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1.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Am J Hum Genet;
110(11): 1919-1937, 2023 11 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37827158
2.
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Hum Mol Genet;
32(9): 1429-1438, 2023 04 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-36440975
3.
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
4.
Anatomy of DNA methylation signatures: Emerging insights and applications.
Am J Hum Genet;
108(8): 1359-1366, 2021 08 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34297908
5.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet;
108(6): 1053-1068, 2021 06 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33909990
6.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med;
26(2): 101012, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37924259
7.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Am J Med Genet A;
194(3): e63466, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-37949664
8.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain;
146(6): 2285-2297, 2023 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36477332
9.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet;
106(5): 596-610, 2020 05 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32243864
10.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet;
107(2): 352-363, 2020 08 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32693025
11.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet;
107(2): 311-324, 2020 08 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32738225
12.
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Genet Med;
24(2): 430-438, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906486
13.
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.
Am J Med Genet A;
188(5): 1368-1375, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35043535
14.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A;
185(6): 1649-1665, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33783954
15.
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Am J Hum Genet;
100(5): 773-788, 2017 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28475860
16.
Epigenetic signatures in overgrowth syndromes: Translational opportunities.
Am J Med Genet C Semin Med Genet;
181(4): 491-501, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31828978
17.
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Am J Med Genet A;
179(10): 2049-2055, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31400068
18.
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
J Med Genet;
55(5): 316-321, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29599419
19.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med;
20(4): 435-443, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28771251
20.
Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.
Am J Med Genet A;
170(10): 2731-9, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27374371