Hong Li
- Department of Human Genetics
Associate Professor
-
1365 Clifton Road NE
Suite 2200
Atlanta, GA 30322
Overview
I am a clinical and biochemical geneticist in the Division of Medical Genetics. I specialize in the diagnosis and treatment of inherited metabolic disorders, lysosomal storage diseases, genetic disorders with dysmorphic features and intellectual disability.
Areas of Specialization
-Clinical Genetics
-Biochemical Genetics
-Newborn Screening
Academic Appointment
- Associate Professor, Pediatrics, Emory University
Education
Degrees
- MD from Hebei Medical University
- PhD from Jichi Medical University Hospital
Research
Publications
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Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome.
J Clin Sleep Med
03/21/2025 Authors: Yoo M; Shah A; Shahrour H; Li H; Kasi AS -
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Genes (Basel) Volume: 15
08/06/2024 Authors: Borroto MC; Michaud C; Hudon C; Agrawal PB; Agre K; Applegate CD; Beggs AH; Bjornsson HT; Callewaert B; Chen M-J -
Inborn errors of metabolism and pregnancy.
Am J Obstet Gynecol MFM Volume: 6 Page(s): 101399
08/01/2024 Authors: Murphey K; Krishna I; Li H -
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.
Front Mol Neurosci Volume: 17 Page(s): 1222935
01/01/2024 Authors: Efthymiou S; Han W; Ilyas M; Li J; Yu Y; Scala M; Malintan NT; Ilyas M; Vavouraki N; Mankad K -
Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.
Am J Med Genet A Volume: 191 Page(s): 718 - 729
03/01/2023 Authors: Valverde de Morales HG; Wang H-LV; Garber K; Cheng X; Corces VG; Li H -
Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
Am J Med Genet A Volume: 191 Page(s): 130 - 134
01/01/2023 Authors: Gonzalez A; Smith GH; Gambello MJ; Sokolov J; Koich V; Li H -
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C>T) variant of GALT.
J Inherit Metab Dis Volume: 45 Page(s): 1106 - 1117
11/01/2022 Authors: Katler QS; Stepien KM; Paull N; Patel S; Adams M; Balci MC; Berry GT; Bosch AM; DeLaO A; Demirbas D -
Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I.
Am J Med Genet A Volume: 188 Page(s): 2707 - 2711
09/01/2022 Authors: Murphey K; George PE; Pencheva B; Porter CC; Wechsler SB; Gambello MJ; Li H -
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med Volume: 24 Page(s): 1941 - 1951
09/01/2022 Authors: Kry S; Zhang J; Besnard T; Caro-Llopis A; Zeng X; Robert SM; Josiah SS; Kiziltug E; Denomm-Pichon A-S; Cogn B -
A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism.
Am J Med Genet A Volume: 188 Page(s): 2429 - 2433
08/01/2022 Authors: Reyes Diaz JV; Jin Y; Garber K; Cossen KM; Li Y; Jin P; Li H; Ham J-YN