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Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes

机译：具有严重精神疾病的家庭中的exome测序识别在孟德尔神经精神综合征的基因中的新颖和罕见的变体

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Suhas Ganesh; Ahmed P Husayn; Ravi Kumar Nadella; Ravi Prabhakar More; Manasa Sheshadri; Biju Viswanath; Mahendra Rao; Sanjeev Jain; Odity Mukherjee;
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1. Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes [J] . Suhas Ganesh, Husayn Ahmed P., Ravi K. Nadella, Psychiatry and clinical neurosciences . 2019,第1a2期

机译：具有严重精神疾病的家庭中的exome测序识别涉及孟德尔神经精神学综合征的基因的新颖和罕见的变体
2. Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral Clefts [J] . Alan F. Scott, Alexandre Bureau, Cheryl D. Cropp, Genetics: A Periodical Record of Investigations Bearing on Heredity and Variation . 2014,第3期

机译：多重家族中远亲的整个外显子组测序表明口腔裂候选基因的稀有变异。
3. Molecular basis of a linkage peak: exome sequencing and family-based analysis identify a rare genetic variant in the ADIPOQ gene in the IRAS Family Study. [J] . Bowden DW, An SS, Palmer ND, Human Molecular Genetics . 2010,第20期

机译：连锁峰的分子基础：外显子组测序和基于家族的分析在IRAS家族研究中确定了ADIPOQ基因中的罕见遗传变异。
4. Whole Exome Sequencing Approach to Identify Genetic Variants Causing Sudden Unexplained Death Syndrome [C] . Seok-Hwee Koo, Paul Chui, Chee Seng Ku, Molecular Medicine TRI-CON. . 2014

机译：识别遗传变异突然未解释的死亡综合征的整体exome测序方法
5. Identify novel variants by selective sequencing of mitochondria associated genes from eight genetic hypertension families [D] . Gao, Yunpeng. 2015

机译：通过选择性测序来自八个遗传性高血压家族的线粒体相关基因来鉴定新的变异
6. Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral Clefts [O] . Alexandre Bureau, Margaret M. Parker, Ingo Ruczinski, 2014

机译：多重家庭中远亲的整个外显子组测序表明口腔裂候选基因的稀有变异。
7. Identification of ultra-rare genetic variants in Pediatric Acute Onset Neuropsychiatric Syndrome (PANS) by exome and whole genome sequencing [O] . Rosario Trifiletti, Herbert M. Lachman, Olivia Manusama, 2021

机译：外壳和全基因组测序鉴定小儿急性发作神经精神综合征（PANS）中的超稀有遗传变异

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes

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