Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
Bain, Jennifer M., Cho, Megan T., Telegrafi, Aida, Wilson, Ashley, Brooks, Susan, Botti, Christina, Gowans, Gordon, Autullo, Leigh Anne, Krishnamurthy, Vidya, Willing, Marcia C., Toler, Tomi L., Ben-Zev, Bruria, Elpeleg, Orly, Shen, Yufeng, Retterer, Kyle, Monaghan, Kristin G., Chung, Wendy K.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
Sustained Effect of Early Physical Activity on Body Fat Mass in Older Children
Janz, Kathleen F., EdD, Kwon, Soyang, MS, Letuchy, Elena M., MS, Eichenberger Gilmore, Julie M., PhD, Burns, Trudy L., MPH, PhD, Torner, James C., PhD, Willing, Marcia C., PhD, MD, Levy, Steven M., MPH, DDS
Published in American journal of preventive medicine (01.07.2009)
Published in American journal of preventive medicine (01.07.2009)
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Journal Article
Early physical activity provides sustained bone health benefits later in childhood
Janz, Kathleen F, Letuchy, Elena M, Eichenberger Gilmore, Julie M, Burns, Trudy L, Torner, James C, Willing, Marcia C, Levy, Steven M
Published in Medicine and science in sports and exercise (01.06.2010)
Published in Medicine and science in sports and exercise (01.06.2010)
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Journal Article
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype
van Meel, Eline, Wegner, Daniel J, Cliften, Paul, Willing, Marcia C, White, Frances V, Kornfeld, Stuart, Cole, F Sessions
Published in BMC medical genetics (08.10.2013)
Published in BMC medical genetics (08.10.2013)
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Journal Article
Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis
Haller, Gabe, Alvarado, David M, Willing, Marcia C, Braverman, Alan C, Bridwell, Keith H, Kelly, Michael, Lenke, Lawrence G, Luhmann, Scott J, Gurnett, Christina A, Dobbs, Matthew B
Published in Journal of bone and joint surgery. American volume (02.09.2015)
Published in Journal of bone and joint surgery. American volume (02.09.2015)
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Journal Article
Physical activity augments bone mineral accrual in young children: The Iowa Bone Development Study
Janz, Kathleen F., Gilmore, Julie M., Burns, Trudy L., Levy, Steven M., Torner, James C., Willing, Marcia C., Marshall, Teresa A.
Published in The Journal of pediatrics (01.06.2006)
Published in The Journal of pediatrics (01.06.2006)
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Journal Article
Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries
Eckert, Scott, Feingold, Eleanor, Cooper, Margaret, Vanyukov, Michael M, Maher, Brion S, Slayton, Rebecca L, Willing, Marcia C, Reis, Steven E, McNeil, Daniel W, Crout, Richard J, Weyant, Robert J, Levy, Steven M, Vieira, Alexandre R, Marazita, Mary L, Shaffer, John R
Published in Journal of human genetics (01.04.2017)
Published in Journal of human genetics (01.04.2017)
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Journal Article
The microcephaly‐capillary malformation syndrome
Mirzaa, Ghayda M., Paciorkowski, Alex R., Smyser, Christopher D., Willing, Marcia C., Lind, Anne C., Dobyns, William B.
Published in American journal of medical genetics. Part A (01.09.2011)
Published in American journal of medical genetics. Part A (01.09.2011)
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Journal Article
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25
HASHAM, Sumera N, WILLING, Marcia C, GUO, Dong-Chuan, MUILENBURG, Ann, RUMIN HE, TRAN, Van T, SCHERER, Steven E, SHETE, Sanjay S, MILEWICZ, Dianna M
Published in Circulation (New York, N.Y.) (01.07.2003)
Published in Circulation (New York, N.Y.) (01.07.2003)
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Journal Article
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Lovric, Svjetlana, Goncalves, Sara, Gee, Heon Yung, Oskouian, Babak, Srinivas, Honnappa, Choi, Won-Il, Shril, Shirlee, Ashraf, Shazia, Tan, Weizhen, Rao, Jia, Airik, Merlin, Schapiro, David, Braun, Daniela A, Sadowski, Carolin E, Widmeier, Eugen, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Girik, Vladimir, Capitani, Guido, Suh, Jung H, Lachaussée, Noëlle, Arrondel, Christelle, Patat, Julie, Gribouval, Olivier, Furlano, Monica, Boyer, Olivia, Schmitt, Alain, Vuiblet, Vincent, Hashmi, Seema, Wilcken, Rainer, Bernier, Francois P, Innes, A Micheil, Parboosingh, Jillian S, Lamont, Ryan E, Midgley, Julian P, Wright, Nicola, Majewski, Jacek, Zenker, Martin, Schaefer, Franz, Kuss, Navina, Greil, Johann, Giese, Thomas, Schwarz, Klaus, Catheline, Vilain, Schanze, Denny, Franke, Ingolf, Sznajer, Yves, Truant, Anne S, Adams, Brigitte, Désir, Julie, Biemann, Ronald, Pei, York, Ars, Elisabet, Lloberas, Nuria, Madrid, Alvaro, Dharnidharka, Vikas R, Connolly, Anne M, Willing, Marcia C, Cooper, Megan A, Lifton, Richard P, Simons, Matias, Riezman, Howard, Antignac, Corinne, Saba, Julie D, Hildebrandt, Friedhelm
Published in The Journal of clinical investigation (01.03.2017)
