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 2018

PC16. Mutations in FOXI3 Cause Microtia and Craniofacial Microsomia

por Timberlake, Andrew T., Quiat, Daniel, Cunningham, Michael L., Persing, John, Luquetti, Daniela, Heike, Carrie L., Seidman, Jonathan, Seidman, Christine
Publicado 2023

1. Mutations in FOXI3 Cause Microtia and Craniofacial Microsomia

por Timberlake, Andrew T., Quiat, Daniel, Cunningham, Michael, Persing, John, Luquetti, Daniela V., Heike, Carrie L., Seidman, Jonathan, Seidman, Christine
Publicado 2023

D29. Epidemiology of Oral Cleft and Craniosynostosis: Maternal, Toxic and Social Disease Associations

por Verzella, Alexandra N., Laspro, Matteo, Brydges, Hilliard T., Chaya, Bachar F., Timberlake, Andrew T., Cassidy, Michael F., Rodriguez, Eduardo D., Flores, Roberto L.
Publicado 2023

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 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 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 2018

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 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 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 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 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 2017

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

por Quiat, Daniel, Timberlake, Andrew T., Curran, Justin J., Cunningham, Michael L., McDonough, Barbara, Artunduaga, Maria A., DePalma, Steven R., Duenas-Roque, Milagros M., Gorham, Joshua M., Gustafson, Jonas A., Hamdan, Usama, Hing, Anne V., Hurtado-Villa, Paula, Nicolau, Yamileth, Osorno, Gabriel, Pachajoa, Harry, Porras-Hurtado, Gloria L., Quintanilla-Dieck, Lourdes, Serrano, Luis, Tumblin, Melissa, Zarante, Ignacio, Luquetti, Daniela V., Eavey, Roland D., Heike, Carrie L., Seidman, Jonathan G., Seidman, Christine E.
Publicado 2023

Haploinsufficiency of SF3B2 causes craniofacial microsomia

por Timberlake, Andrew T., Griffin, Casey, Heike, Carrie L., Hing, Anne V., Cunningham, Michael L., Chitayat, David, Davis, Mark R., Doust, Soghra J., Drake, Amelia F., Duenas-Roque, Milagros M., Goldblatt, Jack, Gustafson, Jonas A., Hurtado-Villa, Paula, Johns, Alexis, Karp, Natalya, Laing, Nigel G., Magee, Leanne, Mullegama, Sureni V., Pachajoa, Harry, Porras-Hurtado, Gloria L., Schnur, Rhonda E., Slee, Jennie, Singer, Steven L., Staffenberg, David A., Timms, Andrew E., Wise, Cheryl A., Zarante, Ignacio, Saint-Jeannet, Jean-Pierre, Luquetti, Daniela V.
Publicado 2021

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 2021