Murim Choi

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Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Stephan J Sanders, H. Per, R. Bronen, 2010, Nature.

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

I. Tikhonova, Paul Zumbo, Murim Choi, 2009, Proceedings of the National Academy of Sciences.

Genetic studies of body mass index yield new insights for obesity biology

Ross M. Fraser, Janina M. Jeff, Ellen M. Schmidt, 2015, Nature.

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

Murim Choi, R. Lifton, M. Salvadori, 2014, Nature Genetics.

De novo mutations in histone modifying genes in congenital heart disease

Murim Choi, Hongyu Zhao, Alexander E. Lopez, 2013, Nature.

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Michael F. Walker, Stephan J Sanders, K. Roeder, 2012, Nature.

Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities

Jai Radhakrishnan, Murim Choi, Robert Bjornson, 2012, Nature.

Neural-Specific Deletion of Htra2 Causes Cerebellar Neurodegeneration and Defective Processing of Mitochondrial OPA1

Xinran Liu, J. Hoh, C. Kuan, 2014, PloS one.

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

Matthew J. Davis, S. Ariyan, K. Kidd, 2012, Nature Genetics.

New genetic loci link adipose and insulin biology to body fat distribution

Tamara S. Roman, Thomas W. Mühleisen, Ellen M. Schmidt, 2014, Nature.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

R. Pfundt, M. Reijnders, B. D. de Vries, 2017, American journal of human genetics.

Mutations in DSTYK and dominant urinary tract malformations.

R. Ravazzolo, A. Latos-Bieleńska, V. D’Agati, 2013, The New England journal of medicine.

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Kathryn Roeder, Murim Choi, Eric M. Morrow, 2011, Neuron.

Susceptibility loci for intracranial aneurysm in European and Japanese populations

Murim Choi, Mikael von und zu Fraunberg, Ituro Inoue, 2008, Nature Genetics.

Genomic analysis of synchronous intracranial meningiomas with different histological grades

Murim Choi, J. Y. Lee, Chul-Kee Park, 2018, Journal of Neuro-Oncology.

Defining the phenotypic spectrum of SLC6A1 mutations

G. Carvill, H. Mefford, P. Striano, 2018, Epilepsia.

Neurogenetic analysis of childhood disintegrative disorder

Kevin A. Pelphrey, Murim Choi, Gillian Baird, 2017, Molecular Autism.

Genetic associations of in vivo pathology influence Alzheimer’s disease susceptibility

D. Y. Lee, Yu Kyeong Kim, C. Sohn, 2020, Alzheimer's Research & Therapy.

Oncogenic effects of germline mutations in lysosomal storage disease genes

J. Korbel, Murim Choi, Hyung-Lae Kim, 2018 .

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

Murim Choi, R. Lifton, U. Scholl, 2009, Proceedings of the National Academy of Sciences.

The role of de novo variants in complex and rare diseases pathogenesis

Murim Choi, Mahir Rahman, Woohyun Lee, 2015 .

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.

Methylome analysis reveals alterations in DNA methylation in the regulatory regions of left ventricle development genes in human dilated cardiomyopathy.

J. Bae, Murim Choi, Hae-Young Lee, 2016, Genomics.

Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps.

J. Klingensmith, B. Hogan, Murim Choi, 2006, Differentiation; research in biological diversity.

Proteomic Analysis Reveals Distinct Metabolic Differences Between Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) and Macrophage Colony Stimulating Factor (M-CSF) Grown Macrophages Derived from Murine Bone Marrow Cells*

Murim Choi, K. Kim, J. Jung, 2015, Molecular & Cellular Proteomics.

The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms.

J. Klingensmith, Murim Choi, R. Stottmann, 2006, Developmental biology.

BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium

J. Klingensmith, Murim Choi, Y. Mishina, 2004, 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.

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

Annabelle L. Fonseca, S. Mane, S. Libutti, 2013, Nature Genetics.

Exome sequencing identifies recurrent somatic RAC 1 mutations in melanoma

Matthew J. Davis, S. Ariyan, K. Kidd, 2016 .

