massupa Kaewgahya, Bjorn Olsen, Atsushi Ohazama, Chumpol Ngamphiw, Sissades Tongsima, Timothy C Cox, James R Ketudat Cairns
Rare Variants in LRP4 Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans. Biology 12 (2) (2023)
Chomchanok Panyarat, Siriruk Nakornchai, Kanoknart Chintakanon, Niramol Leelaadisorn, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Ploy Adisornkanj, Chumpol Ngamphiw, Timothy C Cox, Piranit Nik Kantaputra
Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth. International journal of molecular sciences 24 (5) (2023)
Piranit Nik Kantaputra, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C Cox, James R Ketudat Cairns
A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII. Genes 14 (2) (2023)
Katherine A Waugh, Ross Minter, Jessica Baxter, Congwu Chi, Matthew D Galbraith, Kathryn D Tuttle, Neetha P Eduthan, Kohl T Kinning, Zdenek Andrysik, Paula Araya, Hannah Dougherty, Lauren N Dunn, Michael Ludwig, Kyndal A Schade, Dayna Tracy, Keith P Smith, Ross E Granrath, Nicolas Busquet, Santosh Khanal, Ryan D Anderson, Liza L Cox, Belinda Enriquez Estrada, Angela L Rachubinski, Hannah R Lyford, Eleanor C Britton, Katherine A Fantauzzo, David J Orlicky, Jennifer L Matsuda, Kunhua Song, Timothy C Cox, Kelly D Sullivan, Joaquín Maximiliano Espinosa
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model. Nature genetics (2023)
Piranit Nik Kantaputra, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C Cox, James R Ketudat Cairns
A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII. Genes 14 (2) (2023)
Piranit Nik Kantaputra, Peeranat Jatooratthawichot, Ploy Adisornkanj, Panita Kitsadayurach, Massupa Kaewgahya, Bjorn Olsen, Atsushi Ohazama, Chumpol Ngamphiw, Sissades Tongsima, Timothy C Cox, James R Ketudat Cairns
Rare Variants in LRP4 Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans. Biology 12 (2) (2023)
Piranit Nik Kantaputra, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C Cox, James R Ketudat Cairns
A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII. Genes 14 (2) (2023)
Piranit Nik Kantaputra, Teerada Klaisuwan, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Salin Kiratikanon, Charoen Choonhakarn, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Chumpol Ngamphiw, Patrizia Pontisso, Timothy C Cox, Puey Ounjai
SERPINB3 , Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis. Genes 14 (2) (2023)
Piranit Nik Kantaputra, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C Cox, James R Ketudat Cairns
A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII. Genes 14 (2) (2023)
Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard Alan Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C Cox, Andrew K Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E Antonarakis
FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nature communications 14 (1) (2023)
Chomchanok Panyarat, Siriruk Nakornchai, Kanoknart Chintakanon, Niramol Leelaadisorn, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Ploy Adisornkanj, Chumpol Ngamphiw, Timothy C Cox, Piranit Nik Kantaputra
Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth. International journal of molecular sciences 24 (5) (2023)
Piranit Nik Kantaputra, Teerada Klaisuwan, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Salin Kiratikanon, Charoen Choonhakarn, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Chumpol Ngamphiw, Patrizia Pontisso, Timothy C Cox, Puey Ounjai
SERPINB3 , Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis. Genes 14 (2) (2023)
Mackenzie A Michell-Robinson, Kristin E N Watt, Vladimir Grouza, Julia Macintosh, Maxime Pinard, Marius Tuznik, Xiaoru Chen, Lama Darbelli, Chia-Lun Wu, Stefanie Perrier, Daryan Chitsaz, Nonthué A Uccelli, Hanwen Liu, Timothy C Cox, Christoph W Müller, Timothy E Kennedy, Benoit Coulombe, David A Rudko, Paul A Trainor, Geneviève Bernard
