Abigail T. Loh
Singapore, Singapore
Last Updated: 09/26/2026
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Found 13 publications
Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism.
Journal: Development (Cambridge, England)
Published: May 25, 2022
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Journal: American journal of medical genetics. Part A
Published: September 19, 2021
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Journal: American journal of human genetics
Published: July 02, 2021
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Journal: American journal of human genetics
Published: March 19, 2021
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Journal: Nature communications
Published: October 20, 2020
Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1.
Journal: The British journal of dermatology
Published: September 25, 2020
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Journal: Nature communications
Published: August 23, 2019
Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesis.
Journal: Journal of hepatology
Published: December 03, 2018
Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.
Journal: Neuron
Published: June 25, 2018
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Journal: International journal of molecular sciences
Published: December 09, 2016
Last Updated: 09/26/2026