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Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review 常染色体显性遗传模式重新定义了Myhre综合征的生殖咨询：一项新的家系和文献综述 Brand, Maggie R.; Vanbelleghem, Eva; Kay, Alison C.; Goriely, Anne; Demir, Senol; Hulick, Peter J.; Prindeville, Breanne; Wong, Ashley W.; Callewaert, Bert; Lin, Angela E. 分享 收藏
Validation of GenProb-T1D and its clinical utility for differentiating types of diabetes in a biobank from a US healthcare system Billings, Liana K.; Shi, Zhuqing; Mulford, Ashley J.; Wei, Jun; Tran, Huy; Ashworth, Annabelle; Zheng, S. Lilly; Dunnenberger, Henry M.; Hulick, Peter J.; Sanders, Alan R.; Xu, Jianfeng 分享 收藏
Cancer-associated thrombosis by cancer sites and inherited factors in a prospective population-based cohort Shi, Zhuqing; Wei, Jun; Rifkin, Andrew S.; Wang, Chi-Hsiung; Billings, Liana K.; Woo, Jonathan S. H.; Talamonti, Mark S.; Vogel, Tilley Jenkins; Moore, Elena; Brockstein, Bruce E.; Khandekar, Janardan D.; Dunnenberger, Henry M.; Hulick, Peter J.; Duggan, David; Zheng, S. Lilly; Lee, Cheong Jun; Helfand, Brian T.; Tafur, Alfonso J.; Xu, Jianfeng 分享 收藏
Utility of Polygenic Scores for Differentiating Diabetes Diagnosis Among Patients With Atypical Phenotypes of Diabetes 多基因评分在非典型糖尿病患者中区分糖尿病诊断的效用 Billings, Liana K.; Shi, Zhuqing; Wei, Jun; Rifkin, Andrew S.; Zheng, S. Lilly; Helfand, Brian T.; Ilbawi, Nadim; Dunnenberger, Henry M.; Hulick, Peter J.; Qamar, Arman; Xu, Jianfeng 分享 收藏
Refining Risk for Alzheimer's Disease Among Heterozygous APOE ε4 Carriers 细化杂合apoeε4携带者患阿尔茨海默病的风险 Patel, Smita; Wei, Jun; Shi, Zhuqing; Rifkin, Andrew S.; Zheng, S. Lilly; Gelfman, Elizabeth; Duggan, David; Helfand, Brian T.; Hulick, Peter J.; Xu, Jianfeng 分享 收藏
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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2 卵巢癌病理特征是BRCA1和BRCA2变异致病性的预测因子 O'Mahony, Denise G.; Ramus, Susan J.; Southey, Melissa C.; Meagher, Nicola S.; Hadjisavvas, Andreas; John, Esther M.; Hamann, Ute; Imyanitov, Evgeny N.; Andrulis, Irene L.; Sharma, Priyanka; Daly, Mary B.; Hake, Christopher R.; Weitzel, Jeffrey N.; Jakubowska, Anna; Godwin, Andrew K.; Arason, Adalgeir; Bane, Anita; Simard, Jacques; Soucy, Penny; Caligo, Maria A.; Mai, Phuong L.; Claes, Kathleen B. M.; Teixeira, Manuel R.; Chung, Wendy K.; Lazaro, Conxi; Hulick, Peter J.; Toland, Amanda E.; Pedersen, Inge Sokilde; Neuhausen, Susan L.; Vega, Ana; de la Hoya, Miguel; Nevanlinna, Heli; Dhawan, Mallika; Zampiga, Valentina; Danesi, Rita; Varesco, Liliana; Gismondi, Viviana; Vellone, Valerio Gaetano; James, Paul A.; Janavicius, Ramunas; Nikitina-Zake, Liene; Nielsen, Finn Cilius; van Overeem Hansen, Thomas; Pejovic, Tanja; Borg, Ake; Rantala, Johanna; Offit, Kenneth; Montagna, Marco; Nathanson, Katherine L.; Domchek, Susan M.; Osorio, Ana; Garcia, Maria J.; Karlan, Beth Y.; De Fazio, Anna; Bowtell, David; McGuffog, Lesley; Leslie, Goska; Parsons, Michael T.; Doerk, Thilo; Speith, Lisa-Marie; dos Santos, Elizabeth Santana; da Costa, Alexandre Andre B. A.; Radice, Paolo; Peterlongo, Paolo; Papi, Laura; Engel, Christoph; Hahnen, Eric; Schmutzler, Rita K.; Wappenschmidt, Barbara; Easton, Douglas F.; Tischkowitz, Marc; Singer, Christian F.; Tan, Yen Yen; Whittemore, Alice S.; Sieh, Weiva; Brenton, James D.; Yannoukakos, Drakoulis; Fostira, Florentia; Konstantopoulou, Irene; Soukupova, Jana; Vocka, Michal; Chenevix-Trench, Georgia; Pharoah, Paul D. P.; Antoniou, Antonis C.; Goldgar, David E.; Spurdle, Amanda B.; Michailidou, Kyriaki; Mourits, Marian J. E.; Lesueur, Fabienne 分享 收藏
