Detalhe da pesquisa
1.
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Cell
; 154(3): 505-17, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911318
2.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948005
3.
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38743093
4.
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Am J Hum Genet
; 108(7): 1318-1329, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34077761
5.
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.
Clin Genet
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553872
6.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Clin Genet
; 105(6): 620-629, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356149
7.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genet Med
; 25(7): 100836, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013901
8.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Genet Med
; 25(2): 100323, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401616
9.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
10.
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Am J Hum Genet
; 105(6): 1237-1253, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31785787
11.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Am J Hum Genet
; 105(5): 907-920, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607425
12.
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
Am J Med Genet A
; 188(10): 2932-2940, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861185
13.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Hum Mutat
; 42(10): 1221-1228, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212438
14.
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
Hum Genet
; 140(9): 1395-1401, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313816
15.
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Am J Hum Genet
; 102(1): 188-195, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304374
16.
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Am J Hum Genet
; 102(4): 696-705, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29606302
17.
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Am J Hum Genet
; 102(5): 858-873, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727687
18.
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
J Hum Genet
; 66(7): 689-695, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33500540
19.
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.
Hepatology
; 71(6): 2067-2079, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595528
20.
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Am J Med Genet A
; 185(8): 2455-2463, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963797