Beom-Hee Lee (Beom Hee Lee, Han-Wook Yoo)

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 32

Top Topics

Hypertrophic Cardiomyopathy

Replacement Therapy

Intellectual Disability

Top Venues

Journal of medical genetics

Journal of Korean medical science

Molecular genetics & genomic medicine

American journal of hematology

This page only lists publications with an associated author ORCID identifier.

Publications

Soojin Hwang, Hyunwoo Bae, Ji-Hee Yoon, Dohyung Kim, Hyo-Sang Do, Sun Hee Heo, Soyoung Kim, Han Wook Yoo, Majdolen Istaiti, Ari Zimran, Beom-Hee Lee
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease. American journal of hematology 99 (7) (2024)
Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi-Sun Yum, Go Hun Seo, June-Young Koh, Young Seok Ju, Ji-Hee Yoon, Minji Kang, Hyo-Sang Do, Soyoung Kim, Gu-Hwan Kim, Hyunwoo Bae, Beom-Hee Lee
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature. Molecular genetics & genomic medicine 12 (4) (2024)
Ji-Hee Yoon, Soojin Hwang, Hyunwoo Bae, Dohyung Kim, Go Hun Seo, June-Young Koh, Young Seok Ju, Hyo-Sang Do, Soyoung Kim, Gu-Hwan Kim, Ja Hye Kim, Jin Ho Choi, Beom-Hee Lee
Clinical and molecular characteristics of Korean patients with Kabuki syndrome. Journal of human genetics (2024)
Soojin Hwang, Hyunwoo Bae, Ji-Hee Yoon, Dohyung Kim, Hyo-Sang Do, Sun Hee Heo, Soyoung Kim, Han Wook Yoo, Majdolen Istaiti, Ari Zimran, Beom-Hee Lee
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease. American journal of hematology 99 (7) (2024)
Soojin Hwang, Hyunwoo Bae, Ji-Hee Yoon, Dohyung Kim, Hyo-Sang Do, Sun Hee Heo, Soyoung Kim, Han Wook Yoo, Majdolen Istaiti, Ari Zimran, Beom-Hee Lee
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease. American journal of hematology (2024)
Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi-Sun Yum, Go Hun Seo, June-Young Koh, Young Seok Ju, Ji-Hee Yoon, Minji Kang, Hyo-Sang Do, Soyoung Kim, Gu-Hwan Kim, Hyunwoo Bae, Beom-Hee Lee
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature. Molecular genetics & genomic medicine 12 (4) (2024)
Hyery Kim, Hee Mang Yoon, Eun Key Kim, Young Shin Ra, Hyo-Won Kim, Mi-Sun Yum, Min-Jee Kim, Jae Suk Baek, Yu Sub Sung, Sang Min Lee, Hyeong-Seok Lim, Byung Joo Lee, Hyun Taek Lim, Dohyung Kim, Jihee Yoon, Hyunwoo Bae, Soojin Hwang, Yun-Ha Choi, Kyung Ah Kim, In Hee Choi, Seung Won Lee, Su-Jung Park, Beom-Hee Lee
Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibroma. Neuro-oncology (2024)
Ji-Hee Yoon, Soojin Hwang, Hyunwoo Bae, Dohyung Kim, Go Hun Seo, June-Young Koh, Young Seok Ju, Hyo-Sang Do, Soyoung Kim, Gu-Hwan Kim, Ja Hye Kim, Jin Ho Choi, Beom-Hee Lee
Clinical and molecular characteristics of Korean patients with Kabuki syndrome. Journal of human genetics 69 (9) (2024)
Ji-Hee Yoon, Soojin Hwang, Hyunwoo Bae, Dohyung Kim, Go Hun Seo, June-Young Koh, Young Seok Ju, Hyo-Sang Do, Soyoung Kim, Gu-Hwan Kim, Ja Hye Kim, Jin Ho Choi, Beom-Hee Lee
Clinical and molecular characteristics of Korean patients with Kabuki syndrome. Journal of human genetics 69 (9) (2024)
Jiwon Jung, Joo Hoon Lee, Go Hun Seo, Changwon Keum, Hee Gyung Kang, Heeyeon Cho, Hajeong Lee, Su-Kil Park, Chung Hee Baek, Ro Han, Sang Taek Lee, Min Hyun Cho, Hyung Eun Yim, Ja Wook Koo, Beom-Hee Lee