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Reliability of Ancestry-specific Prostate Cancer Genetic Risk Score in Four Racial and Ethnic Populations Shi, Zhuqing; Zhan, Jianan; Wei, Jun; Ladson-Gary, Skylar; Wang, Chi-Hsiung; Hulick, Peter J.; Zheng, S. Lilly; Cooney, Kathleen A.; Isaacs, William B.; Helfand, Brian T.; Koelsch, Bertram L.; Xu, Jianfeng 分享 收藏
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers 拷贝数变异可作为BRCA1/BRCA2致病变异携带者乳腺癌风险的调节剂 Hakkaart, Christopher; Pearson, John F.; Marquart, Louise; Dennis, Joe; Wiggins, George A. R.; Barnes, Daniel R.; Robinson, Bridget A.; Mace, Peter D.; Aittomaki, Kristiina; Andrulis, Irene L.; Arun, Banu K.; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Belhadj, Sami; Berger, Lieke; Blok, Marinus J.; Boonen, Susanne E.; Borde, Julika; Bradbury, Angela R.; Brunet, Joan; Buys, Saundra S.; Caligo, Maria A.; Campbell, Ian; Chung, Wendy K.; Claes, Kathleen B. M.; Collonge-Rame, Marie-Agnes; Cook, Jackie; Cosgrove, Casey; Couch, Fergus J.; Daly, Mary B.; Dandiker, Sita; Davidson, Rosemarie; de la Hoya, Miguel; de Putter, Robin; Delnatte, Capucine; Dhawan, Mallika; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M.; Donaldson, Alan; Eason, Jacqueline; Easton, Douglas F.; Ehrencrona, Hans; Engel, Christoph; Evans, D. Gareth; Faust, Ulrike; Feliubadalo, Lidia; Fostira, Florentia; Friedman, Eitan; Frone, Megan; Frost, Debra; Garber, Judy; Gayther, Simon A.; Gehrig, Andrea; Gesta, Paul; Godwin, Andrew K.; Goldgar, David E.; Greene, Mark H.; Hahnen, Eric; Hake, Christopher R.; Hamann, Ute; Hansen, Thomas V. O.; Hauke, Jan; Hentschel, Julia; Herold, Natalie; Honisch, Ellen; Hulick, Peter J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul A.; Janavicius, Ramunas; John, Esther M.; Joseph, Vijai; Karlan, Beth Y.; Kemp, Zoe; Kirk, Judy; Konstantopoulou, Irene; Koudijs, Marco; Kwong, Ava; Laitman, Yael; Lalloo, Fiona; Lasset, Christine; Lautrup, Charlotte; Lazaro, Conxi; Legrand, Clementine; Leslie, Goska; Lesueur, Fabienne; Mai, Phuong L.; Manoukian, Siranoush; Mari, Veronique; Martens, John W. M.; McGuffog, Lesley; Mebirouk, Noura; Meindl, Alfons; Miller, Austin; Montagna, Marco; Moserle, Lidia; Mouret-Fourme, Emmanuelle; Musgrave, Hannah; Nambot, Sophie; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Yie, Joanne Ngeow Yuen; Nguyen-Dumont, Tu; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Osorio, Ana; Ott, Claus-Eric; Park, Sue K.; Parsons, Michael T.; Pedersen, Inge Sokilde; Peixoto, Ana; Perez-Segura, Pedro; Peterlongo, Paolo; Pocza, Timea; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Rodriguez, Gustavo C.; Ronlund, Karina; Rosenberg, Efraim H.; Rossing, Maria; Schmutzler, Rita K.; Shah, Payal D.; Sharif, Saba; Sharma, Priyanka; Side, Lucy E.; Simard, Jacques; Singer, Christian F.; Snape, Katie; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R.; Teo, Soo Hwang; Thomassen, Mads; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Trainer, Alison H.; Tripathi, Vishakha; Tung, Nadine; van Engelen, Klaartje; van Rensburg, Elizabeth J.; Vega, Ana; Viel, Alessandra; Walker, Lisa; Weitzel, Jeffrey N.; Wevers, Marike R.; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Antoniou, Antonis C.; Walker, Logan C. 分享 收藏