Published in The Journal of clinical investigation (01.03.2017)
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Journal Article
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome
Wambach, Jennifer A., Wegner, Daniel J., Patni, Nivedita, Kircher, Martin, Willing, Marcia C., Baldridge, Dustin, Xing, Chao, Agarwal, Anil K., Vergano, Samantha A. Schrier, Patel, Chirag, Grange, Dorothy K., Kenney, Amy, Najaf, Tasnim, Nickerson, Deborah A., Bamshad, Michael J., Cole, F. Sessions, Garg, Abhimanyu
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis
Buchan, Jillian G, Alvarado, David M, Haller, Gabe E, Cruchaga, Carlos, Harms, Matthew B, Zhang, Tianxiao, Willing, Marcia C, Grange, Dorothy K, Braverman, Alan C, Miller, Nancy H, Morcuende, Jose A, Tang, Nelson Leung-Sang, Lam, Tsz-Ping, Ng, Bobby Kin-Wah, Cheng, Jack Chun-Yiu, Dobbs, Matthew B, Gurnett, Christina A
Published in Human molecular genetics (01.10.2014)
Published in Human molecular genetics (01.10.2014)
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Journal Article
Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease
Guo, Dong-Chuan, Papke, Christina L., Tran-Fadulu, Van, Regalado, Ellen S., Avidan, Nili, Johnson, Ralph Jay, Kim, Dong H., Pannu, Hariyadarshi, Willing, Marcia C., Sparks, Elizabeth, Pyeritz, Reed E., Singh, Michael N., Dalman, Ronald L., Grotta, James C., Marian, Ali J., Boerwinkle, Eric A., Frazier, Lorraine Q., LeMaire, Scott A., Coselli, Joseph S., Estrera, Anthony L., Safi, Hazim J., Veeraraghavan, Sudha, Muzny, Donna M., Wheeler, David A., Willerson, James T., Yu, Robert K., Shete, Sanjay S., Scherer, Steven E., Raman, C.S., Buja, L. Maximilian, Milewicz, Dianna M.
Published in American journal of human genetics (15.05.2009)
Published in American journal of human genetics (15.05.2009)
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Journal Article
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism
Claire Hou, Ying-Chen, Evenson, Michael J., Corliss, Meagan M., Mahapatra, Lily, Aldawood, Ali, Carpentieri, David F., Chamlin, Sarah L., Kulungowski, Ann M., Madan-Khetarpal, Suneeta, Sebastian, Jessica, Pet, Mitchell A., Coughlin, Carrie C., Willing, Marcia C., Pearson, Gregory D., Setty, Bhuvana A., El-Haffaf, Zaki, Cottrell, Catherine E., Parikh, Bijal A., Krysiak, Kilannin, Schroeder, Molly C., Heusel, Jonathan W., Neidich, Julie A., Cao, Yang
Published in Genetics in medicine (01.03.2023)
Published in Genetics in medicine (01.03.2023)
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Journal Article
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
Rosano, Kristen K., Wegner, Daniel J., Shinawi, Marwan, Baldridge, Dustin, Bucelli, Robert C., Dahiya, Sonika, White, Frances V., Willing, Marcia C., McAllister, William, Taft, Ryan J., Bluske, Krista, Buchanan, Amanda, Cole, Francis Sessions, Wambach, Jennifer A.
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Journal Article
Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections
PANNU, Hariyadarshi, FADULU, Van Tran, SHETE, Sanjay, WILLING, Marcia C, RAMAN, C. S, MILEWICZ, Dianna M, CHANG, Jessica, LAFONT, Andrea, HASHAM, Sumera N, SPARKS, Elizabeth, GIAMPIETRO, Philip F, ZALESKI, Christina, ESTRERA, Anthony L, SAFI, Hazim J
Published in Circulation (New York, N.Y.) (26.07.2005)
Published in Circulation (New York, N.Y.) (26.07.2005)
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Journal Article
Effects of enamel matrix genes on dental caries are moderated by fluoride exposures
Shaffer, John R., Carlson, Jenna C., Stanley, Brooklyn O. C., Feingold, Eleanor, Cooper, Margaret, Vanyukov, Michael M., Maher, Brion S., Slayton, Rebecca L., Willing, Marcia C., Reis, Steven E., McNeil, Daniel W., Crout, Richard J., Weyant, Robert J., Levy, Steven M., Vieira, Alexandre R., Marazita, Mary L.
Published in Human genetics (01.02.2015)
Published in Human genetics (01.02.2015)
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Journal Article
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)
Keppler-Noreuil, Kim M., Adam, Margaret P., Welch, Judy, Muilenburg, Ann, Willing, Marcia C.
Published in American journal of medical genetics. Part A (01.05.2011)
Published in American journal of medical genetics. Part A (01.05.2011)
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Journal Article
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta
Pace, James M., Atkinson, Mary, Willing, Marcia C., Wallis, Gillian, Byers, Peter H.
Published in Human mutation (01.10.2001)
Published in Human mutation (01.10.2001)
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Journal Article
Fatness, Physical Activity, and Television Viewing in Children during the Adiposity Rebound Period: The Iowa Bone Development Study
Janz, Kathleen F., Levy, Steven M., Burns, Trudy L., Torner, James C., Willing, Marcia C., Warren, John J.
Published in Preventive medicine (01.12.2002)
Published in Preventive medicine (01.12.2002)
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Journal Article