Detalhe da pesquisa
1.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Am J Med Genet A
; 188(8): 2360-2366, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751429
2.
Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
Pediatr Blood Cancer
; 69(11): e29859, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35713195
3.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656860
4.
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
5.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 101(5): 716-724, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100085
6.
Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity.
Mod Pathol
; 33(6): 1157-1164, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534204
7.
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
PLoS Genet
; 13(7): e1006905, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742085
8.
Pediatric NCOA3-rearranged low-grade fibroblastic tumor with nuclear beta-catenin immunoreactivity.
Genes Chromosomes Cancer
; 63(2): e23223, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38340030
9.
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Am J Hum Genet
; 98(3): 562-570, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942288
10.
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
11.
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Am J Hum Genet
; 98(2): 347-57, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805781
12.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 704-710, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523599
13.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27640307
14.
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
15.
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
16.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 102(1): 196, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304375
17.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 786, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588455
18.
Pineal teratoma with nephroblastic component in a newborn male: Case report and review of the literature.
J Clin Neurosci
; 80: 207-214, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33099347
19.
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
20.
Lessons learned from additional research analyses of unsolved clinical exome cases.
Genome Med
; 9(1): 26, 2017 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28327206