Weaver Lab

Publications

Smallwood, K; Watt, KE N; Ide, S; Baltrunaite, K; Brunswick, C; Inskeep, K; Capannari, C; Adam, MP; Begtrup, A; Bertola, DR; et al. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. The American Journal of Human Genetics. 2023; 110:809-825.

van Woerden, GM; Senden, R; de Konink, C; Trezza, RA; Baban, A; Bassetti, JA; van Bever, Y; Bird, LM; van Bon, BW; Brooks, AS; et al. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Human Mutation. 2022; 43:1377-1395.

Hancock, B; Miller, EM; Parrott, A; Weaver, KN; Tretter, JT; Pilipenko, V; Shikany, AR. Retrospective comparison of parent-reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study. Journal of Genetic Counseling. 2022; 31:965-975.

Weaver, KN; Chen, J; Shikany, A; White, PS; Prada, CE; Gelb, BD; Cnota, JF. Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis. Circulation: Genomic and Precision Medicine. 2022; 15:e003635.

Perl, E; Ravisankar, P; Beerens, ME; Mulahasanovic, L; Smallwood, K; Sasso, MB; Wenzel, C; Ryan, TD; Komár, M; Bove, KE; et al. Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development. HGG Advances. 2022; 3:100115.

Zarate, YA; Morris, SA; Blackshare, A; Algaze, CA; Connor, BS; Kim, AJ; Yutzey, KE; Miller, EM; Weaver, KN; Collins, RT. A clinical scoring system for early onset (neonatal) Marfan syndrome. Genetics in Medicine. 2022; 24:1503-1511.

Weaver, KN; Care, M; Wakefield, E; Zarate, YA; Skoch, J; Gripp, KW; Prada, CE. Craniosynostosis is a feature of Costello syndrome. American Journal of Medical Genetics, Part A. 2022; 188:1280-1286.

Weaver, KN; Sullivan, BR; Balow, SA; Hopkin, S; Chini, BA; Pan, BS; Stottmann, RW; Bender, PL; Hopkin, RJ; Zhang, X; et al. Robin sequence without cleft palate: Genetic diagnoses and management implications. American Journal of Medical Genetics, Part A. 2022; 188:160-177.

Oláhová, M; Peter, B; Szilagyi, Z; Diaz-Maldonado, H; Singh, M; Sommerville, EW; Blakely, EL; Collier, JJ; Hoberg, E; Stránecký, V; et al. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nature Communications. 2021; 12:1135.

Ehsan, Z; Weaver, KN; Weaver, KN; Pan, BS; Weaver, KN; Huang, G; Hossain, MM; Weaver, KN; Huang, G; Hossain, MM; et al. Reply: Sleep Outcomes in Neonates with Pierre Robin Sequence Undergoing External Mandibular Distraction: A Longitudinal Analysis. Plastic and Reconstructive Surgery. 2021; 148:502e-503e.

Van Gucht, I; Meester, JA N; Bento, JR; Bastiaansen, M; Bastianen, J; Luyckx, I; Van Den Heuvel, L; Neutel, CH G; Guns, PJ; Vermont, M; et al. A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8. The American Journal of Human Genetics. 2021; 108:1115-1125.

Powell, SK; Almeneisi, H; Alsaied, T; Shikany, A; Riley, L; Miller, E; Belonis, A; Weaver, KN; Brown, N; Mori, S; et al. Rotational Position of the Aortic Root is Associated with Increased Aortic Dimensions in Marfan and Loeys-Dietz Syndrome. Pediatric Cardiology. 2021; 42:1157-1161.

Abell, K; Hopkin, RJ; Bender, PL; Jackson, F; Smallwood, K; Sullivan, B; Stottmann, RW; Saal, HM; Weaver, KN. Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. American Journal of Medical Genetics, Part A. 2021; 185:413-423.

Ehsan, Z; Weaver, KN; Pan, BS; Huang, G; Hossain, MM; Simakajornboon, N. Sleep Outcomes in Neonates with Pierre Robin Sequence Undergoing External Mandibular Distraction: A Longitudinal Analysis. Plastic and Reconstructive Surgery. 2020; 146:1103-1115.

Monteil, DC; Shikany, A; Aljeaid, D; Parrott, A; Tretter, JT; James, J; Martin, LJ; Weaver, KN. Comparison of Evolution of Aortic Root Dilation and Ghent Criteria in Preadolescents and Adolescents with and without Marfan Syndrome. The Journal of Pediatrics. 2020; 221:188-195.e1.

Parrott, A; Lombardo, R; Brown, N; Tretter, JT; Riley, L; Weaver, KN. Cantu syndrome: A longitudinal review of vascular findings in three individuals. American Journal of Medical Genetics, Part A. 2020; 182:1243-1248.

Gilligan, LA; Calvo-Garcia, MA; Weaver, KN; Kline-Fath, BM. Fetal magnetic resonance imaging of skeletal dysplasias. Pediatric Radiology: roentgenology, nuclear medicine, ultrasonics, CT, MRI. 2020; 50:224-233.

Shikany, AR; Baker, L; Stabley, DL; Robbins, K; Doyle, D; Gripp, KW; Weaver, KN. Medically actionable comorbidities in adults with Costello syndrome. American Journal of Medical Genetics, Part A. 2020; 182:130-136.

Shalhub, S; Byers, PH; Hicks, KL; Coleman, DM; Davis, FM; De Caridi, G; Weaver, KN; Miller, EM; Schermerhorn, ML; Shean, K; et al. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. Journal of Vascular Surgery. 2020; 71:149-157.

Shalhub, S; Byers, PH; Hicks, KL; Charlton-Ouw, K; Zarkowsky, D; Coleman, DM; Davis, FM; Regalado, ES; De Caridi, G; Weaver, KN; et al. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. Journal of Vascular Surgery. 2019; 70:1543-1554.

Russell, BE; Rigueur, D; Weaver, KN; Sund, K; Basil, JS; Hufnagel, RB; Prows, CA; Oestreich, A; AlGazali, L; Hopkin, RJ; et al. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Molecular Genetics and Genomic Medicine. 2019; 7:e969.

Gripp, KW; Morse, LA; Axelrad, M; Chatfield, KC; Chidekel, A; Dobyns, W; Doyle, D; Kerr, B; Lin, AE; Schwartz, DD; et al. Costello syndrome: Clinical phenotype, genotype, and management guidelines. American Journal of Medical Genetics, Part A. 2019; 179:1725-1744.

Shikany, AR; Parrott, A; James, J; Madueme, P; Weaver, KN; Cassidy, C; Khoury, PR; Miller, EM. Left ventricular outflow tract obstruction: Uptake of familial cardiac screening and parental knowledge from a single tertiary care center. Journal of Genetic Counseling. 2019; 28:779-789.

Ehsan, Z; Kurian, C; Weaver, KN; Pan, BS; Huang, G; Hossain, MM; Simakajornboon, N. Longitudinal Sleep Outcomes in Neonates With Pierre Robin Sequence Treated Conservatively. The Journal of Clinical Sleep Medicine. 2019; 15:477-482.

Anderson, K; Cnota, J; James, J; Miller, EM; Parrott, A; Pilipenko, V; Weaver, KN; Shikany, A. Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis. Congenital Heart Disease. 2019; 14:264-273.