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy. Brain : a journal of neurology (2023)
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L Cox, Paul C Lee, Li Q Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W Scherer, Nara Lygia de Macena Sobreira, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C Murray, Andrew C Lidral, Azeez Butali, Michael F Buckley, Tony Roscioli, David A Koolen, Laurie H Seaver, Cynthia A Prows, Rolf W Stottmann, Timothy C Cox
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. American journal of medical genetics. Part A (2023)
Chomchanok Panyarat, Siriruk Nakornchai, Kanoknart Chintakanon, Niramol Leelaadisorn, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Ploy Adisornkanj, Chumpol Ngamphiw, Timothy C Cox, Piranit Nik Kantaputra
Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth. International journal of molecular sciences 24 (5) (2023)
Piranit Nik Kantaputra, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C Cox, James R Ketudat Cairns
A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII. Genes 14 (2) (2023)
Piranit Nik Kantaputra, Teerada Klaisuwan, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Worrachet Intachai, Bjorn Olsen, Thanapat Sastraruji, Sissades Tongsima, Chumpol Ngamphiw, Jatupol Kampuansai, Timothy C Cox, Salin Kiratikanon
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency. Genes 14 (1) (2022)
Stanley M Kanai, Caleb Heffner, Timothy C Cox, Michael L Cunningham, Francisco A Perez, Aaron M Bauer, Philip Reigan, Cristan Carter, Stephen A Murray, David E Clouthier
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants. Disease models & mechanisms 15 (4) (2022)
Piranit Nik Kantaputra, Teerada Klaisuwan, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Worrachet Intachai, Bjorn Olsen, Thanapat Sastraruji, Sissades Tongsima, Chumpol Ngamphiw, Jatupol Kampuansai, Timothy C Cox, Salin Kiratikanon
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency. Genes 14 (1) (2022)
Adrienne E D Stormo, Farbod Shavarebi, Molly FitzGibbon, Elizabeth M Earley, Hannah Ahrendt, Lotus S Lum, Erik Verschueren, Danielle L Swaney, Gaia Skibinski, Abinaya Ravisankar, Jeffrey van Haren, Emily J Davis, Jeffrey R Johnson, John Von Dollen, Carson Balen, Jacob Porath, Claudia Crosio, Christian Mirescu, Ciro Iaccarino, William T Dauer, R Jeremy Nichols, Torsten Wittmann, Timothy C Cox, Steven Finkbeiner, Nevan J Krogan, Scott A Oakes, Annie Hiniker
The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity. The Journal of cell biology 221 (4) (2022)
Piranit Nik Kantaputra, Teerada Klaisuwan, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Worrachet Intachai, Bjorn Olsen, Thanapat Sastraruji, Sissades Tongsima, Chumpol Ngamphiw, Jatupol Kampuansai, Timothy C Cox, Salin Kiratikanon
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency. Genes 14 (1) (2022)
Piranit Nik Kantaputra, Teerada Klaisuwan, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Worrachet Intachai, Bjorn Olsen, Thanapat Sastraruji, Sissades Tongsima, Chumpol Ngamphiw, Jatupol Kampuansai, Timothy C Cox, Salin Kiratikanon
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency. Genes 14 (1) (2022)
Piranit Nik Kantaputra, Teerada Klaisuwan, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Worrachet Intachai, Bjorn Olsen, Thanapat Sastraruji, Sissades Tongsima, Chumpol Ngamphiw, Jatupol Kampuansai, Timothy C Cox, Salin Kiratikanon
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency. Genes 14 (1) (2022)
