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1.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet;
109(10): 1867-1884, 2022 10 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36130591
2.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med;
26(5): 101076, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38258669
3.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry;
28(2): 668-697, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36385166
4.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Am J Med Genet C Semin Med Genet;
193(3): e32056, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37654076
5.
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.
Clin Genet;
103(6): 681-687, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36688272
6.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet;
104(2): 186-197, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37165752
7.
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Clin Genet;
102(1): 72-77, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35347702
8.
Experiences of non-invasive prenatal screening: A survey study.
Aust N Z J Obstet Gynaecol;
62(2): 241-249, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34570369
9.
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Hum Mutat;
42(7): 835-847, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33847015
10.
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Hum Mol Genet;
28(4): 598-614, 2019 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30335141
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29198722
12.
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.
Hum Mutat;
40(1): 5-24, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30328660
13.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Am J Hum Genet;
98(5): 1001-1010, 2016 05 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-27108799
14.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med;
21(9): 2160-2161, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-30696996
15.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med;
21(6): 1295-1307, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30349098
16.
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
Int J Mol Sci;
20(16)2019 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31405222
17.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Hum Mutat;
39(8): 1126-1138, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29851191
18.
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Mod Pathol;
31(7): 1116-1130, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29463882
19.
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.
BMC Biotechnol;
17(1): 90, 2017 12 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-29258477
20.
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.
Am J Med Genet A;
173(3): 753-757, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28211971