A dyadic approach to the delineation of diagnostic entities in clinical genomics
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.
Published in American journal of human genetics (07.01.2021)
Published in American journal of human genetics (07.01.2021)
Get full text
Journal Article
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association
Chen, Yixin, Liu, Zhenlei, Chen, Jia, Zuo, Yuzhi, Liu, Sen, Chen, Weisheng, Liu, Gang, Qiu, Guixing, Giampietro, Philip F, Wu, Nan, Wu, Zhihong
Published in Journal of Medical Genetics (01.07.2016)
Published in Journal of Medical Genetics (01.07.2016)
Get full text
Journal Article
Book Review
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
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
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
Get full text
Journal Article
An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Esophageal Atresia, Cardiac Anomalies, Renal Anomalies, and Limb Anomalies) Association
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
Published in The Journal of pediatrics (01.03.2014)
Published in The Journal of pediatrics (01.03.2014)
Get full text
Journal Article
A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
Kutler, David I., Singh, Bhuvanesh, Satagopan, Jaya, Batish, Sat Dev, Berwick, Marianne, Giampietro, Philip F., Hanenberg, Helmut, Auerbach, Arleen D.
Published in Blood (15.02.2003)
Published in Blood (15.02.2003)
Get full text
Journal Article
Clinical geneticists' views of VACTERL/VATER association
Solomon, Benjamin D., Bear, Kelly A., Kimonis, Virginia, de Klein, Annelies, Scott, Daryl A., Shaw-Smith, Charles, Tibboel, Dick, Reutter, Heiko, Giampietro, Philip F.
Published in American journal of medical genetics. Part A (01.12.2012)
Published in American journal of medical genetics. Part A (01.12.2012)
Get full text
Journal Article
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
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
Published in Pediatrics (Evanston) (01.12.2006)
Published in Pediatrics (Evanston) (01.12.2006)
Get more information
Journal Article
Abnormal vertebral segmentation and the notch signaling pathway in man
Turnpenny, Peter D., Alman, Ben, Cornier, Alberto S., Giampietro, Philip F., Offiah, Amaka, Tassy, Olivier, Pourquié, Olivier, Kusumi, Kenro, Dunwoodie, Sally
Published in Developmental dynamics (01.06.2007)
Published in Developmental dynamics (01.06.2007)
Get full text
Journal Article
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review
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
Published in Journal of international medical research (01.06.2018)
Published in Journal of international medical research (01.06.2018)
Get full text
Journal Article
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas
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.
Published in American journal of medical genetics. Part A (01.01.2018)
Published in American journal of medical genetics. Part A (01.01.2018)
Get full text
Journal Article
Conference Proceeding
TLE4 Is a Critical Mediator of Osteoblast and Runx2-Dependent Bone Development
Shin, Thomas H, Theodorou, Evangelos, Holland, Carl, Yamin, Rae'e, Raggio, Cathleen L, Giampietro, Philip F, Sweetser, David A
Published in Frontiers in cell and developmental biology (06.08.2021)
Published in Frontiers in cell and developmental biology (06.08.2021)
Get full text
Journal Article
Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans
Giampietro, Philip F., Dunwoodie, Sally L., Kusumi, Kenro, Pourquié, Olivier, Tassy, Olivier, Offiah, Amaka C., Cornier, Alberto S., Alman, Benjamin A., Blank, Robert D., Raggio, Cathleen L., Glurich, Ingrid, Turnpenny, Peter D.
Published in Annals of the New York Academy of Sciences (01.01.2009)
Published in Annals of the New York Academy of Sciences (01.01.2009)
Get full text
Journal Article
A novel locus for adolescent idiopathic scoliosis on chromosome 12p
Raggio, Cathleen L., Giampietro, Philip F., Dobrin, Seth, Zhao, Chengfeng, Dorshorst, Donna, Ghebranious, Nader, Weber, James L., Blank, Robert D.
Published in Journal of orthopaedic research (01.10.2009)
Published in Journal of orthopaedic research (01.10.2009)
Get full text
Journal Article
Clinical genetics provider real-time workflow study
McPherson, Elizabeth, Zaleski, Christina, Benishek, Katrina, McCarty, Catherine A., Giampietro, Philip F., Reynolds, Kara, Rasmussen, Kristen
Published in Genetics in medicine (01.09.2008)
Published in Genetics in medicine (01.09.2008)
Get full text
Journal Article