A logical network-based drug-screening platform for Alzheimer’s disease representing pathological features of human brain organoids

D. Y. Lee, Kwang-Hyun Cho, Murim Choi, 2021, Nature Communications.

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.

Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis

Loreto Gesualdo, Krzysztof Kiryluk, Murim Choi, 2012, PLoS genetics.

Multiple Recurrent De Novo Copy Number Variations , Including Duplications of the 7 q 11 . 23 Williams-Beuren Syndrome Region , Are Associated with Autism

Rebecca, Michael J. DiCola, Stephan J Sanders, 2011 .

A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report

Murim Choi, E. Bae, Min Hyung Woo, 2018, Journal of Genetic Medicine.

A family with NKX 2 . 5 gene mutations presenting as familial atrial septal defect and atrioventricular block : A case report

Murim Choi, E. Bae, Min Hyung Woo, 2018 .

Multi‐Omics‐Based Autophagy‐Related Untypical Subtypes in Patients with Cerebral Amyloid Pathology

D. Y. Lee, D. Hwang, Murim Choi, 2022, Advanced science.

A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations

Murim Choi, Ji Yeon Han, J. Chae, 2019, Journal of clinical neurology.

Interaction effect between NAFLD severity and high carbohydrate diet on gut microbiome alteration and hepatic de novo lipogenesis

Jeong Hwan Park, Murim Choi, M. Chang, 2022, Gut microbes.

CLCN2 Chloride Channel Mutations in Familial Hyperaldosteronism Type II

P. Mertins, Murim Choi, R. Lifton, 2017, Nature Genetics.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Michael F. Wangler, J. Rosenfeld, A. Moser, 2020, Neuron.

Fatal systemic disorder caused by biallelic variants in FARSA

Murim Choi, Hyunook Kang, J. Moon, 2022, Orphanet Journal of Rare Diseases.

JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms

Murim Choi, N. Komatsu, N. Noda, 2015, Haematologica.

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).

Murim Choi, F. Visioli, A. R. Vieira, 2015, Oral surgery, oral medicine, oral pathology and oral radiology.

Murim Choi, K. Kim, Ji Hye Hong, 2015 .

Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

Murim Choi, J. Chae, Ki Joong Kim, 2019, Yonsei medical journal.

The Bone Morphogenetic Protein Antagonist Noggin Regulates Mammalian Cardiac Morphogenesis

J. Klingensmith, Murim Choi, Yu-Ping Yang, 2007, Circulation research.

The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure

Jiyeon Han, Murim Choi, M. Seong, 2022, Orphanet Journal of Rare Diseases.

Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

Murim Choi, J. Ko, G. Nishimura, 2021, Human genome variation.

Comprehensive Re-Sequencing of Adrenal Aldosterone Producing Lesions Reveal Three Somatic Mutations near the KCNJ5 Potassium Channel Selectivity Filter

M. Bäckdahl, Murim Choi, R. Lifton, 2012, PloS one.

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.

Reply to “a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett‐like phenotype”

Murim Choi, Y. Yoo, Jaeso Cho, 2018, Annals of neurology.

The mutation of BCOR is highly recurrent and oncogenic in mature T-cell lymphoma

Murim Choi, Y. Ko, S. Kim, 2021, BMC Cancer.

Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10

Murim Choi, Richard P Lifton, Jing Zhou, 2010, Science.

Extended haplotype association study in Crohn’s disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3

Judy H. Cho, John P. Ferguson, P. Gregersen, 2013, Genes and Immunity.

A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population

Jin Ok Yang, J. Bhak, W. Park, 2022, Experimental & molecular medicine.

Increased Levels of Macrophage Inflammatory Proteins Result in Resistance to R5-Tropic HIV-1 in a Subset of Elite Controllers

Samit R. Joshi, M. Kozal, E. Fikrig, 2015, Journal of Virology.

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases

Jihoon G. Yoon, Jihoon G Yoon, Murim Choi, 2022, Frontiers in Genetics.

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.

Kidney residency of VISTA-positive macrophages accelerates repair from ischemic injury.

Murim Choi, C. Kwak, Y. Kim, 2019, Kidney international.

