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1.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet
; 110(8): 1414-1435, 2023 08 03.
Article
in English
| MEDLINE | ID: mdl-37541189
2.
Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.
J Struct Biol
; 213(1): 107681, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33316326
3.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30679821
4.
Clinical and molecular spectrum of CHOPS syndrome.
Am J Med Genet A
; 179(7): 1126-1138, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31058441
5.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genet Med
; 20(12): 1663-1676, 2018 12.
Article
in English
| MEDLINE | ID: mdl-29907799
6.
A Centralized Approach for Practicing Genomic Medicine.
Pediatrics
; 145(3)2020 03.
Article
in English
| MEDLINE | ID: mdl-32102930
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