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Hyunwoo Bae

Explore the profile of Hyunwoo Bae including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 9
Followers 0
Related Specialties
Genetics
Neurology
Oncology
Top 10 Co-Authors
Beom Hee Lee
Soojin Hwang
Go Hun Seo
Hyo-Sang Do
Dohyung Kim
Soyoung Kim
Ji-Hee Yoon
Gu-Hwan Kim
Young Seok Ju
June-Young Koh
Published In
J Hum Genet
Am J Hum Genet
Am J Hematol
Neuro Oncol
J Clin Neurol
Affiliations
Soon will be listed here.
Recent Articles
1.
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome
Kim D, Yoon J, Bae H, Hwang S, Seo G, Koh J, et al.
J Hum Genet . 2025 Feb; PMID: 40000719
The Verloes or Hale diagnostic criteria have been applied for diagnosing CHARGE syndrome in suspected patients. This study was conducted to evaluate the diagnostic rate of CHD7 according to these...
2.
Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibroma
Kim H, Yoon H, Kim E, Ra Y, Kim H, Yum M, et al.
Neuro Oncol . 2024 Jul; 26(12):2352-2363. PMID: 38975694
Background: The MEK inhibitor, selumetinib, reduces plexiform neurofibroma (PN) in pediatric patients with neurofibromatosis type 1 (NF1). Its safety and efficacy in adults with PN and effectiveness in other NF1...
3.
Clinical and molecular characteristics of Korean patients with Kabuki syndrome
Yoon J, Hwang S, Bae H, Kim D, Seo G, Koh J, et al.
J Hum Genet . 2024 Jun; 69(9):417-423. PMID: 38824232
Introduction: Kabuki syndrome (KS) is a rare disorder characterized by typical facial features, skeletal anomalies, fetal fingertip pad persistence, postnatal growth retardation, and intellectual disabilities. Heterozygous variants of the KMT2D...
4.
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature
Cho J, Hwang S, Kwak Y, Yum M, Seo G, Koh J, et al.
Mol Genet Genomic Med . 2024 Apr; 12(4):e2430. PMID: 38581121
Background: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder caused by loss-of-function mutations of the NTRK1 gene, affecting the autonomic and sensory nervous system....
5.
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease
Hwang S, Bae H, Yoon J, Kim D, Do H, Heo S, et al.
Am J Hematol . 2024 Apr; 99(7):1396-1399. PMID: 38562044
High-dose ambroxol therapy combined with ERT in patients with neuropathic Gaucher disease.
6.
Dope it with germanium: selective access to functionalized SiGe heterocycles
Kostler B, Bae H, Gilmer J, Virovets A, Lerner H, Albert P, et al.
Chem Commun (Camb) . 2022 Dec; 59(6):716-719. PMID: 36541103
The Cl diadduct [BuN][A·2Cl] of the mixed cyclohexatetrelane (SiCl)(GeMe), A, is accessible from MeGeCl, 6 eq. SiCl, and 2 eq. [BuN]Cl in one step (96%). Free, tenfold functionalized A can...
7.
Clinical Usefulness of Simultaneous Electroencephalography and Functional Magnetic Resonance Imaging in Children With Focal Epilepsy
Lee Y, Bae H, Byun J, Kwon S, Oh S, Kim S
J Clin Neurol . 2022 Sep; 18(5):535-546. PMID: 36062771
Background And Purpose: The current study analyzed the interictal epileptiform discharge (IED)-related hemodynamic response and aimed to determine the clinical usefulness of simultaneous electroencephalography and functional magnetic resonance imaging (EEG-fMRI)...
8.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Thomas Q, Motta M, Gautier T, Zaki M, Ciolfi A, Paccaud J, et al.
Am J Hum Genet . 2022 Aug; 109(10):1909-1922. PMID: 36044892
The transmembrane protein TMEM147 has a dual function: first at the nuclear envelope, where it anchors lamin B receptor (LBR) to the inner membrane, and second at the endoplasmic reticulum...