共 50 条
- [1] De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeNATURE GENETICS, 2011, 43 (08) : 729 - 731Hoischen, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlandsvan Bon, Bregje W. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsRodriguez-Santiago, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Barcelona, Spain CIBERER, Barcelona, Spain Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsVissers, Lisenka E. L. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlandsde Vries, Petra论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsJanssen, Irene论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlandsvan Lier, Bart论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsHastings, Rob论文数: 0 引用数: 0 h-index: 0机构: St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsSmithson, Sarah F.论文数: 0 引用数: 0 h-index: 0机构: St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsNewbury-Ecob, Ruth论文数: 0 引用数: 0 h-index: 0机构: St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsKjaergaard, Susanne论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Univ Copenhagen Hosp, Dept Clin Genet, Copenhagen, Denmark Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsGoodship, Judith论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsMcGowan, Ruth论文数: 0 引用数: 0 h-index: 0机构: Yorkhill Hosp, Dept Med Genet, Glasgow, Lanark, Scotland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsBartholdi, Deborah论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands论文数: 引用数: h-index:机构:Peippo, Maarit论文数: 0 引用数: 0 h-index: 0机构: Family Federat Finland, Dept Med Genet, Helsinki, Finland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsCobben, Jan M.论文数: 0 引用数: 0 h-index: 0机构: Emma Kinderziekenhuis Acad Med Ctr AMC, Dept Pediat Genet, Amsterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Essen, Inst Humangenet, Essen, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsGillessen-Kaesbach, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Humangenet Lubeck, Lubeck, Germany Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsVeltman, Joris A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsBrunner, Han G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlandsde Vries, Bert B. B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
- [2] Two Novel Patients With Bohring-Opitz Syndrome Caused by De Novo ASXL1 MutationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) : 917 - 921Magini, Pamela论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dipartimento Sci Ginecol Ostetr & Pediat, UO Genet Med, Policlin St Orsola Malpighi, I-40138 Bologna, Italy Univ Bologna, Dipartimento Sci Ginecol Ostetr & Pediat, UO Genet Med, Policlin St Orsola Malpighi, I-40138 Bologna, ItalyDella Monica, Matteo论文数: 0 引用数: 0 h-index: 0机构: AORN G Rummo, UOC Genet Med, Benevento, Italy Univ Bologna, Dipartimento Sci Ginecol Ostetr & Pediat, UO Genet Med, Policlin St Orsola Malpighi, I-40138 Bologna, ItalyUzielli, Maria Luisa Giovannucci论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dipartimento Pediat, Florence, Italy Univ Bologna, Dipartimento Sci Ginecol Ostetr & Pediat, UO Genet Med, Policlin St Orsola Malpighi, I-40138 Bologna, ItalyMongelli, Patrizia论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dipartimento Sci Ginecol Ostetr & Pediat, UO Genet Med, Policlin St Orsola Malpighi, I-40138 Bologna, Italy Univ Bologna, Dipartimento Sci Ginecol Ostetr & Pediat, UO Genet Med, Policlin St Orsola Malpighi, I-40138 Bologna, ItalyScarselli, Gloria论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Scuola Specializzaz Neuropsichiatria Infantile, Florence, Italy Univ Bologna, Dipartimento Sci Ginecol Ostetr & Pediat, UO Genet Med, Policlin St Orsola Malpighi, I-40138 Bologna, Italy论文数: 引用数: h-index:机构:Scarano, Gioacchino论文数: 0 引用数: 0 h-index: 0机构: AORN G Rummo, UOC Genet Med, Benevento, Italy Univ Bologna, Dipartimento Sci Ginecol Ostetr & Pediat, UO Genet Med, Policlin St Orsola Malpighi, I-40138 Bologna, Italy论文数: 引用数: h-index:机构:
- [3] De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeNature Genetics, 2011, 43 : 729 - 731Alexander Hoischen论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsBregje W M van Bon论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsBenjamín Rodríguez-Santiago论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsChristian Gilissen论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsLisenka E L M Vissers论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsPetra de Vries论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsIrene Janssen论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsBart van Lier论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsRob Hastings论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsSarah F Smithson论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsRuth Newbury-Ecob论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsSusanne Kjaergaard论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsJudith Goodship论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsRuth McGowan论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsDeborah Bartholdi论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsAnita Rauch论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsMaarit Peippo论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsJan M Cobben论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsDagmar Wieczorek论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsGabriele Gillessen-Kaesbach论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsJoris A Veltman论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsHan G Brunner论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human GeneticsBert B B A de Vries论文数: 0 引用数: 0 h-index: 0机构: Radboud University Nijmegen Medical Centre,Department of Human Genetics
