Abstract 104: Conformity of the Actual to Planned Result in Orthognathic Surgery

por Gabrick, Kyle, Wilson, Alexander, Timberlake, Andrew T., Sawh-Martinez, Rajendra, Madari, Sarika, Steinbacher, Derek
Publicado en Plast Reconstr Surg Glob Open (2018)

Highly efficient targeted mutagenesis in axolotl using Cas9 RNA-guided nuclease

por Flowers, G. Parker, Timberlake, Andrew T., Mclean, Kaitlin C., Monaghan, James R., Crews, Craig M.
Publicado 2014

Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst

por Furey, Charuta G., Timberlake, Andrew T., Nelson-Williams, Carol, Duran, Daniel, Li, Peining, Jackson, Eric M., Kahle, Kristopher T.
Publicado en JAMA Neurol (2017)

Serotonin and the 5‐HT7 receptor: The link between hepatocytes, IGF‐1 and small intestinal neuroendocrine tumors

por Svejda, Bernhard, Kidd, Mark, Timberlake, Andrew, Harry, Kathy, Kazberouk, Alexander, Schimmack, Simon, Lawrence, Ben, Pfragner, Roswitha, Modlin, Irvin M.
Publicado en Cancer Sci (2013)

A genome-wide case-only test for the detection of digenic inheritance in human exomes

por Kerner, Gaspard, Bouaziz, Matthieu, Cobat, Aurélie, Bigio, Benedetta, Timberlake, Andrew T., Bustamante, Jacinta, Lifton, Richard P., Casanova, Jean-Laurent, Abel, Laurent
Publicado en Proc Natl Acad Sci U S A (2020)

Abstract 82: De novo Mutation Burden Reveals Novel Molecular Subtypes of Non-syndromic Craniosynostosis

por Timberlake, Andrew T., Furey, Charuta G., Choi, Jungmin, Nelson-Williams, Carol, Steinbacher, Derek M., Larysz, Dawid, Persing, John A., Lifton, Richard P.
Publicado en Plast Reconstr Surg Glob Open (2018)

9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus

por Furey, Charuta, Antwi, Prince, Duran, Daniel, Timberlake, Andrew T., Nelson-Williams, Carol, Matouk, Charles C., DiLuna, Michael L., Günel, Murat, Kahle, Kristopher T.
Publicado en Cold Spring Harb Mol Case Stud (2018)

Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis

por Timberlake, Andrew T., Wu, Robin, Nelson-Williams, Carol, Furey, Charuta G., Hildebrand, Kristi I., Elton, Scott W., Wood, Jeyhan S., Persing, John A., Lifton, Richard P.
Publicado en Hum Genome Var (2018)

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

por Timberlake, Andrew T., Furey, Charuta G., Choi, Jungmin, Nelson-Williams, Carol, Loring, Erin, Galm, Amy, Kahle, Kristopher T., Steinbacher, Derek M., Larysz, Dawid, Persing, John A., Lifton, Richard P.
Publicado en Proc Natl Acad Sci U S A (2017)

Abstract 83: Frustration and Emotional Regulation in Nonsyndromic Craniosynostosis: an fMRI Study

por Wu, Robin T., Yang, Jenny F., Zucconi, William B., Lacadie, Cheryl, Swallow, Matthew, Timberlake, Andrew, Sun, Alexander H., Cabrejo, Raysa, Eilbott, Jeffrey, Chuang, Carolyn, Brooks, Eric, Steinbacher, Derek M., Pelphrey, Kevin, Persing, John A.
Publicado en Plast Reconstr Surg Glob Open (2018)

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

por Timberlake, Andrew T., Jin, Sheng Chih, Nelson-Williams, Carol, Wu, Robin, Furey, Charuta G., Islam, Barira, Haider, Shozeb, Loring, Erin, Galm, Amy, Steinbacher, Derek M., Larysz, Dawid, Staffenberg, David A., Flores, Roberto L., Rodriguez, Eduardo D., Boggon, Titus J., Persing, John A., Lifton, Richard P.
Publicado en Proc Natl Acad Sci U S A (2019)

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

por Calpena, Eduardo, Wurmser, Maud, McGowan, Simon J, Atique, Rodrigo, Bertola, Débora R, Cunningham, Michael L, Gustafson, Jonas A, Johnson, David, Morton, Jenny E V, Passos-Bueno, Maria Rita, Timberlake, Andrew T, Lifton, Richard P, Wall, Steven A, Twigg, Stephen R F, Maire, Pascal, Wilkie, Andrew O M
Publicado en J Med Genet (2022)

