Associated Papers
Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.
Briggs L et al.
American Journal of Respiratory and Critical Care Medicine, 2025
40758541 (PubMed )
Supplement: briggs_data_supplement.pdf
Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome.
Melo M et al.
Hgg Advances, 2025
40814173 (PubMed )
Supplement: mmc1.pdf
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark A et al.
The European Respiratory Journal, 2022
A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia.
Feng G et al.
Internal Medicine (tokyo, Japan), 2022
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
Bustamante-Marin XM et al.
American Journal of Human Genetics, 2019
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096
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