Joshua H Siegle, Xiaoxuan Jia, Séverine Durand, Sam Gale, Corbett Bennett, Nile Graddis, Greggory Heller, Tamina K Ramirez, Hannah Choi, Jennifer A Luviano, Peter A Groblewski, Ruweida Ahmed, Anton Arkhipov, Amy Bernard, Yazan N Billeh, Dillan Brown, Michael A Buice, Nicolas Cain, Shiella Caldejon, Linzy Casal, Andrew Cho, Maggie Chvilicek, Timothy C Cox, Kael Dai, Daniel J Denman, Saskia E J de Vries, Roald Dietzman, Luke Esposito, Colin Farrell, David Feng, John Galbraith, Marina Garrett, Emily C Gelfand, Nicole Hancock, Julie A Harris, Robert Howard, Brian Hu, Ross Hytnen, Ramakrishnan Iyer, Erika Jessett, Katelyn Johnson, India Kato, Justin Kiggins, Sophie Lambert, Jerome Lecoq, Peter Ledochowitsch, Jung Hoon Lee, Arielle Leon, Yang Li, Elizabeth Liang, Fuhui Long, Kyla Mace, Jose Melchior, Daniel Millman, Tyler Mollenkopf, Chelsea Nayan, Lydia Ng, Kiet Ngo, Thuyahn Nguyen, Philip R Nicovich, Kat North, Gabriel Koch Ocker, Doug Ollerenshaw, Michael Oliver, Marius Pachitariu, Jed Perkins, Melissa Reding, David Reid, Miranda Robertson, Kara Ronellenfitch, Sam Seid, Cliff Slaughterbeck, Michelle Stoecklin, David Sullivan, Ben Sutton, Jackie Swapp, Carol Thompson, Kristen Turner, Wayne Wakeman, Jennifer D Whitesell, Derric Williams, Ali Williford, Rob Young, Hongkui Zeng, Sarah Naylor, John W Phillips, R Clay Reid, Samuel D Gale, Shawn R Olsen, Christof Koch
Survey of spiking in the mouse visual system reveals functional hierarchy. Nature 592 (7852) (2021)
Makoto Abe, Timothy C Cox, Anthony B Firulli, Stanley M Kanai, Jacob Dahlka, Kim-Chew Lim, James Douglas Engel, David E Clouthier
GATA3 is essential for separating patterning domains during facial morphogenesis. Development (Cambridge, England) 148 (17) (2021)
Jill J Weyers, Jagadambika J Gunaje, Benjamin Van Biber, Amy Martinson, Hans Reinecke, William M Mahoney, Stephen M Schwartz, Timothy C Cox, Charles E Murry
Sonic Hedgehog upregulation does not enhance the survival and engraftment of stem cell-derived cardiomyocytes in infarcted hearts. PloS one 15 (1) (2020)
Arthavan Selvanathan, Cheng Yee Nixon, Ying Zhu, Luigi Scietti, Federico Forneris, Lina M Moreno Uribe, Andrew C Lidral, Peter A Jezewski, John B Mulliken, Jeffrey C Murray, Michael F Buckley, Timothy C Cox, Tony Roscioli
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer. Genes 11 (4) (2020)
Beau Sylvester, Frederick Brindopke, Akiko Suzuki, Melissa Giron, Allyn Auslander, Richard L Maas, Becky Pinjou Tsai, Hanlin Gao, William Magee, Timothy C Cox, Pedro A Sanchez-Lara
A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate. Genes 11 (8) (2020)
Laura S Gammill, Timothy C Cox, Sally Moody, Lisa A Taneyhill, Paul A Trainor, Ralph S Marcucio
The Society for Craniofacial Genetics and Developmental Biology 40th annual meeting. American journal of medical genetics. Part A 176 (5) (2019)
Timothy C Cox, Andrew C Lidral, Jason C McCoy, Huan Liu, Liza L Cox, Ying Zhu, Ryan D Anderson, Lina M Moreno Uribe, Deepti Anand, Mei Deng, Chika T Richter, Nichole L Nidey, Jennifer M Standley, Elizabeth E Blue, Jessica X Chong, Joshua D Smith, Edwin P Kirk, Hanka Venselaar, Katy N Krahn, Hans van Bokhoven, Huiqing Zhou, Robert A Cornell, Ian A Glass, Michael J Bamshad, Deborah A Nickerson, Jeffrey C Murray, Salil A Lachke, Thomas B Thompson, Michael F Buckley, Tony Roscioli
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Human mutation 40 (10) (2019)
Jessica M Rosin, Wenjie Li, Liza L Cox, Sara M Rolfe, Victor Latorre, Jennifer A Akiyama, Axel Visel, Takashi Kuramoto, Nicoletta Bobola, Eric E Turner, Timothy C Cox
A distal 594 bp ECR specifies Hmx1 expression in pinna and lateral facial morphogenesis and is regulated by the Hox-Pbx-Meis complex. Development (Cambridge, England) 143 (14) (2016)

Timothy C Cox.css-eqlu8i{font-size:small;padding-left:4px;} (Timothy Cox)

Publication Activity (10 Years)

Top Topics

Top Venues

Timothy C Cox (Timothy Cox)