Detalhe da pesquisa
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
2.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
; 147(4): 1436-1456, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37951597
3.
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
4.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Genet Med
; 26(5): 101097, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38334070
5.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet
; 107(1): 34-45, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497488
6.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med
; 25(8): 100885, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165955
7.
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Am J Hum Genet
; 104(6): 1139-1157, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155282
8.
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Am J Hum Genet
; 105(2): 395-402, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353022
9.
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Clin Genet
; 100(6): 766-770, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490615
10.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761064
11.
Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear ß-catenin signaling.
J Neurochem
; 155(3): 250-263, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202324
12.
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Am J Hum Genet
; 100(1): 117-127, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017373
13.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 99(4): 991-999, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693232
14.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
; 99(3): 711-719, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545680
15.
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Am J Med Genet A
; 179(10): 2056-2066, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31407851
16.
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
Neurogenetics
; 19(3): 151-156, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29808465
17.
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.
Am J Med Genet A
; 176(4): 992-996, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575616
18.
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.
Am J Med Genet A
; 170(7): 1813-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27144914
19.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 100(1): 179, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28061364
20.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Eur J Hum Genet
; 31(4): 461-468, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747006