Detalhe da pesquisa
1.
Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.
Genet Med
; 25(1): 151-154, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609147
2.
Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.
JAMA
; 329(3): 235-243, 2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648468
3.
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.
Genet Med
; 24(3): 703-711, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906480
4.
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.
Genet Med
; 24(9): 1857-1866, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639097
5.
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
Hum Mutat
; 39(11): 1660-1667, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311381
6.
Response to van Riel et al.
Genet Med
; 25(1): 161-163, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609148
7.
Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.
Prenat Diagn
; 37(1): 37-42, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862088
8.
Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax.
Am J Med Genet A
; 185(6): 1922-1924, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33666332
9.
Clinicians' experiences with the fragile X clinical and research consortium.
Am J Med Genet A
; 170(12): 3138-3143, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604509
10.
Genetic Counselors' and Genetic Counseling Students' Attitudes Around the Clinical Doctorate and Other Advanced Educational Options for Genetic Counselors: A Report from the Genetic Counseling Advanced Degree Task Force.
J Genet Couns
; 24(4): 626-34, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25352337
11.
A survey of seizures and current treatments in 15q duplication syndrome.
Epilepsia
; 55(3): 396-402, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24502430
12.
Mutations in RAI1 associated with Smith-Magenis syndrome.
Nat Genet
; 33(4): 466-8, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12652298
13.
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
JAMA Pediatr
; 177(5): 472-478, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36877506
14.
Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population.
Am J Psychiatry
; 180(1): 65-72, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36475376
15.
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.
Genes (Basel)
; 14(1)2023 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672911
16.
Introduction to the special issue on developmental disabilities.
J Genet Couns
; 21(6): 749-51, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23054335
17.
Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
J Genet Couns
; 21(6): 752-60, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22797890
18.
Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.
Am J Psychiatry
; 179(3): 189-203, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35236119
19.
Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders.
Genet Med
; 18(4): 302-4, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26158229
20.
Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation.
Curr Opin Genet Dev
; 68: 1-8, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33434711