- [4] Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndromeEUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (03)Zhao, Jianbo论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R ChinaHou, Yanqi论文数: 0 引用数: 0 h-index: 0机构: Running Gene Inc, Beijing 100083, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R ChinaFang, Fang论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R ChinaDing, Changhong论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R ChinaYang, Xinying论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R ChinaLi, Jiuwei论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R ChinaCui, Di论文数: 0 引用数: 0 h-index: 0机构: Running Gene Inc, Beijing 100083, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R ChinaCao, Zhenhua论文数: 0 引用数: 0 h-index: 0机构: Running Gene Inc, Beijing 100083, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R ChinaZhang, Hao论文数: 0 引用数: 0 h-index: 0机构: Running Gene Inc, Beijing 100083, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Neurol, Xicheng 100045, Peoples R China
- [5] A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndromeCLINICAL DYSMORPHOLOGY, 2016, 25 (03) : 101 - 105Arunachal, Gautham论文数: 0 引用数: 0 h-index: 0机构: MGR Univ, Dept Clin Genet, Christian Med Coll, Vellore, Tamil Nadu, India MGR Univ, Dept Clin Genet, Christian Med Coll, Vellore, Tamil Nadu, IndiaDanda, Sumita论文数: 0 引用数: 0 h-index: 0机构: MGR Univ, Dept Clin Genet, Christian Med Coll, Vellore, Tamil Nadu, India MGR Univ, Dept Clin Genet, Christian Med Coll, Vellore, Tamil Nadu, IndiaOmprakash, Sabita论文数: 0 引用数: 0 h-index: 0机构: MGR Univ, Dept Clin Genet, Christian Med Coll, Vellore, Tamil Nadu, India MGR Univ, Dept Clin Genet, Christian Med Coll, Vellore, Tamil Nadu, IndiaKumar, Sathish论文数: 0 引用数: 0 h-index: 0机构: MGR Univ, Dept Paediat, Christian Med Coll, Vellore, Tamil Nadu, India MGR Univ, Dept Clin Genet, Christian Med Coll, Vellore, Tamil Nadu, India
- [6] Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor SurveillanceAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (09) : 2122 - 2131Russell, Bianca论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAJohnston, Jennifer J.论文数: 0 引用数: 0 h-index: 0机构: NIH, Natl Human Genome Res Inst, Bethesda, MD 20892 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USABiesecker, Leslie G.论文数: 0 引用数: 0 h-index: 0机构: NIH, Natl Human Genome Res Inst, Bethesda, MD 20892 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAKramer, Nancy论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Cedars Sinai Med Ctr, Inst Med Genet, Div Med Genet,Harbor UCLA Med Ctr,David Geffen Sc, Los Angeles, CA 90048 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAPickart, Angela论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Wisconsin, Med Genet Sect, Milwaukee, WI 53201 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USARhead, William论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Wisconsin, Med Genet Sect, Milwaukee, WI 53201 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USATan, Wen-Hann论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USABrownstein, Catherine A.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAClarkson, L. Kate论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Columbia, SC USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USADobson, Amy论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Columbia, SC USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USARosenberg, Avi Z.论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, Pathol Lab, Bethesda, MD 20892 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAVergano, Samantha A. Schrier论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAHelm, Benjamin M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAHarrison, Rachel E.论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp Trust, Clin Genet Serv, Nottingham, England Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAGraham, John M., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Cedars Sinai Med Ctr, Inst Med Genet, Div Med Genet,Harbor UCLA Med Ctr,David Geffen Sc, Los Angeles, CA 90048 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA
- [7] Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic motherAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (05) : 1249 - 1252Bedoukian, Emma论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Philadelphia, PA 19104 USACopenheaver, Deborah论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Philadelphia, PA 19104 USABale, Sherri论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Philadelphia, PA 19104 USADeardorff, Matthew论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Philadelphia, PA 19104 USA
