日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Working together: development of a genetic counselling curriculum in a medical genetics residency training program

共同努力:在医学遗传学住院医师培训项目中开发遗传咨询课程

Castle, Alison M R; Goldsmith, Claire; Lazier, Joanna

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists

遗传疾病的生殖携带者筛查:加拿大医学遗传学家学会的立场声明

Aul, Ritu B; Canales, Karen Elizabeth; De Bie, Isabelle; Laberge, Anne-Marie; Langlois, Sylvie; Nelson, Tanya N; Walji, Sakina; Yu, Andrea C; Lazier, Joanna

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

对 EHMT1 变异体的全面分析拓宽了 Kleefstra 综合征的基因型-表型关联和分子机制。

Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske

Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome

Burosumab 用于治疗皮肤骨骼低磷血症综合征

Abebe, Lillian; Phung, Kim; Robinson, Marie-Eve; Waldner, Richelle; Carsen, Sasha; Smit, Kevin; Tice, Andrew; Lazier, Joanna; Armour, Christine; Page, Marika; Dover, Saunya; Rauch, Frank; Koujok, Khaldoun; Ward, Leanne M

From "ACAN" to "I CAN": Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management

从“ACAN”到“I CAN”:通过精准诊断结合最佳的内科、外科和康复管理,帮助一名患有严重骨软骨炎的男孩恢复健康。

Ochoa, Maria; Yang, Ashlee; Kollias, Carrie; Bakir, Christina; Carsen, Sasha; Lazier, Joanna; Innes, A Micheil; Pagé, Marika; Dawrant, Jonathan; Robinson, Marie-Eve; Koujok, Khaldoun; Shenouda, Nazih; Rauch, Frank; Ward, Leanne M

Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report

全面细胞基因组学检查在父母携带小型新着丝粒超数环状染色体的妊娠结局中的作用:病例报告

Wang, Yiming; Lazier, Joanna; Myles-Reid, Diane; Noor, Abdul; Chitayat, David; Greenfeld, Elena

Expanding the phenotypic spectrum of ARCN1-related syndrome

扩展ARCN1相关综合征的表型谱

Ritter, Alyssa L; Gold, Jessica; Hayashi, Hiroshi; Ackermann, Amanda M; Hanke, Stephanie; Skraban, Cara; Cuddapah, Sanmati; Bhoj, Elizabeth; Li, Dong; Kuroda, Yukiko; Wen, Jessica; Takeda, Ryojun; Bibb, Audrey; El Chehadeh, Salima; Piton, Amélie; Ohl, Jeanine; Kukolich, Mary K; Nagasaki, Keisuke; Kato, Kohji; Ogi, Tomoo; Bhatti, Tricia; Russo, Pierre; Krock, Bryan; Murrell, Jill R; Sullivan, Jennifer A; Shashi, Vandana; Stong, Nicholas; Hakonarson, Hakon; Sawano, Kentaro; Torti, Erin; Willaert, Rebecca; Si, Yue; Wilcox, William Ross; Wirgenes, Katrine Verena; Thomassen, Kristian; Carlotti, Katherine; Erwin, Angelika; Lazier, Joanna; Marquardt, Thorsten; He, Miao; Edmondson, Andrew C; Izumi, Kosuke

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience

下一代测序时代下的产前基因检测:加拿大一家中心的经验

Almubarak, Asra; Zhang, Dan; Kosak, Mackenzie; Rathwell, Sarah; Doonanco, Jasmine; Eaton, Alison J; Kannu, Peter; Lazier, Joanna; Lui, Monique; Niederhoffer, Karen Y; MacPherson, Melissa J; Sorsdahl, Melissa; Caluseriu, Oana

A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome

ATAD3A基因的剪接变异扩大了Harel-Yoon综合征的临床和遗传谱。

Hanes, Ilana; McMillan, Hugh J; Ito, Yoko; Kernohan, Kristin D; Lazier, Joanna; Lines, Matthew A; Dyment, David A

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis

SLC34A3/NPT2c基因突变与肾结石和肾钙质沉着症相关。

Dasgupta, Debayan; Wee, Mark J; Reyes, Monica; Li, Yuwen; Simm, Peter J; Sharma, Amita; Schlingmann, Karl-Peter; Janner, Marco; Biggin, Andrew; Lazier, Joanna; Gessner, Michaela; Chrysis, Dionisios; Tuchman, Shamir; Baluarte, H Jorge; Levine, Michael A; Tiosano, Dov; Insogna, Karl; Hanley, David A; Carpenter, Thomas O; Ichikawa, Shoji; Hoppe, Bernd; Konrad, Martin; Sävendahl, Lars; Munns, Craig F; Lee, Hang; Jüppner, Harald; Bergwitz, Clemens