Sangmoon Lee

发表

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Colin A. Johnson, Martin W. Breuss, P. Gaffney, 2020, Neuron.

Comprehensive genetic analysis by whole exome sequencing in 352 Korean pediatric patients with unknown neurodevelopmental disorders

Murim Choi, J. Ko, Jieun Seo, 2018, bioRxiv.

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis

Murim Choi, M. Seong, J. Chae, 2018, Brain and Development.

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

Murim Choi, J. Ko, Jieun Seo, 2020, Scientific Reports.

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

Y. H. Lee, Murim Choi, J. Ko, 2019, Scientific Reports.

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

E. Zackai, H. Hakonarson, Y. Barash, 2019, American journal of human genetics.

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

J. Gleeson, Jennifer McEvoy-Venneri, T. Ben-Omran, 2020, Journal of Medical Genetics.

Leber's Hereditary Optic Neuropathy in a Patient Diagnosed With Normal Tension Glaucoma: A Case Report

Seong-Joon Kim, J. Jang, Sangmoon Lee, 2011 .

Atypical presentation of infantile‐onset farber disease with novel ASAH1 mutations

Murim Choi, Sung-Hye Park, J. Chae, 2016, American journal of medical genetics. Part A.

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Murim Choi, J. Chae, Ki Joong Kim, 2015, Gene.

RNA‐seq profiling of tubulointerstitial tissue reveals a potential therapeutic role of dual anti‐phosphatase 1 in glomerulonephritis

Murim Choi, Y. Kim, D. Kim, 2022, Journal of cellular and molecular medicine.

Closing in on Mechanisms of Open Neural Tube Defects

J. Gleeson, Sangmoon Lee, 2020, Trends in Neurosciences.

Cosmetic regional conjunctivectomy with postoperative mitomycin C application with or without bevacizumab injection.

R. D. Stulting, S. Jang, K. Y. Seo, 2013, American journal of ophthalmology.

Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4.

Sung Gyoo Park, Murim Choi, G. Kang, 2016, The Journal of allergy and clinical immunology.

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.

Murim Choi, J. Seong, J. Ko, 2021, Blood.

Somatic uniparental disomy with a rare EFL1 variant causes Shwachman-Diamond syndrome through dysregulating ribosomal protein synthesis

Chang Hoon Shin, Murim Choi, J. Ko, 2018, bioRxiv.

Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness

Murim Choi, J. Um, Yoon-La Choi, 2021, Cancers.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population

R. Bjornson, W. Park, Murim Choi, 2017, Scientific Reports.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Eric N. Anderson, T. Strom, J. Landers, 2021, Nature Communications.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Kiely N. James, Dillon Y. Chen, G. Mancini, 2019, American journal of human genetics.

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome

Murim Choi, J. Ko, H. Cheong, 2017, Experimental & Molecular Medicine.

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Mohit M. Jain, R. Maroofian, J. Gleeson, 2020, Genetics in Medicine.

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

J. Gécz, J. Gleeson, M. Corbett, 2022, NPJ genomic medicine.

A human three-dimensional neural-perivascular ‘assembloid’ promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology

S. Palecek, J. Gleeson, A. Carlin, 2021, Nature Medicine.

Congenital lacrimal fistula associated with Down syndrome

H. Choung, Namju Kim, Min Joung Lee, 2012, Graefe's Archive for Clinical and Experimental Ophthalmology.

The Role of TNF Superfamily Member 13 in the Progression of IgA Nephropathy.

Murim Choi, K. Moon, Y. Kim, 2016, Journal of the American Society of Nephrology : JASN.

eIF2B-related multisystem disorder in two sisters with atypical presentations.

Murim Choi, J. Chae, J. Cheon, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Prognostic factors for visual recovery after transsphenoidal pituitary adenectomy

S. Paek, Seong-Joon Kim, Y. Yu, 2013, British journal of neurosurgery.

Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation

Murim Choi, J. Chae, H. Hwang, 2018, Brain and Development.

Current Smoking Is Associated with a Poor Visual Acuity Improvement after Intravitreal Ranibizumab Therapy in Patients with Exudative Age-Related Macular Degeneration

S. Song, H. Yu, Sangmoon Lee, 2013, Journal of Korean medical science.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Clinical characteristics and treatment outcomes of patients with congenital membranous punctal obstruction.

H. Choung, Namju Kim, Min Joung Lee, 2014, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant.

Murim Choi, Han-Joon Kim, Dallah Yoo, 2018, Parkinsonism & related disorders.

Ultra-rare Disease and Genomics-Driven Precision Medicine

Sangmoon Lee, Murim Choi, Murim Choi, 2016, Genomics & informatics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

J. Gleeson, M. McDonald, M. Zaki, 2023, American journal of medical genetics. Part A.

TMEM161B modulates radial glial scaffolding in neocortical development

O. Andreassen, S. Murray, W. Dobyns, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.

Murim Choi, J. Seong, J. Ko, 2021, Blood.

Successful haploidentical transplantation with post-transplant cyclophosphamide for activated phosphoinositide 3-kinase δ syndrome.

Murim Choi, H. Shin, J. Choi, 2019, The journal of allergy and clinical immunology. In practice.