Detalhe da pesquisa
1.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
2.
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Brain
; 146(5): 1804-1811, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36349561
3.
A wave of deep intronic mutations in X-linked Alport syndrome.
Kidney Int
; 104(2): 367-377, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37230224
4.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Am J Hum Genet
; 106(6): 779-792, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413283
5.
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
Hum Reprod
; 38(5): 992-1002, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952633
6.
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.
Nucleic Acids Res
; 49(W1): W93-W103, 2021 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34019647
7.
Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect.
Blood
; 136(5): 542-552, 2020 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32356861
8.
Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation.
Blood
; 135(6): 441-448, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31826245
9.
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Hum Mol Genet
; 28(16): 2720-2737, 2019 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31042281
10.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
Am J Hum Genet
; 102(2): 266-277, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395073
11.
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Blood
; 134(3): 277-290, 2019 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31151987
12.
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS Genet
; 14(10): e1007748, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30365502
13.
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS Genet
; 14(5): e1007386, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29768408
14.
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
Hum Mol Genet
; 27(2): 266-282, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29121203
15.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Am J Hum Genet
; 101(4): 630-637, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965846
16.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet
; 101(5): 803-814, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100091
17.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Am J Hum Genet
; 100(2): 323-333, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28089251
18.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Am J Hum Genet
; 101(2): 283-290, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28757203
19.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Am J Hum Genet
; 100(4): 592-604, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28285769
20.
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Am J Hum Genet
; 101(6): 995-1005, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198722