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1.
Mosaicism in Human Health and Disease.
Annu Rev Genet
; 54: 487-510, 2020 11 23.
Article
in English
| MEDLINE | ID: mdl-32916079
2.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35616647
3.
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Ann Clin Transl Neurol
; 11(5): 1250-1266, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38544359
4.
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.
Cold Spring Harb Mol Case Stud
; 6(6)2020 12.
Article
in English
| MEDLINE | ID: mdl-33335013
5.
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Sci Adv
; 5(9): eaax2166, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31579823
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