Fam83h null mice support a neomorphic mechanism for human ADHCAI

Murim Choi, Jung‐Wook Kim, Yuan-Ling Lee, 2015, Molecular genetics & genomic medicine.

A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population

Jin Ok Yang, J. Bhak, Murim Choi, 2022, Experimental & Molecular Medicine.

Distinct prefrontal projections conversely orchestrate social competition and hierarchy

J. Koo, Murim Choi, Byungsoo Kang, 2023, bioRxiv.

Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds

Murim Choi, Yuan-Ling Lee, K. C. Kent Lloyd, 2014, Molecular genetics & genomic medicine.

K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

S. Mane, Murim Choi, R. Lifton, 2011, Science.

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

Murim Choi, Jung‐Wook Kim, J. Simmer, 2014, Human molecular genetics.

Co-occurring genomic alterations define major subsets of KRAS-mutant lung adenocarcinoma with distinct biology, immune profiles, and therapeutic vulnerabilities.

Michael Peyton, Humam Kadara, Murim Choi, 2015, Cancer discovery.

GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy

F. Kronenberg, P. Gregersen, C. Wijmenga, 2021, medRxiv.

Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes

Murim Choi, J. Chae, Ki Joong Kim, 2020, Clinical genetics.

The dentin phosphoprotein repeat region and inherited defects of dentin

K. Kawasaki, Murim Choi, F. Seymen, 2015, Molecular genetics & genomic medicine.

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.

D. Jain, Murim Choi, Shrikant Mane, 2012, Blood.

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.

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

S. Chandra, S. Mane, T. Boggon, 2013, Proceedings of the National Academy of Sciences.

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.

Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition

S. Mane, T. Boggon, Kaya Bilgüvar, 2016, Proceedings of the National Academy of Sciences.

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

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

Rare deleterious mutations of the gene EFR3A in autism spectrum disorders

M. Daly, L. Klei, Hongyu Zhao, 2014, Molecular Autism.

Serial exome analysis of disease progression in premalignant gammopathies

S. Mane, B. Barlogie, M. Dhodapkar, 2014, Leukemia.

Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases

Murim Choi, Gerald Goh, Murim Choi, 2012, Genomics & informatics.

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.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

S. Mane, I. So, Hee-Jung Choi, 2017, Annals of neurology.

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

G. Superti-Furga, C. Rivolta, E. Dikoglu, 2015, Scientific Reports.

Endogenous bone morphogenetic protein antagonists regulate mammalian neural crest generation and survival

Ryan M. Anderson, J. Klingensmith, Murim Choi, 2006, Developmental dynamics : an official publication of the American Association of Anatomists.

LIN28A loss of function is associated with Parkinson's disease pathogenesis

Murim Choi, Jungyun Park, Jungwook Hwang, 2019, The EMBO journal.

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

Murim Choi, V. Shashi, K. Schoch, 2019, Human mutation.

Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.

S. Mane, C. Larsson, D. Rimm, 2015, Human molecular genetics.

Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.

Annabelle L. Fonseca, S. Mane, C. Larsson, 2015, The Journal of clinical endocrinology and metabolism.

Identification of somatic mutations in parathyroid tumors using whole-exome sequencing.

Murim Choi, R. Lifton, C. Nelson-Williams, 2012, The Journal of clinical endocrinology and metabolism.

IL23-Producing Human Lung Cancer Cells Promote Tumor Growth via Conversion of Innate Lymphoid Cell 1 (ILC1) into ILC3

C. Kang, Murim Choi, Ji-Eun Kim, 2019, Clinical Cancer Research.

Findings of a 1303 Korean whole-exome sequencing study

Y. Bang, Murim Choi, S. Kwak, 2017, Experimental &Molecular Medicine.

Genome-wide association study identifies susceptibility loci for IgA nephropathy

Loreto Gesualdo, Krzysztof Kiryluk, Murim Choi, 2011, Nature Genetics.

A form of the metabolic syndrome associated with mutations in DYRK1B.

