Detalhe da pesquisa
1.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
; 26(2): 101023, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37947183
2.
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability.
Int J Mol Sci
; 25(1)2023 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38203602
3.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Hum Mol Genet
; 29(11): 1900-1921, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196547
4.
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Am J Med Genet A
; 188(10): 2869-2878, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899841
5.
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
J Med Genet
; 58(7): 453-464, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32631816
6.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Am J Med Genet A
; 185(4): 1076-1080, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33438828
7.
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.
Am J Med Genet A
; 182(10): 2291-2296, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32812332
8.
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
J Med Genet
; 56(2): 113-122, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30323019
9.
A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome.
Drug Metab Dispos
; 47(1): 45-48, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30385458
10.
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.
BMC Nephrol
; 20(1): 271, 2019 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31315584
11.
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
Am J Med Genet A
; 176(2): 415-420, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266745
12.
Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2).
J Clin Immunol
; 41(3): 680-683, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33394316
13.
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.
Cold Spring Harb Mol Case Stud
; 5(3)2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30819764
14.
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.
Eur J Med Genet
; 62(9): 103551, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30300710
15.
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.
Eur J Med Genet
; 62(11): 103574, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30439532