A dyadic approach to the delineation of diagnostic entities in clinical genomics von Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

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TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosa... von Liu, Jiaqi, Wu, Nan, Yang, Nan, Takeda, Kazuki, Chen, Weisheng, Li, Weiyu, Du, Renqian, Liu, Sen, Zhou, Yangzhong, Zhang, Ling, Liu, Zhenlei, Zuo, Yuzhi, Zhao, Sen, Blank, Robert, Pehlivan, Davut, Dong, Shuangshuang, Zhang, Jianguo, Shen, Jianxiong, Si, Nuo, Wang, Yipeng, Liu, Gang, Li, Shugang, Zhao, Yanxue, Zhao, Hong, Chen, Yixin, Zhao, Yu, Song, Xiaofei, Hu, Jianhua, Lin, Mao, Tian, Ye, Yuan, Bo, Yu, Keyi, Niu, Yuchen, Yu, Bin, Li, Xiaoxin, Chen, Jia, Yan, Zihui, Zhu, Qiankun, Meng, Xiaolu, Chen, Xiaoli, Su, Jianzhong, Zhao, Xiuli, Wang, Xiaoyue, Ming, Yue, Li, Xiao, Raggio, Cathleen L., Zhang, Baozhong, Weng, Xisheng, Zhang, Shuyang, Zhang, Xue, Watanabe, Kota, Matsumoto, Morio, Jin, Li, Shen, Yiping, Sobreira, Nara L., Posey, Jennifer E., Giampietro, Philip F., Valle, David, Liu, Pengfei, Wu, Zhihong, Ikegawa, Shiro, Lupski, James R., Zhang, Feng, Qiu, Guixing

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A 20-year perspective on the International Fanconi Anemia Registry (IFAR) von Kutler, David I., Singh, Bhuvanesh, Satagopan, Jaya, Batish, Sat Dev, Berwick, Marianne, Giampietro, Philip F., Hanenberg, Helmut, Auerbach, Arleen D.

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The genetic landscape and clinical implications of vertebral anomalies in VACTERL association von Chen, Yixin, Liu, Zhenlei, Chen, Jia, Zuo, Yuzhi, Liu, Sen, Chen, Weisheng, Liu, Gang, Qiu, Guixing, Giampietro, Philip F, Wu, Nan, Wu, Zhihong

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An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Eso... von Solomon, Benjamin D., MD, Baker, Linda A., MD, Bear, Kelly A., DO, Cunningham, Bridget K., MD, Giampietro, Philip F., MD, PhD, Hadigan, Colleen, MD, Hadley, Donald W., MS, CGC, Harrison, Steven, BS, Levitt, Marc A., MD, Niforatos, Nickie, MD, Paul, Scott M., MD, Raggio, Cathleen, MD, Reutter, Heiko, MD, Warren-Mora, Nicole, MD

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50 Years Ago in The Journal of Pediatrics: Tolubtamide-Mediated Dysregulation of Apoptosis von Giampietro, Philip F

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50 Years Ago in The Journal of Pediatrics: Hand-Foot-Genital Syndrome and Its Multiple Genetic Mechanisms von Giampietro, Philip F

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Clinical geneticists' views of VACTERL/VATER association von Solomon, Benjamin D., Bear, Kelly A., Kimonis, Virginia, de Klein, Annelies, Scott, Daryl A., Shaw-Smith, Charles, Tibboel, Dick, Reutter, Heiko, Giampietro, Philip F.

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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28 von Friez, Michael J, Jones, Julie R, Clarkson, Katie, Lubs, Herbert, Abuelo, Dianne, Bier, Jo-Ann Blaymore, Pai, Shashidhar, Simensen, Richard, Williams, Charles, Giampietro, Philip F, Schwartz, Charles E, Stevenson, Roger E

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50 Years Ago in The Journal of Pediatrics: A Chromosome Survey of Unselected Live-Born Children with Congenital Abnormalities von Giampietro, Philip F

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50 Years Ago in The Journal of Pediatrics: A Chromosome Survey of 2400 Normal Newborn Infants von Giampietro, Philip F

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Abnormal vertebral segmentation and the notch signaling pathway in man von Turnpenny, Peter D., Alman, Ben, Cornier, Alberto S., Giampietro, Philip F., Offiah, Amaka, Tassy, Olivier, Pourquié, Olivier, Kusumi, Kenro, Dunwoodie, Sally

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A Pilot Study of Gene/Gene and Gene/Environment Interactions in Alzheimer Disease von Ghebranious, Nader, Mukesh, Bickol, Giampietro, Philip F, Glurich, Ingrid, Mickel, Susan F, Waring, Stephen C, McCarty, Catherine A

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Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review von Liu, Zhenlei, Liu, Jiaqi, Liu, Gang, Cao, Wenjian, Liu, Sen, Chen, Yixin, Zuo, Yuzhi, Chen, Weisheng, Chen, Jun, Zhang, Yu, Huang, Shishu, Qiu, Guixing, Giampietro, Philip F., Zhang, Feng, Wu, Zhihong, Wu, Nan

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Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections von 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

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Genetic Aspects of Congenital and Idiopathic Scoliosis von Giampietro, Philip F.

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Clinical genetics provider real-time workflow study von McPherson, Elizabeth, Zaleski, Christina, Benishek, Katrina, McCarty, Catherine A., Giampietro, Philip F., Reynolds, Kara, Rasmussen, Kristen

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Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16... von Giampietro, Philip F., Pourquie, Olivier, Raggio, Cathy, Ikegawa, Shiro, Turnpenny, Peter D., Gray, Ryan, Dunwoodie, Sally L., Gurnett, Christina A., Alman, Benjamin, Cheung, Kenneth, Kusumi, Kenro, Hadley‐Miller, Nancy, Wise, Carol A.

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TLE4 Is a Critical Mediator of Osteoblast and Runx2-Dependent Bone Development von Shin, Thomas H., Theodorou, Evangelos, Holland, Carl, Yamin, Rae'e, Raggio, Cathleen L., Giampietro, Philip F., Sweetser, David A.

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TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis von Wu, Nan, Ming, Xuan, Xiao, Jianqiu, Wu, Zhihong, Chen, Xiaoli, Shinawi, Marwan, Shen, Yiping, Yu, Guangju, Liu, Jiaqi, Xie, Hua, Gucev, Zoran S, Liu, Sen, Yang, Nan, Al-Kateb, Hussam, Chen, Jun, Zhang, Jian, Hauser, Natalie, Zhang, Ting, Tasic, Velibor, Liu, Pengfei, Su, Xinlin, Pan, Xuedong, Liu, Chunyu, Wang, Liwen, Shen, Joseph, Shen, Jianxiong, Chen, Yulin, Zhang, Ting, Zhang, Jianguo, Choy, Kwong Wai, Wang, Jun, Wang, Qiqi, Li, Shugang, Zhou, Weichen, Guo, Jin, Wang, Yipeng, Zhang, Cheng, Zhao, Hong, An, Yu, Zhao, Yu, Wang, Jiucun, Liu, Zhenlei, Zuo, Yuzhi, Tian, Ye, Weng, Xisheng, Sutton, V. Reid, Wang, Hongyan, Ming, Yue, Kulkarni, Shashikant, Zhong, Tao P, Giampietro, Philip F, Dunwoodie, Sally L, Cheung, Sau Wai, Zhang, Xue, Jin, Li, Lupski, James R, Qiu, Guixing, Zhang, Feng

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