Costello syndrome: Clinical phenotype, genotype, and management guidelines
Gripp, Karen W., Morse, Lindsey A., Axelrad, Marni, Chatfield, Kathryn C., Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E., Schwartz, David D., Sibbles, Barbara J., Siegel, Dawn, Shankar, Suma P., Stevenson, David A., Thacker, Mihir M., Weaver, K. Nicole, White, Sue M., Rauen, Katherine A.
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
Get full text
Journal Article
Fetal magnetic resonance imaging of skeletal dysplasias
Gilligan, Leah A., Calvo-Garcia, Maria A., Weaver, K. Nicole, Kline-Fath, Beth M.
Published in Pediatric radiology (01.02.2020)
Published in Pediatric radiology (01.02.2020)
Get full text
Journal Article
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development
Wilderman, Andrea, D'haene, Eva, Baetens, Machteld, Yankee, Tara N, Winchester, Emma Wentworth, Glidden, Nicole, Roets, Ellen, Van Dorpe, Jo, Janssens, Sandra, Miller, Danny E, Galey, Miranda, Brown, Kari M, Stottmann, Rolf W, Vergult, Sarah, Weaver, K Nicole, Brugmann, Samantha A, Cox, Timothy C, Cotney, Justin
Published in Nature communications (02.01.2024)
Published in Nature communications (02.01.2024)
Get full text
Journal Article
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis
Shalhub, Sherene, Byers, Peter H., Hicks, Kelli L., Coleman, Dawn M., Davis, Frank M., De Caridi, Giovanni, Weaver, K. Nicole, Miller, Erin M., Schermerhorn, Marc L., Shean, Katie, Oderich, Gustavo, Ribeiro, Mauricio, Nishikawa, Cole, Charlton-Ouw, Kristofer, Behrendt, Christian-Alexander, Debus, E. Sebastian, von Kodolitsch, Yskert, Zarkowsky, Devin, Powell, Richard J., Pepin, Melanie, Milewicz, Dianna M., Regalado, Ellen S., Lawrence, Peter F., Woo, Karen
Published in Journal of vascular surgery (01.01.2020)
Published in Journal of vascular surgery (01.01.2020)
Get full text
Journal Article
Acrofacial dysostosis, Cincinnati type: a mandibulofacial dysostosis syndrome with limb anomalies caused by POLR1A dysfunction
Weaver, K. Nicole, Noack Watt, Kristin E., Hufnagel, Robert B., Acedo, Joaquin Navajas, Linscott, Luke L., Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R., Trainor, Paul A., Wieczorek, Dagmar, Saal, Howard M.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
Get full text
Journal Article
Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development
Perl, Eliyahu, Ravisankar, Padmapriyadarshini, Beerens, Manu E., Mulahasanovic, Lejla, Smallwood, Kelly, Sasso, Marion Bermúdez, Wenzel, Carina, Ryan, Thomas D., Komár, Matej, Bove, Kevin E., MacRae, Calum A., Weaver, K. Nicole, Prada, Carlos E., Waxman, Joshua S.
Published in HGG advances (14.07.2022)
Published in HGG advances (14.07.2022)
Get full text
Journal Article
Management of Airway Obstruction in Infants With Pierre Robin Sequence
Runyan, Christopher M, Uribe-Rivera, Armando, Tork, Shahryar, Shikary, Tasneem A, Ehsan, Zarmina, Weaver, K Nicole, Hossain, Md Monir, Gordon, Christopher B, Pan, Brian S
Published in Plastic and reconstructive surgery. Global open (01.05.2018)
Published in Plastic and reconstructive surgery. Global open (01.05.2018)
Get full text
Journal Article
Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient
Gelineau-Morel, Rose, Lukacs, Marshall, Weaver, K Nicole, Hufnagel, Robert B, Gilbert, Donald L, Stottmann, Rolf W
Published in Genes (14.10.2016)
Published in Genes (14.10.2016)
Get full text
Journal Article
Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients
Yang, Zeyu, Shikany, Amy, Ni, Yizhao, Zhang, Ge, Weaver, K. Nicole, Chen, Jing
Published in Genetics in medicine (01.11.2022)
Published in Genetics in medicine (01.11.2022)
Get full text
Journal Article
Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)–Associated Pulmonary Vascular Disease
Weaver, K. Nicole, Wang, Dehua, Cnota, James, Gardner, Nicholas, Stabley, Deborah, Sol-Church, Katia, Gripp, Karen W., Witte, David P., Bove, Kevin E., Hopkin, Robert J.