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application. Clinical genetics (2023)
Jisun Hwang, Hee Mang Yoon, Beom-Hee Lee, Pyeong Hwa Kim, Kyung Won Kim
Efficacy and Safety of Selumetinib in Pediatric Patients With Neurofibromatosis Type 1: A Systematic Review and Meta-analysis. Neurology 98 (9) (2022)
Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin-Ho Choi, Minji Kang, Gu-Hwan Kim, Han-Wook Yoo, Beom-Hee Lee
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature. Molecular genetics & genomic medicine (2022)
Eungu Kang, Yoon-Myung Kim, Yunha Choi, Yena Lee, JunYoung Kim, In Hee Choi, Han-Wook Yoo, Hee Mang Yoon, Beom-Hee Lee
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression. Orphanet journal of rare diseases 17 (1) (2022)
Bumsoo Kim, Yongjun Koh, Hyunsu Do, Younghee Ju, Jong Bin Choi, Gahyang Cho, Han-Wook Yoo, Beom-Hee Lee, Jinju Han, Jong-Eun Park, Yong-Mahn Han
Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs. International journal of molecular sciences 23 (22) (2022)
Go Hun Seo, Hane Lee, Jungsul Lee, Heonjong Han, You Kyung Cho, Minji Kim, Yunha Choi, Jeongmin Choi, In Hee Choi, Seonkyeong Rhie, Kyu Young Chae, Yoo-Mi Kim, Chong Kun Cheon, Su Jin Kim, Jieun Lee, Eungu Kang, Jung Hye Byeon, Hee Joon Yu, Young-Lim Shin, Arum Oh, Woo Jin Kim, Mi-Sun Yum, Beom-Hee Lee, Baik-Lin Eun
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay. Molecular medicine (Cambridge, Mass.) 28 (1) (2022)
Jiwon Jung, Joo Hoon Lee, Young Seo Park, Go Hun Seo, Changwon Keum, Hee Gyung Kang, Hajeong Lee, Sang Koo Lee, Sang Taek Lee, Heeyeon Cho, Beom-Hee Lee
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management. BMC medical genomics 14 (1) (2021)
Jae Guk Jang, Seak Hee Oh, Yu Bin Kim, Seo Hee Kim, Han Wook Yoo, Beom-Hee Lee, Jung-Man Namgoong, Dae-Yeon Kim, Ki Hun Kim, Gi-Won Song, Deok Bog Moon, Shin Hwang, Sung Gyu Lee, Kyung Mo Kim
Efficacy of Living Donor Liver Transplantation in Patients with Methylmalonic Acidemia. Pediatric gastroenterology, hepatology & nutrition 24 (3) (2021)
Yoon-Jeon Kim, You-Na Kim, Young-Hee Yoon, Eul-Ju Seo, Go-Hun Seo, Changwon Keum, Beom-Hee Lee, Joo-Yong Lee
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort. Genes 12 (5) (2021)
Yeonmi Lee, Taeho Kim, Miju Lee, Seongjun So, Mustafa Zafer Karagozlu, Go Hun Seo, In Hee Choi, Peter Chang-Whan Lee, Chong-Jai Kim, Eunju Kang, Beom-Hee Lee
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans. Genes 12 (2) (2021)
Go Hun Seo, Taeho Kim, In Hee Choi, Jung-Young Park, Jungsul Lee, Sehwan Kim, Dhong-Gun Won, Arum Oh, Yena Lee, Jeongmin Choi, Hajeong Lee, Hee Gyung Kang, Hee Yeon Cho, Min Hyun Cho, Yoon Jeon Kim, Young Hee Yoon, Baik-Lin Eun, Robert J Desnick, Changwon Keum, Beom-Hee Lee
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE. Clinical genetics 98 (6) (2020)
Harin Kim, Kee Jeong Park, Yong Wook Shin, Jung Sun Lee, Seockhoon Chung, Taeyeop Lee, Min Jae Kim, Sung-Han Kim, Jina Lee, Mi Sun Yum, Beom-Hee Lee, Kyung-Nam Koh, Tae Sung Ko, Eunyoung Lim, Jung Soo Lee, Jee Yeon Lee, Ji Yeon Choi, Hyo Myung Han, Woo Ah Shin, Nam Ju Lee, Sung Han Kim, Hyo-Won Kim