R. Malekzadeh, K. Kidd, S. Mane, 2014, The New England journal of medicine.

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

O. Mäkitie, Dongsup Kim, G. Stewart, 2019, American journal of human genetics.

University of Birmingham Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

O. Mäkitie, Dongsup Kim, G. Stewart, 2019 .

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

Murim Choi, R. Lifton, U. Scholl, 2015, eLife.

Comprehensive DNA methylation analysis of benign and malignant adrenocortical tumors

Annabelle L. Fonseca, Murim Choi, R. Lifton, 2012, Genes, chromosomes & cancer.

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

E. Meffre, T. Boggon, Murim Choi, 2014, Nature Genetics.

Association between circulating bile acid alterations and nonalcoholic steatohepatitis independent of obesity and diabetes mellitus

Jeong Hwan Park, Murim Choi, S. Kang, 2021, Liver international : official journal of the International Association for the Study of the Liver.

Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO

Murim Choi, John D. Overton, Philip H. Gutin, 2013, Science.

Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma

T. Boggon, Murim Choi, Shrikant Mane, 2013, Proceedings of the National Academy of Sciences.

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations

Murim Choi, T. Cho, Jieun Seo, 2017, Journal of child neurology.

Generation and characterization of a mitotane-resistant adrenocortical cell line

B. Obermayer, D. Beule, Murim Choi, 2020, Endocrine connections.

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

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

Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's Disease: Methodology and Baseline Sample Characteristics

D. Y. Lee, S. Ryu, Yu Kyeong Kim, 2017, Psychiatry investigation.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

A. Paterson, H. Prokisch, S. Levy, 2013, The Journal of clinical investigation.

Isolated polycystic liver disease genes define effectors of polycystin-1 function.

S. Mane, Murim Choi, R. Lifton, 2017, The Journal of clinical investigation.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Recessive LAMC3 mutations cause malformations of occipital cortical development

Murim Choi, Katja Doerschner, Ergin Atalar, 2011, Nature Genetics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

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

The Korean undiagnosed diseases program: lessons from a one-year pilot project

Murim Choi, M. Seong, S. Park, 2019, Orphanet Journal of Rare Diseases.

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

D. Jain, Murim Choi, Shrikant Mane, 2014, Journal of hepatology.

Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases

Jinkuk Kim, Murim Choi, J. Chae, 2022, Journal of Medical Genetics.

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

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

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

J. Belmont, J. Towbin, Murim Choi, 2011, Proceedings of the National Academy of Sciences.

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors

D. Dietrich, Murim Choi, R. Lifton, 2014, Nature Genetics.

Isolated polycystic liver disease genes define effectors of polycystin-1 function

S. Mane, Murim Choi, R. Lifton, 2017, The Journal of clinical investigation.

A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.

Manal M. Hassan, R. Sackler, J. Hoh, 2011, Endocrine-related cancer.

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

Hongyu Zhao, S. Mane, Murim Choi, 2016, American journal of human genetics.

Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas

Annabelle L. Fonseca, S. Mane, Murim Choi, 2015, Proceedings of the National Academy of Sciences.

Deciphering the genetic links between NAFLD and co-occurring conditions using a liver gene regulatory network

W. Schierding, Murim Choi, J. O'Sullivan, 2021, bioRxiv.

Frequency data on four tetrameric STR loci D18S1270, D14S608, D16S3253 and D21S1437 in a Korean population

Murim Choi, H. Rho, Seung Hwan Lee, 2000, International Journal of Legal Medicine.

E2F1 Activates the Human p53 Promoter and Overcomes the Repressive Effect of Hepatitis B Viral X Protein (HBx) on the p53 Promoter

Murim Choi, Murim Choi, H. Rho, 2002, IUBMB life.

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

John Hwa, Véronique Baudouin, Murim Choi, 2013, Nature Genetics.

Data of methylome and transcriptome derived from human dilated cardiomyopathy

J. Bae, Murim Choi, Hae-Young Lee, 2016, Data in brief.

SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation

Murim Choi, J. Ko, T. Cho, 2016, Journal of Human Genetics.

Chordin Is a Modifier of Tbx1 for the Craniofacial Malformations of 22q11 Deletion Syndrome Phenotypes in Mouse

J. Klingensmith, Murim Choi, 2009, PLoS genetics.

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome‐like phenotype

Murim Choi, J. Chae, Junghan Song, 2016, American journal of medical genetics. Part A.