Published in Pediatric and developmental pathology (01.11.2014)
Published in Pediatric and developmental pathology (01.11.2014)
Get full text
Journal Article
Sleep Outcomes in Neonates with Pierre Robin Sequence Undergoing External Mandibular Distraction: A Longitudinal Analysis
Ehsan, Zarmina, Weaver, K Nicole, Pan, Brian S, Huang, Guixia, Hossain, Md M, Simakajornboon, Narong
Published in Plastic and reconstructive surgery (1963) (01.11.2020)
Published in Plastic and reconstructive surgery (1963) (01.11.2020)
Get more information
Journal Article
MEK Inhibition Improves Cardiomyopathy in Costello Syndrome
Geddes, Gabrielle C., Parent, John J., Lander, Julie, Jeewa, Aamir, Ware, Stephanie M., Villa, Chet, Chatfield, Kathryn C., Weaver, K. Nicole
Published in Journal of the American College of Cardiology (11.04.2023)
Published in Journal of the American College of Cardiology (11.04.2023)
Get full text
Journal Article
Phenotypes and genotypes in a cohort of children with single-ventricle CHD
Baker, Elizabeth K, Shikany, Amy, Winlaw, David S, Weaver, K Nicole
Published in Cardiology in the young (01.04.2024)
Published in Cardiology in the young (01.04.2024)
Get more information
Journal Article
Reply: Sleep Outcomes in Neonates with Pierre Robin Sequence Undergoing External Mandibular Distraction: A Longitudinal Analysis
Ehsan, Zarmina, Weaver, K Nicole, Pan, Brian S, Huang, Guixia, Hossain, Md M, Simakajornboon, Narong
Published in Plastic and reconstructive surgery (1963) (01.09.2021)
Published in Plastic and reconstructive surgery (1963) (01.09.2021)
Get more information
Journal Article
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome
Shalhub, Sherene, Byers, Peter H., Hicks, Kelli L., Charlton-Ouw, Kristofer, Zarkowsky, Devin, Coleman, Dawn M., Davis, Frank M., Regalado, Ellen S., De Caridi, Giovanni, Weaver, K. Nicole, Miller, Erin M., Schermerhorn, Marc L., Shean, Katie, Oderich, Gustavo, Ribeiro, Mauricio, Nishikawa, Cole, Behrendt, Christian-Alexander, Debus, E. Sebastian, von Kodolitsch, Yskert, Powell, Richard J., Pepin, Melanie, Milewicz, Dianna M., Lawrence, Peter F., Woo, Karen
Published in Journal of vascular surgery (01.11.2019)
Published in Journal of vascular surgery (01.11.2019)
Get full text
Journal Article
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies
Serbinski, Carolyn R., Vanderwal, April, Chadwell, Sarah E., Sanchez, Ana Isabel, Hopkin, Robert J., Hufnagel, Robert B., Weaver, K. Nicole, Prada, Carlos E.
Published in American journal of medical genetics. Part A (01.02.2024)
Published in American journal of medical genetics. Part A (01.02.2024)
Get full text
Journal Article
Estimating prevalence of rare genetic disease diagnoses using electronic health records in a children’s hospital
Herr, Kate, Lu, Peixin, Diamreyan, Kessi, Xu, Huan, Mendonca, Eneida, Weaver, K. Nicole, Chen, Jing
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
Get full text
Journal Article
Longitudinal Sleep Outcomes in Neonates With Pierre Robin Sequence Treated Conservatively
Ehsan, Zarmina, Kurian, Christopher, Weaver, K Nicole, Pan, Brian S, Huang, Guixia, Hossain, Md M, Simakajornboon, Narong
Published in Journal of clinical sleep medicine (15.03.2019)
Published in Journal of clinical sleep medicine (15.03.2019)
Get full text
Journal Article