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

por Timberlake, Andrew T, Choi, Jungmin, Zaidi, Samir, Lu, Qiongshi, Nelson-Williams, Carol, Brooks, Eric D, Bilguvar, Kaya, Tikhonova, Irina, Mane, Shrikant, Yang, Jenny F, Sawh-Martinez, Rajendra, Persing, Sarah, Zellner, Elizabeth G, Loring, Erin, Chuang, Carolyn, Galm, Amy, Hashim, Peter W, Steinbacher, Derek M, DiLuna, Michael L, Duncan, Charles C, Pelphrey, Kevin A, Zhao, Hongyu, Persing, John A, Lifton, Richard P
Publicado en eLife (2016)

Abstract 24: Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis Via Rare SMAD6 and Common BMP2 Alleles

por Timberlake, Andrew T., Choi, Jungmin, Zaidi, Samir, Lu, Qiongshi, Nelson-Williams, Carol, Brooks, Eric D., Bilguvar, Kaya, Tikhonova, Irina, Mane, Shrikant, Yang, Jenny F., Sawh-Martinez, Rajendra, Persing, Sarah, Zellner, Elizabeth G., Loring, Erin, Chuang, Carolyn, Galm, Amy, Hashim, Peter W., Steinbacher, Derek, DiLuna, Michael L., Duncan, Charles C., Pelphrey, Kevin A., Zhao, Hongyu, Persing, John A., Lifton, Richard P.
Publicado en Plast Reconstr Surg Glob Open (2017)

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

por Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril
Publicado en Hum Genet (2021)

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

por Furey, Charuta Gavankar, Choi, Jungmin, Jin, Sheng Chih, Zeng, Xue, Timberlake, Andrew T., Nelson-Williams, Carol, Mansuri, M. Shahid, Lu, Qiongshi, Duran, Daniel, Panchagnula, Shreyas, Allocco, August, Karimy, Jason K., Khanna, Arjun, Gaillard, Jonathan R., DeSpenza, Tyrone, Antwi, Prince, Loring, Erin, Butler, William E., Smith, Edward R., Warf, Benjamin C., Strahle, Jennifer M., Limbrick, David D., Storm, Phillip B., Heuer, Gregory, Jackson, Eric M., Iskandar, Bermans J., Johnston, James M., Tikhonova, Irina, Castaldi, Christopher, López-Giráldez, Francesc, Bjornson, Robert D., Knight, James R., Bilguvar, Kaya, Mane, Shrikant, Alper, Seth L., Haider, Shozeb, Guclu, Bulent, Bayri, Yasar, Sahin, Yener, Apuzzo, Michael L.J., Duncan, Charles C., DiLuna, Michael L., Günel, Murat, Lifton, Richard P., Kahle, Kristopher T.
Publicado en Neuron (2018)

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

por Jin, Sheng Chih, Dong, Weilai, Kundishora, Adam J., Panchagnula, Shreyas, Moreno-De-Luca, Andres, Furey, Charuta G., Allocco, August A., Walker, Rebecca L., Nelson-Williams, Carol, Smith, Hannah, Dunbar, Ashley, Conine, Sierra, Lu, Qiongshi, Zeng, Xue, Sierant, Michael C., Knight, James R., Sullivan, William, Duy, Phan Q., DeSpenza, Tyrone, Reeves, Benjamin C., Karimy, Jason K., Marlier, Arnaud, Castaldi, Christopher, Tikhonova, Irina R., Li, Boyang, Peña, Helena Perez, Broach, James R., Kabachelor, Edith M., Ssenyonga, Peter, Hehnly, Christine, Ge, Li, Keren, Boris, Timberlake, Andrew T., Goto, June, Mangano, Francesco T., Johnston, James M., Butler, William E., Warf, Benjamin C., Smith, Edward R., Schiff, Steven J., Limbrick, David D., Heuer, Gregory, Jackson, Eric M., Iskandar, Bermans J., Mane, Shrikant, Haider, Shozeb, Guclu, Bulent, Bayri, Yasar, Sahin, Yener, Duncan, Charles C., Apuzzo, Michael L. J., DiLuna, Michael L., Hoffman, Ellen J., Sestan, Nenad, Ment, Laura R., Alper, Seth L., Bilguvar, Kaya, Geschwind, Daniel H., Günel, Murat, Lifton, Richard P., Kahle, Kristopher T.
Publicado en Nat Med (2020)