Investigation into the genetics of fetal congenital lymphatic anomalies von Rogerson, Daniella, Alkelai, Anna, Giordano, Jessica, Pantrangi, Madhulatha, Hsiao, Meng‐Chang, Nhan‐Chang, Chia‐Ling, Motelow, Joshua E., Aggarwal, Vimla, Goldstein, David, Wapner, Ron, Shawber, Carrie J.

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Risk Factors for Development of Acute Kidney Injury in Patients with Urinary Tract Infection von Hsiao, Chih-Yen, Yang, Huang-Yu, Hsiao, Meng-Chang, Hung, Peir-Haur, Wang, Ming-Cheng

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Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling von Chang, Yin-Hsi, Kang, Eugene Yu-Chuan, Liu, Laura, Jenny, Laura A, Khang, Rin, Seo, Go Hun, Lee, Hane, Chen, Kuan-Jen, Wu, Wei-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai

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Congenital Stationary Night Blindness: Clinical and Genetic Features von Kim, Angela H, Liu, Pei-Kang, Chang, Yin-Hsi, Kang, Eugene Yu-Chuan, Wang, Hung-Hsuan, Chen, Nelson, Tseng, Yun-Ju, Seo, Go Hun, Lee, Hane, Liu, Laura, Chao, An-Ning, Chen, Kuan-Jen, Hwang, Yih-Shiou, Wu, Wei-Chi, Lai, Chi-Chun, Tsang, Stephen H, Hsiao, Meng-Chang, Wang, Nan-Kai

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Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29 von Wang, Ethan Hung-Hsi, Lin, Pei-Hsuan, Wu, Pei-Liang, Kang, Eugene Yu-Chuan, Liu, Laura, Yeh, Lung-Kun, Chen, Kuan-Jen, Hsiao, Meng-Chang, Wang, Nan-Kai

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Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa von Chen, Nelson, Lee, Hane, Kim, Angela H, Liu, Pei-Kang, Kang, Eugene Yu-Chuan, Tseng, Yun-Ju, Seo, Go Hun, Khang, Rin, Liu, Laura, Chen, Kuan-Jen, Wu, We-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai

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Urolithiasis Is a Risk Factor for Uroseptic Shock and Acute Kidney Injury in Patients With Urinary Tract Infection von Hsiao, Chih-Yen, Chen, Tsung-Hsien, Lee, Yi-Chien, Hsiao, Meng-Chang, Hung, Peir-Haur, Chen, Yih-Yuan, Wang, Ming-Cheng

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Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene von Hsiao, Meng-Chang, Piotrowski, Arkadiusz, Alexander, John, Callens, Tom, Fu, Chuanhua, Mikhail, Fady M., Claes, Kathleen B.M., Messiaen, Ludwine

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Risk Factors for Development of Septic Shock in Patients with Urinary Tract Infection von Lee, Cheng-Chia, Yen, Tzung-Hai, Chen, Yung-Chang, Wu, Tzu-Chin, Liu, Su-Hsun, Hung, Peir-Haur, Hsiao, Meng-Chang, Wu, Chao-Yi, Lin, Hsing-Lin, Chang, Chih-Hsiang, Yang, Huang-Yu, Hsiao, Chih-Yen, Weng, Cheng-Hao

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Glycated Hemoglobin 6.5% Is Associated With Uroseptic Shock in Diabetic Patients With Urinary Tract Infection von Lee, Yi-Chien, Chen, Tsung-Hsien, Hsiao, Meng-Chang, Hung, Peir-Haur, Tung, Shao-Hsien, Hsiao, Chih-Yen

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Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders von Lin, Tzu-Yi, Wu, Pei-Liang, Kang, Eugene Yu-Chuan, Chi, Yi-Chun, Jenny, Laura A, Lin, Pei-Hsuan, Lee, Chia-Ying, Liu, Chun-Hsiu, Liu, Laura, Yeh, Lung-Kun, Chen, Kuan-Jen, Hwang, Yih-Shiou, Wu, Wei-Chi, Lai, Chi-Chun, Hsiao, Meng-Chang, Liu, Pei-Kang, Wang, Nan-Kai

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P611: Prenatal diagnosis of 6pter-p24 deletion syndrome in a fetus associated with multiple posterior fossa anomalies and an unexpected microarray result von Hsiao, Meng-Chang, Harkavy, Nina, Wapner, Ronald, Liao, Jun

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Decoding NF1 Intragenic Copy-Number Variations von Hsiao, Meng-Chang, Piotrowski, Arkadiusz, Callens, Tom, Fu, Chuanhua, Wimmer, Katharina, Claes, Kathleen B.M., Messiaen, Ludwine

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Molecular profiling of CNS tumors for the treatment and management of disease von Nie, Qian, Hsiao, Meng-Chang, Chandok, Harshpreet, Rowe, Shannon, Prego, Matthew, Meyers, Bridgette, Omerza, Gregory, Hesse, Andrew, Uvalic, Jasmina, Soucy, Melissa, Bergeron, Daniel, Peracchio, Michael, Burns, Shelbi, Kelly, Kevin, Rueter, Jens, Reddi, Honey V.

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Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients von Hsiao, Meng-Chang, Piotrowski, Arkadiusz, Poplawski, Andrzej Brunon, Callens, Tom, Fu, Chuanhua, Messiaen, Ludwine

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Molecular profiling of gynecologic cancers for treatment and management of disease – demonstrating clinical significance using the AMP/ASCO/CAP guidelines for interpretation and re... von Nie, Qian, Omerza, Gregory, Chandok, Harshpreet, Prego, Matthew, Hsiao, Meng-Chang, Meyers, Bridgette, Hesse, Andrew, Uvalic, Jasmina, Soucy, Melissa, Bergeron, Daniel, Peracchio, Michael, Burns, Shelbi, Kelly, Kevin, Rowe, Shannon, Rueter, Jens, Reddi, Honey V

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Mutation Yield of a Custom 212-Gene Next-Generation Sequencing Panel for Solid Tumors: Clinical Experience of the First 260 Cases Tested Using the JAX ActionSeq™ Assay von Selvam, Pavalan, Hsiao, Meng-Chang, Omerza, Gregory, Bergeron, Daniel, Rowe, Shannon, Uvalic, Jasmina, Soucy, Melissa, Peracchio, Michael, Burns, Shelbi, Meyers, Bridgette, Prego, Matthew, Nie, Qian, Ananda, Guruprasad, Chandok, Harshpreet, Kelly, Kevin, Hesse, Andrew, Reddi, Honey V.

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An online conserved SSR discovery through cross-species comparison von Pai, Tun-Wen, Chen, Chien-Ming, Hsiao, Meng-Chang, Cheng, Ronshan, Tzou, Wen-Shyong, Hu, Chin-Hua

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Neuronal intranuclear inclusion disease in one family: clinical diversity and diagnostic challenges von Kang, Eugene Yu-Chuan, Hsiao, Meng-Chang, Chen, Kuang-Hua, Wang, Nan-Kai, Hwang, Yih-Shiou

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45. Examining potential candidate genes within deletions of 3p14.2 to 3p14.1 in two cases of autism and developmental delay von Smith, Rebecca, Yenamandra, Ashwini, Hsiao, Meng-Chang, Guardado, Monica, Saffir, Jeanette, Ward, Scott

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