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1.
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.
Genet Med
; 26(1): 101006, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37869996
2.
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Am J Hum Genet
; 105(4): 719-733, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31564432
3.
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.
Pediatr Crit Care Med
; 20(11): 1007-1020, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31246743
4.
NGL-2 regulates pathway-specific neurite growth and lamination, synapse formation, and signal transmission in the retina.
J Neurosci
; 33(29): 11949-59, 2013 Jul 17.
Article
in English
| MEDLINE | ID: mdl-23864682
5.
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Cold Spring Harb Mol Case Stud
; 8(6)2022 10.
Article
in English
| MEDLINE | ID: mdl-36307211
6.
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Sci Transl Med
; 11(489)2019 04 24.
Article
in English
| MEDLINE | ID: mdl-31019026
7.
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1.
Cold Spring Harb Mol Case Stud
; 4(3)2018 06.
Article
in English
| MEDLINE | ID: mdl-29437776
8.
Forebrain AVT and courtship in a fish with male alternative reproductive tactics.
Brain Res Bull
; 57(3-4): 423-5, 2002.
Article
in English
| MEDLINE | ID: mdl-11923002
9.
Clavulanic acid reduces rewarding, hyperthermic and locomotor-sensitizing effects of morphine in rats: a new indication for an old drug?
Drug Alcohol Depend
; 142: 41-5, 2014 Sep 01.
Article
in English
| MEDLINE | ID: mdl-24998018
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