Search details
1.
The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy.
Annu Rev Genomics Hum Genet
; 22: 285-307, 2021 08 31.
Article
in English
| MEDLINE | ID: mdl-33900788
2.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32906214
3.
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
Genet Med
; 21(11): 2496-2503, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31056551
4.
Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society.
Hum Mutat
; 35(4): 505-10, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24470180
5.
Mody-3: novel HNF1A mutation and the utility of glucagon-like peptide (GLP)-1 receptor agonist therapy.
Endocr Pract
; 20(2): 107-11, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24014008
6.
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.
J Peripher Nerv Syst
; 17(1): 132-4, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22462675
7.
Clinical characterization of bvFTD due to FUS neuropathology.
Neurocase
; 18(4): 305-17, 2012.
Article
in English
| MEDLINE | ID: mdl-22060063
8.
Interpersonal traits change as a function of disease type and severity in degenerative brain diseases.
J Neurol Neurosurg Psychiatry
; 82(7): 732-9, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21172858
9.
Detecting sarcasm from paralinguistic cues: anatomic and cognitive correlates in neurodegenerative disease.
Neuroimage
; 47(4): 2005-15, 2009 Oct 01.
Article
in English
| MEDLINE | ID: mdl-19501175
10.
Extrastriate body area in human occipital cortex responds to the performance of motor actions.
Nat Neurosci
; 7(5): 542-8, 2004 May.
Article
in English
| MEDLINE | ID: mdl-15107859
11.
Structural anatomy of empathy in neurodegenerative disease.
Brain
; 129(Pt 11): 2945-56, 2006 Nov.
Article
in English
| MEDLINE | ID: mdl-17008334
12.
Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.
PLoS One
; 12(11): e0187926, 2017.
Article
in English
| MEDLINE | ID: mdl-29145497
13.
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Neurology
; 87(1): 77-85, 2016 07 05.
Article
in English
| MEDLINE | ID: mdl-27281533
14.
Functional organization of human intraparietal and frontal cortex for attending, looking, and pointing.
J Neurosci
; 23(11): 4689-99, 2003 Jun 01.
Article
in English
| MEDLINE | ID: mdl-12805308
15.
A functional MRI study of preparatory signals for spatial location and objects.
Neuropsychologia
; 43(14): 2041-56, 2005.
Article
in English
| MEDLINE | ID: mdl-16243051
16.
Neural substrates of spontaneous narrative production in focal neurodegenerative disease.
Neuropsychologia
; 79(Pt A): 158-71, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26485159
17.
Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.
Mitochondrion
; 23: 64-70, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-26022780
18.
Neural substrates of socioemotional self-awareness in neurodegenerative disease.
Brain Behav
; 4(2): 201-14, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24683513
19.
Corrigendum to "Spontaneous narrative production in focal neurodegenerative disease" [Neuropsychologia 97 (2015) 158-171].
Neuropsychologia
; 113: 150, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29544696
20.
Neuropsychological correlates of dominance, warmth, and extraversion in neurodegenerative disease.
Cortex
; 48(6): 674-82, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-21470601