- [8] A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature ReviewFRONTIERS IN PEDIATRICS, 2021, 9Zhao, Weiqing论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Dept Pediat, Guiyang, Peoples R China Guizhou Prov Peoples Hosp, Dept Pediat, Guiyang, Peoples R ChinaHu, Xiao论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Dept Neurol, Guiyang, Peoples R China Guizhou Prov Peoples Hosp, Dept Pediat, Guiyang, Peoples R ChinaLiu, Ye论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Dept Otolaryngol, Guiyang, Peoples R China Guizhou Prov Peoples Hosp, Dept Pediat, Guiyang, Peoples R ChinaWang, Xike论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Dept Pediat, Guiyang, Peoples R China Guizhou Prov Peoples Hosp, Dept Pediat, Guiyang, Peoples R ChinaChen, Yun论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Dept Pediat, Guiyang, Peoples R China Guizhou Prov Peoples Hosp, Dept Pediat, Guiyang, Peoples R ChinaWang, Yangyang论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Dept Gynecol, Guiyang, Peoples R China Guizhou Prov Peoples Hosp, Dept Pediat, Guiyang, Peoples R ChinaZhou, Hao论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Dept Pediat, Guiyang, Peoples R China Guizhou Prov Peoples Hosp, Dept Pediat, Guiyang, Peoples R China
- [9] Truncating ASXL1 mutations in Bohring-Opitz Syndrome cause epigenetically driven upregulation of Wnt signalingEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 38 - 39Lin, Isabella论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USA Univ Calif Los Angeles, Med Sci Training Program, Los Angeles, CA USA Univ Calif Los Angeles, Human Genet, Los Angeles, CA USA Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USAWei, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USA Univ Calif Los Angeles, Human Genet, Los Angeles, CA USA Univ Calif Los Angeles, Computat Med, Los Angeles, CA USA Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USAAwamleh, Zain论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USASingh, Meghna论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USA Univ Calif Los Angeles, Human Genet, Los Angeles, CA USA Univ Calif Los Angeles, Computat Med, Los Angeles, CA USA Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USANing, Aileen论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USA Univ Calif Los Angeles, Human Genet, Los Angeles, CA USA Univ Calif Los Angeles, Computat Med, Los Angeles, CA USA Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USAHerrera, Analeyla论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USA Univ Calif Los Angeles, Human Genet, Los Angeles, CA USA Univ Calif Los Angeles, Computat Med, Los Angeles, CA USA Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USARussell, Bianca论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Med Genet, Los Angeles, CA USA Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USAWeksberg, Rosanna论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada Univ Toronto, Med Sci & Mol Genet, Toronto, ON, Canada Hosp Sick Children, Clin & Metab Genet, Toronto, ON, Canada Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USAArboleda, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USA Univ Calif Los Angeles, Human Genet, Los Angeles, CA USA Univ Calif Los Angeles, Computat Med, Los Angeles, CA USA Univ Calif Los Angeles, Pathol & Lab Med, Los Angeles, CA USA
- [10] Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulationJCI INSIGHT, 2023, 8 (10)Lin, Isabella论文数: 0 引用数: 0 h-index: 0机构: UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA USA UCLA, Dept Computat Med, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USAWei, Angela论文数: 0 引用数: 0 h-index: 0机构: UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA USA UCLA, Dept Computat Med, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USAAwamleh, Zain论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Genome Biol Program, Dept Genet, Toronto, ON, Canada UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USASingh, Meghna论文数: 0 引用数: 0 h-index: 0机构: UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA USA UCLA, Dept Computat Med, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USANing, Aileen论文数: 0 引用数: 0 h-index: 0机构: UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA USA UCLA, Dept Computat Med, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USAHerrera, Analeyla论文数: 0 引用数: 0 h-index: 0机构: UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA USA UCLA, Dept Computat Med, Los Angeles, CA USA UCLA, Interdept BioInformat Program, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USARussell, Bianca E.论文数: 0 引用数: 0 h-index: 0机构: UCLA, Div Genet, Dept Pediat, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USAWeksberg, Rosanna论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Res Inst, Genome Biol Program, Dept Genet, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Inst Med Sci, Dept Mol Genet, Toronto, ON, Canada UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USAArboleda, Valerie A.论文数: 0 引用数: 0 h-index: 0机构: UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA UCLA, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA USA UCLA, Dept Computat Med, Los Angeles, CA USA UCLA, Interdept BioInformat Program, Los Angeles, CA USA UCLA, Mol Biol Inst, Los Angeles, CA USA UCLA, Jonsson Comprehens Canc Ctr, Los Angeles, CA USA 615 Charles E Young Dr South, Los Angeles, CA 90095 USA UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USAREACH Biobank and Registry论文数: 0 引用数: 0 h-index: 0机构: UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA