Detalhe da pesquisa
1.
A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.
Proc Natl Acad Sci U S A
; 117(36): 22113-22121, 2020 09 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32843346
2.
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Am J Hum Genet
; 104(1): 179-185, 2019 01 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30595371
3.
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Am J Hum Genet
; 105(1): 48-64, 2019 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31178128
4.
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.
Prenat Diagn
; 42(7): 881-889, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34132406
5.
Bacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation.
J Clin Immunol
; 41(1): 147-162, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33111199
6.
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
J Inherit Metab Dis
; 44(3): 606-617, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33190319
7.
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
Metab Brain Dis
; 36(4): 581-588, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33471299
8.
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
PLoS Genet
; 14(8): e1007602, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30148830
9.
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
Am J Hum Genet
; 101(2): 267-273, 2017 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28777933
10.
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.
Am J Hum Genet
; 101(2): 291-299, 2017 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28777934
11.
Grandparental genotyping enhances exome variant interpretation.
Am J Med Genet A
; 182(4): 689-696, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32027463
12.
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.
Metab Brain Dis
; 34(2): 557-563, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30637540
13.
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.
Neurogenetics
; 19(4): 227-235, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30043326
14.
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
15.
Congenital valvular defects associated with deleterious mutations in the PLD1 gene.
J Med Genet
; 54(4): 278-286, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27799408
16.
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.
J Med Genet
; 54(3): 196-201, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27694521
17.
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.
Neurogenetics
; 18(1): 57-61, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28058510
18.
Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.
Am J Med Genet A
; 173(9): 2539-2544, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28686357
19.
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
20.
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
J Med Genet
; 53(2): 127-31, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26561570