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.

Familial cortical myoclonus with a mutation in NOL3

D. Geschwind, B. Merriman, G. Coppola, 2012, Annals of neurology.

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

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.

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.

A Genome‐Wide Association Study to Identify Single‐Nucleotide Polymorphisms for Acute Kidney Injury

Hongyu Zhao, A. Garg, D. Leaf, 2017, American journal of respiratory and critical care medicine.

Wiedemann-Steiner Syndrome With 2 Novel KMT 2 A Mutations : Variable Severity in Psychomotor Development and Musculoskeletal Manifestation

Murim Choi, J. Ko, T. Cho, 2016 .

Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173.

Dong Hun Lee, Murim Choi, June-Dong Park, 2017, The Journal of allergy and clinical immunology.

Clinical and genetic characteristics of Korean patients with IARS2-related disorders

Murim Choi, M. Seong, J. Chae, 2019 .

Biallelic mutations in ABCB1 display recurrent reversible encephalopathy

Murim Choi, J. Ku, J. Paeng, 2020, Annals of clinical and translational neurology.

Expression patterns of astrocyte elevated gene-1 (AEG-1) during development of the mouse embryo.

P. Fisher, Murim Choi, Seok-Geun Lee, 2010, Gene expression patterns : GEP.

CLCN2 Chloride Channel Mutations in Familial Hyperaldosteronism Type II

Murim Choi, R. Lifton, U. Scholl, 2017, Nature Genetics.

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.

Identifying germline APOBEC3B deletion and immune phenotype in Korean patients with operable breast cancer

Murim Choi, S. Y. Park, E. Kang, 2020, Breast Cancer Research and Treatment.

Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in nonalcoholic fatty liver disease

K. Kang, Murim Choi, W. Jeong, 2021, bioRxiv.

Ultra-rare Disease and Genomics-Driven Precision Medicine

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

Genetic associations of in vivo pathology influence Alzheimer’s disease susceptibility

D. Y. Lee, Yu Kyeong Kim, C. Sohn, 2020, Alzheimer's research & therapy.

Oncogenic effects of germline variants in lysosomal storage disease genes

Murim Choi, Hyung-Lae Kim, Sung-Soo Yoon, 2019, Genetics in Medicine.

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

F. Kronenberg, P. Gregersen, C. Wijmenga, 2023, Nature Genetics.

Erratum: Isolated polycystic liver disease genes define effectors of polycystin-1 function (The Journal of clinical investigation (2017) 127 5 (1772-1785) PII: 96729)

S. Mane, Murim Choi, R. Lifton, 2017 .

ADCK 4 mutations promote steroid-resistant nephrotic syndrome through CoQ 10 biosynthesis disruption

A. Paterson, H. Prokisch, S. Levy, 2018 .

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.

The clonal origins of leukemic progression of myelodysplasia

S. Y. Kim, Marc S. Tyndel, Zhaolei Zhang, 2016, Leukemia.

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations

Murim Choi, J. Ko, Y. Shin, 2015, Journal of Human Genetics.

Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function

J. Fujimoto, I. Wistuba, S. Swisher, 2016, Annals of oncology : official journal of the European Society for Medical Oncology.

Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates

Soo Hyun Kwon, L. Ment, Heping Zhang, 2013, Pediatric Research.

Single Amino Acid Deletion in MYH11 Segregating in a Family with TAAD

Jingshi Wu, J. Elefteriades, Murim Choi, 2016 .

New genetic loci link adipose and insulin biology to body fat distribution

Thomas W. Mühleisen, Cameron D. Palmer, M. Jarvelin, 2014, Nature.

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

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

Identification of somatic mutations in parathyroid tumors using whole-exome sequencing.

Murim Choi, R. Lifton, C. Nelson-Williams, 2012, The Journal of clinical endocrinology and metabolism.

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.

Overlooked KCNQ4 variants augment the risk of hearing loss

Murim Choi, H. Gee, W. Namkung, 2023, Experimental & molecular medicine.