Detalhe da pesquisa
1.
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.
N Engl J Med
; 385(14): 1292-1301, 2021 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587386
2.
Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.
Clin Genet
; 105(2): 196-201, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850357
3.
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Clin Genet
; 105(5): 510-522, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221827
4.
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
Hum Genet
; 142(3): 379-397, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36538041
5.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Hum Genet
; 142(7): 949-964, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198333
6.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119330
7.
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Clin Genet
; 102(5): 444-450, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908151
8.
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Clin Genet
; 101(2): 247-254, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708404
9.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Ann Neurol
; 89(3): 485-497, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33236446
10.
Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.
J Am Soc Nephrol
; 32(1): 223-228, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33020172
11.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875846
12.
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
Clin Genet
; 99(2): 303-308, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131077
13.
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
Clin Genet
; 99(4): 513-518, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33354762
14.
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.
Am J Med Genet A
; 185(2): 384-389, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33166031
15.
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
Clin Genet
; 98(1): 56-63, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32323311
16.
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Genet Med
; 21(1): 53-61, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100613
17.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Hum Genet
; 137(9): 753-768, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167850
18.
Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
J Hum Genet
; 63(4): 539, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576627
19.
Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.
Mov Disord
; 38(3): 502-504, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36781603
20.
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
J Hum Genet
; 61(3): 229-33, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26607181