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1.
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
2.
New frontiers: discovering cilia-independent functions of cilia proteins.
EMBO Rep
; 16(10): 1275-87, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26358956
3.
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Hum Mutat
; 37(1): 127-34, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26467025
4.
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
J Med Genet
; 52(3): 147-56, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25564561
5.
Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.
Adv Genomics Genet
; 8: 23-33, 2018.
Article
in English
| MEDLINE | ID: mdl-31031559
6.
The cilia protein IFT88 is required for spindle orientation in mitosis.
Nat Cell Biol
; 13(4): 461-8, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21441926
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