Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
2.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Am J Hum Genet
; 109(11): 2068-2079, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36283405
3.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582790
4.
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
5.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet
; 100(2): 343-351, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132692
6.
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Am J Med Genet A
; 182(1): 38-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31782611
7.
Mechanisms for Complex Chromosomal Insertions.
PLoS Genet
; 12(11): e1006446, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27880765
8.
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Hum Genet
; 137(6-7): 553-567, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30019117
9.
Corrigendum: Myc and SAGA rewire an alternative splicing network during early somatic cell reprogramming.
Genes Dev
; 29(12): 1341, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26109054
10.
TRIM24 suppresses development of spontaneous hepatic lipid accumulation and hepatocellular carcinoma in mice.
J Hepatol
; 62(2): 371-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25281858
11.
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Am J Med Genet A
; 167A(9): 2132-7, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846457
12.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
J Allergy Clin Immunol
; 143(6): 2296-2299, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30771411
13.
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.
Neurol Genet
; 7(3): e589, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33977145
14.
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Parkinsonism Relat Disord
; 82: 84-86, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33260061
15.
Human NK cell deficiency as a result of biallelic mutations in MCM10.
J Clin Invest
; 130(10): 5272-5286, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32865517
16.
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Eur J Hum Genet
; 28(9): 1243-1264, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376988
17.
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Eur J Hum Genet
; 26(9): 1294-1305, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29748569
18.
First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.
Front Pediatr
; 5: 17, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28239602