Weaver Lab

Publications

Garzon, JP; Patete, A; Aschbacher-Smith, L; Qu'd, D; Kelly-Mancuso, G; Raski, CR; Weisman, AG; Hankins, M; Sawin, M; Kim, K; Schorry, E; Listernick, R; Simpson, BN; Prada, CE. Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2024; 196:e32095.

Wilderman, A; D’haene, E; Baetens, M; Yankee, TN; Winchester, EW; Glidden, N; Roets, E; Van Dorpe, J; Janssens, S; Miller, DE; Weaver, KN; Brugmann, SA; Cox, TC; Cotney, J. A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development. Nature Communications. 2024; 15:136.

Herr, K; Lu, P; Diamreyan, K; Xu, H; Mendonca, E; Weaver, KN; Chen, J. Estimating prevalence of rare genetic disease diagnoses using electronic health records in a children's hospital. Human Genetics and Genomics Advances. 2024; 5:100341.

Strong, A; March, ME; Cardinale, CJ; Liu, Y; Battig, MR; Finoti, LS; Matsuoka, LS; Watson, D; Sridhar, S; Jarrett, JF; Lerman, BB; Shikany, A; Weaver, KN; Hakonarson, H. Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome. Genetics in Medicine. 2024; 26:101222.

Oehlman, LB; Opotowsky, AR; Weaver, KN; Brown, NM; Barnett, CL; Miller, EM; He, H; Shikany, AR. Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease. Frontiers in Genetics. 2024; 15:1398887.

Baker, EK; Shikany, A; Winlaw, DS; Nicole Weaver, K. Phenotypes and genotypes in a cohort of children with single-ventricle CHD. Cardiology in the Young. 2024; 34:815-821.

Rigter, PM F; de Konink, C; Dunn, MJ; Proietti Onori, M; Humberson, JB; Thomas, M; Barnes, C; Prada, CE; Weaver, KN; Ryan, TD; Schulman, H; Stratton, MM; Küry, S; van Woerden, GM. Role of CAMK2D in neurodevelopment and associated conditions. The American Journal of Human Genetics. 2024; 111:364-382.

Serbinski, CR; Vanderwal, A; Chadwell, SE; Sanchez, AI; Hopkin, RJ; Hufnagel, RB; Weaver, KN; Prada, CE. Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies. American Journal of Medical Genetics, Part A. 2024; 194:195-202.

Alvarado, JL; Bermon, A; Florez, C; Castro, J; Cruz, M; Franco, H; Martinez, C; Villegas, K; Shabbir, N; Weisman, AG; Weaver, KN; Prada, CE. Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart Disease. Pediatric Cardiology. 2024; 45:55-62.

De Sainte Agathe, JM; Pode-Shakked, B; Naudion, S; Michaud, V; Arveiler, B; Fergelot, P; Delmas, J; Keren, B; Poirsier, C; Alkuraya, FS; Ginglinger, E; Gérard, B; Stottmann, RW; Trimouille, A. ARF1-related disorder: phenotypic and molecular spectrum. Journal of medical genetics. 2023; 60:999-1005.

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

Baker, EK; Brewer, CJ; Ferreira, L; Schapiro, M; Tenney, J; Wied, HM; Kline-Fath, BM; Smolarek, TA; Weaver, KN; Hopkin, RJ. Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. American Journal of Medical Genetics, Part A. 2023; 191:526-539.

Rose, SR; Wassner, AJ; Wintergerst, KA; Yayah-Jones, NH; Hopkin, RJ; Chuang, J; Smith, JR; Abell, K; LaFranchi, SH; Bethin, KE; Parisi, MA; Ralson, SJ; Scott, J; Spire, P. Congenital Hypothyroidism: Screening and Management. Pediatrics. 2023; 151:e2022060420.

Weaver, KN; Gripp, KW. Central nervous system involvement in individuals with RASopathies. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2022; 190:494-500.

Baker, EK; Solivio, B; Pode-Shakked, B; Cross, LA; Sullivan, B; Raas-Rothschild, A; Chorin, O; Barel, O; Bar-Yosef, O; Husami, A; Hopkin, RJ; Prada, CE; Stottmann, RW; Weaver, KN. PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. American Journal of Medical Genetics, Part A. 2022; 188:3262-3277.

Yang, Z; Shikany, A; Ni, Y; Zhang, G; Weaver, KN; Chen, J. Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients. Genetics in Medicine. 2022; 24:2329-2337.

Angelozzi, M; Karvande, A; Molin, AN; Ritter, AL; Leonard, JM M; Savatt, JM; Douglass, K; Myers, SM; Grippa, M; Tolchin, D; Lenberg, J; Graziano, C; Ahrens-Nicklas, RC; Lefebvre, V. Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. Journal of medical genetics. 2022; 59:1058-1068.

van Woerden, GM; Senden, R; de Konink, C; Trezza, RA; Baban, A; Bassetti, JA; van Bever, Y; Bird, LM; van Bon, BW; Brooks, AS; Tartaglia, M; Niceta, M; Elgersma, Y; Demirdas, S. 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; MacRae, CA; Weaver, KN; Prada, CE; Waxman, JS. Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development. Human Genetics and Genomics 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.

Zarate, Y; Morris, S; Blackshare, A; Algaze, C; Connor, B; Kim, A; Yutzey, K; Miller, E; Weaver, KN; Collins, T. OP023: A clinical scoring system for early onset (neonatal) Marfan syndrome. Genetics in Medicine. 2022; 24:s353.

Weaver, KN; Sullivan, BR; Balow, SA; Hopkin, S; Chini, BA; Pan, BS; Stottmann, RW; Bender, PL; Hopkin, RJ; Zhang, X; Saal, HM. 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; Gorman, GS; Falkenberg, M; Gustafsson, CM; Taylor, RW. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nature Communications. 2021; 12:1135.

Ehsan, Z; Weaver, KN; Pan, BS; Huang, G; Hossain, MM; Simakajornboon, N. 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; Pagnamenta, AT; Van Laer, L; Loeys, BL; Verstraeten, A. 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; Tretter, JT. Rotational Position of the Aortic Root is Associated with Increased Aortic Dimensions in Marfan and Loeys-Dietz Syndrome. Pediatric Cardiology. 2021; 42:1157-1161.

Baker, E; Weaver, KN; Hopkin, R. eP219 Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. Molecular Genetics and Metabolism. 2021; 132:s141.

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.