Detalhe da pesquisa
1.
Increased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction.
Circ Res
; 133(2): 177-192, 2023 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37325910
2.
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Am J Hum Genet
; 108(7): 1342-1349, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34143952
3.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34186028
4.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
5.
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Blood
; 140(17): 1858-1874, 2022 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35789258
6.
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
Am J Med Genet A
; 194(6): e63548, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38264805
7.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
; 60(11): 1092-1104, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316189
8.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032513
9.
NOTCH1 loss of the TAD and PEST domain: An antimorph?
Am J Med Genet A
; 191(6): 1593-1598, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36866832
10.
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.
Am J Med Genet A
; 191(8): 2219-2224, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196051
11.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
J Inherit Metab Dis
; 2023 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069502
12.
Macrocytosis in Mitochondrial DNA Deletion Syndromes.
Acta Haematol
; 146(3): 220-225, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36774923
13.
Novel CIC variants identified in individuals with neurodevelopmental phenotypes.
Hum Mutat
; 43(7): 889-899, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165976
14.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827496
15.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet
; 105(2): 283-301, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353023
16.
Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population.
Mol Genet Metab
; 137(4): 420-427, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34364746
17.
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
Am J Med Genet A
; 188(10): 3089-3095, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35946377
18.
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Prenat Diagn
; 42(12): 1514-1524, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36068917
19.
Incidentally identified left ventricular apical aneurysm in a patient with Fabry disease.
Echocardiography
; 39(8): 1131-1137, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768900
20.
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
Neurogenetics
; 22(4): 251-262, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34213677