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

Jin Sook Lee, Taekyeong Yoo, Moses Lee, +7

Clinical Genetics

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsNuclear Dna Mutations +16

<i>GABBR2</i> mutations determine phenotype in rett syndrome and epileptic encephalopathy

Yongjin Yoo, Jane Jung, Yoo‐Na Lee, +32

Annals of Neurology

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

Jaemoon Koh, Hye Young Kim, Youngha Lee, +8

Clinical Cancer Research

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

Taekyeong Yoo, Sae Kyung Joo, Hyo Jung Kim, +13

Journal of Hepatology

WIP1, a Homeostatic Regulator of the DNA Damage Response, Is Targeted by HIPK2 for Phosphorylation and Degradation

Dong Wook Choi, Wooju Na, Mohammad Humayun Kabir, +16

Molecular Cell

Genome InstabilitySignal TransductionSignaling PathwayCell RegulationNatural Sciences +11

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

Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin, +79

Brain

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, +67

Nature Communications

Heterozygous variants in <i>MYBPC1</i> are associated with an expanded neuromuscular phenotype beyond arthrogryposis

Vandana Shashi, Janelle Geist, Youngha Lee, +9

Human Mutation

Muscle FunctionEngineeringGeneticsMolecular GeneticsCytoskeleton +19

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

Hyuna Kim, Jin Sook Lee, Youngha Lee, +5

Yonsei Medical Journal

De novo variants in <i>SIAH1,</i> encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

Julien Buratti, Lei Ji, Boris Keren, +12

Journal of Medical Genetics