Detalhe da pesquisa
1.
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Cell
; 176(6): 1310-1324.e10, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827684
2.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
3.
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Am J Med Genet A
; 185(7): 1972-1980, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33797191
4.
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Am J Med Genet A
; 185(12): 3593-3600, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048444
5.
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Hum Mutat
; 41(1): 182-195, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31471994
6.
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Hum Mol Genet
; 27(11): 1913-1926, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29566152
7.
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Am J Hum Genet
; 100(1): 117-127, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017373
8.
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Am J Hum Genet
; 99(4): 886-893, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616478
9.
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Nucleic Acids Res
; 45(4): 1633-1648, 2017 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27980096
10.
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Am J Hum Genet
; 97(6): 904-13, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637980
11.
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Am J Med Genet A
; 176(4): 1015-1022, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436111
12.
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
Am J Med Genet A
; 173(9): 2451-2455, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28631899
13.
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Brain
; 143(10): e83, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33011761
14.
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Am J Med Genet A
; 167A(11): 2795-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26238661
15.
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS).
JBMR Plus
; 4(3): e10335, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32161841
16.
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Ann Clin Transl Neurol
; 7(5): 610-627, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32286009
17.
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Ann Clin Transl Neurol
; 6(8): 1395-1406, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31402629
18.
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Ann Clin Transl Neurol
; 5(10): 1277-1285, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349862
19.
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Genome Med
; 8(1): 106, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27799064
20.
Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.
Fertil Steril
; 104(2): 286-91, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25956372