Joo Wook Ahn Cytogenetics Department Guy's & St Thomas' NHS Foundation Trust Biography Publications Institution JoVE Articles Joo Wook Ahn has not added a biography. If you are Joo Wook Ahn and would like to personalize this page please email our Author Liaison for assistance. Publications CHD2 Haploinsufficiency is Associated with Developmental Delay, Intellectual Disability, Epilepsy and Neurobehavioural Problems Journal of Neurodevelopmental Disorders. 2014 | Pubmed ID: 24834135 A New Direction for Prenatal Chromosome Microarray Testing: Software-targeting for Detection of Clinically Significant Chromosome Imbalance Without Equivocal Findings PeerJ. 2014 | Pubmed ID: 24795849 Phenotypic Features in Patients with 15q11.2(BP1-BP2) Deletion: Further Delineation of an Emerging Syndrome American Journal of Medical Genetics. Part A. Aug, 2014 | Pubmed ID: 24715682 Disruption of the ASTN2/TRIM32 Locus at 9q33.1 is a Risk Factor in Males for Autism Spectrum Disorders, ADHD and Other Neurodevelopmental Phenotypes Human Molecular Genetics. May, 2014 | Pubmed ID: 24381304 NRXN1 Deletions Identified by Array Comparative Genome Hybridisation in a Clinical Case Series - Further Understanding of the Relevance of NRXN1 to Neurodevelopmental Disorders Journal of Molecular Psychiatry. 2013 | Pubmed ID: 25408897 BBGRE: Brain and Body Genetic Resource Exchange Database : the Journal of Biological Databases and Curation. 2013 | Pubmed ID: 24077841 Male-biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders PloS One. 2013 | Pubmed ID: 23637818 Array CGH As a First Line Diagnostic Test in Place of Karyotyping for Postnatal Referrals - Results from Four Years' Clinical Application for over 8,700 Patients Molecular Cytogenetics. 2013 | Pubmed ID: 23560982 自閉症スペクトラム障害におけるニューレキシン 3 座のまれな削除。 American Journal of Human Genetics. Jan, 2012 | Pubmed ID: 22209245 アレイ比較ゲノムハイブリダイゼーションによって検出された癌の素因遺伝子の予想外の所見:問題は何ですか? Journal of Medical Genetics. Aug, 2011 | Pubmed ID: 21429933 アレイCGHの結果の確認と継承を決定するためのMLPA Molecular Cytogenetics. 2010 | Pubmed ID: 20942916 ゲノムインバランスのための産後核型の場所の最初の行のテストとして、アレイ比較ゲノムハイブリダイゼーションの検証と実装 Molecular Cytogenetics. 2010 | Pubmed ID: 20398301 心臓中隔欠損と小頭症に関連付けられた近位22qにおける新規削除:症例報告 Molecular Cytogenetics. 2009 | Pubmed ID: 19239688 発達遅延及び/又は異形症患者における超顕微鏡的な染色体不均衡が脆弱Xのテストと核型分析のために特別に換算 Molecular Cytogenetics. 2008 | Pubmed ID: 18471307 MLPAを使用してSubtelomere不均衡の検出:検証、分析プロトコルの開発、および診断センターでのアプリケーション BMC Medical Genetics. 2007 | Pubmed ID: 17338807 Gammaherpesvirus Lytic Gene Expression As Characterized by DNA Array Journal of Virology. Jun, 2002 | Pubmed ID: 12021358 ゲノムコピー数変異体の検出のためのアレイ比較ゲノムハイブリダイゼーション(アレイCGH) Joo Wook Ahn1, Michael Coldwell2, Susan Bint2, Caroline Mackie Ogilvie1 1Cytogenetics Department, Guy's & St Thomas' NHS Foundation Trust, 2Cytogenetics Department, Viapath Analytics JoVE 51718 Biology
ゲノムコピー数変異体の検出のためのアレイ比較ゲノムハイブリダイゼーション(アレイCGH) Joo Wook Ahn1, Michael Coldwell2, Susan Bint2, Caroline Mackie Ogilvie1 1Cytogenetics Department, Guy's & St Thomas' NHS Foundation Trust, 2Cytogenetics Department, Viapath Analytics JoVE 51718 Biology