Psychological Impact of Quarantine on Caregivers at a Children's Hospital for Contact with Case of COVID-19. Journal of Korean medical science 35 (28) (2020)
Eungu Kang, Minji Kang, Younghee Ju, Sang-Joon Lee, Yong-Seok Lee, Dong-Cheol Woo, Young Hoon Sung, In-Jeoung Baek, Woo Hyun Shim, Woo-Chan Son, In Hee Choi, Eul-Ju Seo, Han-Wook Yoo, Yong-Mahn Han, Beom-Hee Lee
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature. Journal of medical genetics 58 (11) (2020)
Min-Jee Kim, Mi-Sun Yum, Go Hun Seo, Yena Lee, Han Na Jang, Tae-Sung Ko, Beom-Hee Lee
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders. Journal of clinical medicine 9 (11) (2020)
Yoon-Myung Kim, Mi-Sun Yum, Sun Hee Heo, Taeho Kim, Hee Kyung Jin, Jae-Sung Bae, Go Hun Seo, Arum Oh, Hee Mang Yoon, Hyun Taek Lim, Hyo-Won Kim, Tae-Sung Ko, Hyeong-Seok Lim, Mark J Osborn, Jakub Tolar, Claudia Cozma, Arndt Rolfs, Ari Zimran, Beom Hee Lee, Beom-Hee Lee
Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy. Journal of medical genetics 57 (2) (2019)
Eun Sang Rhee, Yu Bin Kim, Sung Hee Lee, Seak Hee Oh, Beom-Hee Lee, Kyung Mo Kim, Han Wook Yoo
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1. Pediatric gastroenterology, hepatology & nutrition 22 (5) (2019)
Sungbin Cho, Seung Ri Kang, Beom-Hee Lee, Se Hoon Choi
Chylous Manifestations and Management of Gorham-Stout Syndrome. The Korean journal of thoracic and cardiovascular surgery 52 (1) (2019)
Yoon Sunwoo, Yoon-Myung Kim, Eun Na Kim, Seak-Hee Oh, Beom-Hee Lee
Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure. Pediatrics international : official journal of the Japan Pediatric Society 60 (3) (2018)
Go Hun Seo, Yoon-Myung Kim, Seak Hee Oh, Sun Ju Chung, In Hee Choi, Gu-Hwan Kim, Mi-Sun Yum, Jin-Ho Choi, Kyung Mo Kim, Tae-Sung Ko, Beom-Hee Lee, Han-Wook Yoo
Biochemical and molecular characterisation of neurological Wilson disease. Journal of medical genetics 55 (9) (2018)
Ja Hyang Cho, Eungu Kang, Beom-Hee Lee, Gu Hwan Kim, Jin Ho Choi, Han Wook Yoo
DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea. Journal of Korean medical science 32 (6) (2018)
Ji Hyun Kim, Eujin Park, Hye Sun Hyun, Beom-Hee Lee, Gu Hwan Kim, Joo Hoon Lee, Young Seo Park, Hee Gyung Kang, Il-Soo Ha, Hae Il Cheong
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria. Journal of Korean medical science 32 (2) (2017)
Sun Hee Heo, Eungu Kang, Yoon-Myung Kim, Heounjeong Go, Kyung Yong Kim, Jae Yong Jung, Minji Kang, Gu-Hwan Kim, Jae-Min Kim, In-Hee Choi, Jin-Ho Choi, Sung-Chul Jung, Robert J Desnick, Han-Wook Yoo, Beom-Hee Lee
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy. Journal of medical genetics 54 (11) (2017)
Beom-Hee Lee, Aneel Aggarwal, Anne Slavotinek, Lisa Edelmann, Brenden Chen, Robert J Desnick
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. Journal of medical genetics 54 (9) (2017)
Jin Ho Choi, Beom-Hee Lee, Jung Min Ko, Young Bae Sohn, Jin Sung Lee, Gu Hwan Kim, Sun Hee Heo, June-Young Park, Yoo-Mi Kim, Ja-Hye Kim, Han Wook Yoo
A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease. Journal of Korean medical science 30 (4) (2015)