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

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

UBR5基因杂合变异会导致一种神经发育综合征,表现为发育迟缓、自闭症和智力障碍。

Sabeh, Pascale; Dumas, Samantha A; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Ait Mouhoub, Tarik; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M; Lesieur-Sebellin, Marion; Baujat, Geneviève; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, André; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A; Briere, Lauren C; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E; Parker, J Alex; Burnett, Barrington G; Campeau, Philippe M

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

全基因组测序与遗传疾病的临床诊断:CAUSES 研究

Elliott, Alison M; Adam, Shelin; du Souich, Christèle; Lehman, Anna; Nelson, Tanya N; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J; Patel, Millan S; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

TLK2基因的新生突变和遗传性功能丧失变异:一种独特神经发育障碍的临床和基因型-表型评估

Reijnders, Margot R F; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline A C; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B A; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A L; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W E; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P A; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M A; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen R F; Mathijssen, Irene M J; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew O M

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

新生CCND2基因突变导致细胞周期蛋白D2稳定,引起巨脑畸形-多小脑回畸形-多指畸形-脑积水综合征。

Ghayda Mirzaa # ,David A Parry # ,Andrew E Fry # ,Kristin A Giamanco # ,Jeremy Schwartzentruber ,Megan Vanstone ,Clare V Logan ,Nicola Roberts ,Colin A Johnson ,Shawn Singh ,Stanislav S Kholmanskikh ,Carissa Adams ,Rebecca D Hodge ,Robert F Hevner ,David T Bonthron ,Kees P J Braun ,Laurence Faivre ,Jean-Baptiste Rivière ,Judith St-Onge ,Karen W Gripp ,Grazia Ms Mancini ,Ki Pang ,Elizabeth Sweeney ,Hilde van Esch ,Nienke Verbeek ,Dagmar Wieczorek ,Michelle Steinraths ,Jacek Majewski ,Daniela T Pilz ,M Elizabeth Ross ,William B Dobyns ,Eamonn G Sheridan

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

6例10p12p11区域部分重叠间质缺失患者的基因组和临床特征

Wentzel, Christian; Rajcan-Separovic, Evica; Ruivenkamp, Claudia A L; Chantot-Bastaraud, Sandra; Metay, Corinne; Andrieux, Joris; Annerén, Göran; Gijsbers, Antoinet C J; Druart, Luc; Hyon, Capucine; Portnoi, Marie-France; Stattin, Eva-Lena; Vincent-Delorme, Catherine; Kant, Sarina G; Steinraths, Michelle; Marlin, Sandrine; Giurgea, Irina; Thuresson, Ann-Charlotte

Canadian College of Medical Geneticists guidelines for the indications, analysis, and reporting of cancer specimens

加拿大医学遗传学家学院关于癌症标本的适应症、分析和报告的指南

Dawson, A J; McGowan-Jordan, J; Chernos, J; Xu, J; Lavoie, J; Wang, J C; Steinraths, M; Shetty, S