Effect Modification by Social Determinants of Pharmacogenetic Medication Interactions on 90-Day Hospital Readmissions within an Integrated U.S. Healthcare System Saulsberry, Loren; Singh, Lavisha; Pruitt, Jaclyn; Ward, Christopher; Wake, Dyson T.; Gibbons, Robert D.; Meltzer, David O.; O'Donnell, Peter H.; Cruz-Knight, Wanda; Hulick, Peter J.; Dunnenberger, Henry M.; David, Sean P. 分享 收藏
Inherited risk assessment and its clinical utility for predicting prostate cancer from diagnostic prostate biopsies Xu, Jianfeng; Resurreccion, W. Kyle; Shi, Zhuqing; Wei, Jun; Wang, Chi-Hsiung; Zheng, S. Lilly; Hulick, Peter J.; Ross, Ashley E.; Pavlovich, Christian P.; Helfand, Brian T.; Isaacs, William B. 分享 收藏
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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study (vol 19, 199, 2021) Haverfield, Eden V.; Esplin, Edward D.; Aguilar, Sienna J.; Hatchell, Kathryn E.; Ormond, Kelly E.; Hanson-Kahn, Andrea; Atwal, Paldeep S.; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W. -M.; Tucker, Steven; Bleyl, Steven B.; Hulick, Peter J.; Gordon, Ora K.; Velsher, Lea; Gu, Jessica Y. J.; Weissman, Scott M.; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A.; Green, Robert C.; Aradhya, Swaroop; Nussbaum, Robert L. 分享 收藏
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant 基于313变异的多基因风险评分对具有杂合BRCA1或BRCA2致病变异的欧洲血统女性对侧乳腺癌风险预测的预测能力 Lakeman, Inge M. M.; van den Broek, Alexandra J.; Vos, Julien A. M.; Barnes, Daniel R.; Adlard, Julian; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K.; Balmana, Judith; Barrowdale, Daniel; Benitez, Javier; Borg, Ake; Caldes, Trinidad; Caligo, Maria A.; Chung, Wendy K.; Claes, Kathleen B. M.; Collee, J. Margriet; Couch, Fergus J.; Daly, Mary B.; Dennis, Joe; Dhawan, Mallika; Domchek, Susan M.; Eeles, Ros; Engel, Christoph; Evans, D. Gareth; Feliubadalo, Lidia; Foretova, Lenka; Friedman, Eitan; Frost, Debra; Ganz, Patricia A.; Garber, Judy; Gayther, Simon A.; Gerdes, Anne-Marie; Godwin, Andrew K.; Goldgar, David E.; Hahnen, Eric; Hake, Christopher R.; Hamann, Ute; Hogervorst, Frans B. L.; Hooning, Maartje J.; Hopper, John L.; Hulick, Peter J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Izatt, Louise; Jakubowska, Anna; James, Paul A.; Janavicius, Ramunas; Jensen, Uffe Birk; Jiao, Yue; John, Esther M.; Joseph, Vijai; Karlan, Beth Y.; Kets, Carolien M.; Konstantopoulou, Irene; Kwong, Ava; Legrand, Clementine; Leslie, Goska; Lesueur, Fabienne; Loud, Jennifer T.; Lubinski, Jan; Manoukian, Siranoush; McGuffog, Lesley; Miller, Austin; Gomes, Denise Molina; Montagna, Marco; Mouret-Fourme, Emmanuelle; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Yie, Joanne Ngeow Yuen; Olah, Edith; Olopade, Olufunmilayo I.; Park, Sue K.; Parsons, Michael T.; Peterlongo, Paolo; Piedmonte, Marion; Radice, Paolo; Rantala, Johanna; Rennert, Gad; Risch, Harvey A.; Schmutzler, Rita K.; Sharma, Priyanka; Simard, Jacques; Singer, Christian F.; Stadler, Zsofia; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R.; Teo, Soo Hwang; Teule, Alex; Thomassen, Mads; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Tung, Nadine; van Rensburg, Elizabeth J.; Vega, Ana; Wappenschmidt, Barbara; Devilee, Peter; van Asperen, Christi J.; Bernstein, Jonine L.; Offit, Kenneth; Easton, Douglas F.; Rookus, Matti A.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Robson, Mark; Schmidt, Marjanka K. 分享 收藏
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