Detalhe da pesquisa
1.
On the reproductive capabilities of aneuploid human preimplantation embryos.
Am J Hum Genet
; 109(9): 1572-1581, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36055209
2.
Limits imposed by the experimental design of a large prospective non-inferiority study on PGT-A invalidate many of the conclusions.
Hum Reprod
; 37(12): 2735-2742, 2022 11 24.
Artigo
Inglês
| MEDLINE | ID: mdl-36287636
3.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Hum Mol Genet
; 27(19): 3305-3312, 2018 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29917077
4.
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.
Am J Hum Genet
; 100(4): 666-675, 2017 Apr 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28318500
5.
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
Am J Med Genet A
; 176(1): 92-98, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29130579
6.
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Am J Hum Genet
; 95(4): 445-53, 2014 Oct 02.
Artigo
Inglês
| MEDLINE | ID: mdl-25262649
7.
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.
J Med Genet
; 53(10): 690-6, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27208207
8.
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.
J Med Genet
; 53(6): 389-96, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26792856
9.
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.
J Med Genet
; 53(2): 132-7, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26545878
10.
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
Neurogenetics
; 17(4): 219-225, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27307223
11.
Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.
J Med Genet
; 52(11): 749-53, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26307567
12.
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
J Med Genet
; 52(9): 627-35, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26185144
13.
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
J Med Genet
; 52(8): 541-7, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26041762
14.
SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts.
J Assist Reprod Genet
; 33(8): 1115-9, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27241531
15.
Genetic loss of SH2B3 in acute lymphoblastic leukemia.
Blood
; 122(14): 2425-32, 2013 Oct 03.
Artigo
Inglês
| MEDLINE | ID: mdl-23908464
16.
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
J Med Genet
; 50(11): 733-9, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24031089
17.
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
J Med Genet
; 50(4): 240-5, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23393310
18.
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
Ann Neurol
; 71(4): 569-72, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22522446
19.
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.
J Med Genet
; 49(11): 708-12, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23042809
20.
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
Am J Med Genet A
; 158A(2): 298-308, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22147502