Detalles de la búsqueda
1.
The relationship between performance on the medical genetics and genomics in-training and certifying examinations.
Genet Med
; 24(1): 225-231, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906492
2.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Brain
; 143(12): 3564-3573, 2020 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33242881
3.
Training the next generation of genomic medicine providers: trends in medical education and national assessment.
Genet Med
; 22(10): 1718-1722, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32555416
4.
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Neurogenetics
; 20(3): 129-143, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31041561
5.
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Genet Med
; 21(1): 195-206, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29915382
6.
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Genet Med
; 21(1): 233-242, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29907798
7.
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Genet Med
; 21(1): 262-265, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30097611
8.
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(10): 1105-1113, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29915380
9.
Professional medical education and genomics.
Annu Rev Genomics Hum Genet
; 15: 507-16, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24635717
10.
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Neurogenetics
; 17(3): 173-8, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27094857
11.
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Am J Hum Genet
; 93(1): 181-90, 2013 Jul 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-23830518
12.
Recommendations for the integration of genomics into clinical practice.
Genet Med
; 18(11): 1075-1084, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27171546
13.
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Am J Hum Genet
; 91(4): 608-20, 2012 Oct 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-22981120
14.
Disclosure of genetic research results to members of a founder population.
J Genet Couns
; 23(6): 984-91, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24777552
15.
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Hum Mol Genet
; 20(7): 1285-9, 2011 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-21212097
16.
Haploinsufficiency of TAB2 causes congenital heart defects in humans.
Am J Hum Genet
; 86(6): 839-49, 2010 Jun 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-20493459
17.
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Am J Hum Genet
; 86(5): 749-64, 2010 May 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-20466091
18.
Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.
Am J Med Genet A
; 161A(9): 2327-33, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23913759
19.
RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.
J Craniofac Surg
; 24(1): 126-9, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23348268
20.
Medical genetics and genomics education: how do we define success? Where do we focus our resources?
Genet Med
; 19(7): 751-753, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28617418