Clinical and molecular spectra of BRAF-associated RASopathy von Lee, Yena, Choi, Yunha, Seo, Go Hun, Kim, Gu-Hwan, Choi, In Hee, Keum, Changwon, Ko, Jung Min, Cheon, Chong Kun, Jeon, Jihyun, Choi, Jin-Ho, Yoo, Han-Wook, Lee, Beom Hee

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Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity von Kim, So Young, Lee, Seungmin, Seo, Go Hun, Kim, Bong Jik, Oh, Doo Yi, Han, Jin Hee, Park, Moo Kyun, Lee, So min, Kim, Bonggi, Yi, Nayoung, Kim, Namju Justin, Koh, Doo Hyun, Hwang, Sohyun, Keum, Changwon, Choi, Byung Yoon

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Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss von Kim, So Young, Kim, Bong Jik, Oh, Doo Yi, Han, Jin Hee, Yi, Nayoung, Kim, Namju Justin, Park, Moo Kyun, Keum, Changwon, Seo, Go Hun, Choi, Byung Yoon

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The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation von Yoo, Sukdong, Kim, Young A., Yoon, Ju Young, Seo, Go Hun, Keum, Changwon, Cheon, Chong Kun

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Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients von Kim, You Na, Song, Joon Seon, Oh, Seak Hee, Kim, Yoon Jeon, Yoon, Young Hee, Seo, Eul-Ju, Seol, Chang Ahn, Lee, Sae-Mi, Choi, Jong-Moon, Seo, Go Hun, Keum, Changwon, Lee, Beom Hee, Lee, Joo Yong

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Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome von Son, Hyun Woo, Lee, Jeong Eun, Oh, Seung Hwan, Keum, Changwon, Chung, Woo Yeong

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Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome von Ahn, Hyunji, Seo, Go Hun, Keum, Changwon, Heo, Sun Hee, Kim, Taeho, Choi, Jeongmin, Yum, Mi-Sun, Lee, Beom Hee

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Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management von Jung, Jiwon, Lee, Joo Hoon, Park, Young Seo, Seo, Go Hun, Keum, Changwon, Kang, Hee Gyung, Lee, Hajeong, Lee, Sang Koo, Lee, Sang Taek, Cho, Heeyeon, Lee, Beom Hee

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Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14 von Kang, Eungu, Kim, Taeho, Oh, Arum, Yum, Mi-Sun, Keum, Changwon, Yoo, Han-Wook, Lee, Beom Hee

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Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea von Lee, Yena, Choi, Yunha, Seo, Go Hun, Kim, Gu-Hwan, Keum, Changwon, Kim, Yoo-Mi, Do, Hyo-Sang, Choi, Jeongmin, Choi, In Hee, Yoo, Han-Wook, Lee, Beom Hee

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Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort von Kim, Yoon-Jeon, Kim, You-Na, Yoon, Young-Hee, Seo, Eul-Ju, Seo, Go-Hun, Keum, Changwon, Lee, Beom-Hee, Lee, Joo-Yong

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KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature von Choi, Yunha, Choi, Jungmin, Do, Hyosang, Hwang, Soojin, Seo, Go Hun, Choi, In Hee, Keum, Changwon, Choi, Jin‐Ho, Kang, Minji, Kim, Gu‐Hwan, Yoo, Han‐Wook, Lee, Beom Hee

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Successful weight reduction and maintenance by using a smartphone application in those with overweight and obesity von Chin, Sang Ouk, Keum, Changwon, Woo, Junghoon, Park, Jehwan, Choi, Hyung Jin, Woo, Jeong-taek, Rhee, Sang Youl

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Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE von Seo, Go Hun, Kim, Taeho, Choi, In Hee, Park, Jung‐young, Lee, Jungsul, Kim, Sehwan, Won, Dhong‐gun, Oh, Arum, Lee, Yena, Choi, Jeongmin, Lee, Hajeong, Kang, Hee Gyung, Cho, Hee Yeon, Cho, Min Hyun, Kim, Yoon Jeon, Yoon, Young Hee, Eun, Baik‐Lin, Desnick, Robert J., Keum, Changwon, Lee, Beom Hee

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The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea von Yoo, Sukdong, Yoon, Ju Young, Keum, Changwon, Cheon, Chong Kun

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Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea von Lee, Ja Young, Oh, Seung-Hwan, Keum, Changwon, Lee, Bo Lyun, Chung, Woo Yeong

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The first case of novel variants of the mutation causing primary amenorrhea in 2 siblings in Korea von Sukdong Yoo, Ju Young Yoon, Changwon Keum, Chong Kun Cheon

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A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features von Oh, Seung Hwan, Keum, Changwon, Her, Minyoung, Chung, Woo Yeong, Kim, Yeong Hoon, Kim, Taehee

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Effects of climatic variables on weight loss: a global analysis von Ustulin, Morena, Keum, Changwon, Woo, Junghoon, Woo, Jeong-taek, Rhee, Sang Youl

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Clinical utility and improved speed of analysis by automated variant prioritization system in genetic hearing loss von Seo, Go Hun, Kim, So Young, Kim, Bong Jik, Oh, Doo Yi, Han, Jin Hee, Park, Moo Kyun, Keum, Changwon, Choi, Byung Yoon

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