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1.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38251460
2.
X-Linked intellectual disability update 2022.
Am J Med Genet A
; 191(1): 144-159, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36300573
3.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35904121
4.
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Am J Med Genet A
; 188(10): 2988-2998, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35924478
5.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(6): 1065-1074, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33547396
6.
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Mol Genet Metab
; 132(1): 27-37, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33129689
7.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat
; 41(1): 150-168, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31448840
8.
Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii.
Cytogenet Genome Res
; 160(1): 2-10, 2020.
Article
in English
| MEDLINE | ID: mdl-31865307
9.
Schimke XLID syndrome results from a deletion in BCAP31.
Am J Med Genet A
; 182(9): 2168-2174, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32681719
10.
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Hum Mutat
; 40(7): 842-864, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30882951
11.
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
J Hum Genet
; 64(6): 561-572, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-30858506
12.
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.
Am J Med Genet A
; 176(9): 1968-1971, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30113773
13.
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Genet Med
; 19(1): 13-19, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27171548
14.
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
Am J Med Genet A
; 173(5): 1219-1225, 2017 May.
Article
in English
| MEDLINE | ID: mdl-28317311
15.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(11): 2228, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-33637969
16.
New observation of sialuria prompts detection of liver tumor in previously reported patient.
Mol Genet Metab
; 118(2): 92-9, 2016 06.
Article
in English
| MEDLINE | ID: mdl-27142465
17.
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
Am J Med Genet A
; 170(12): 3313-3318, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27570168
18.
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
Am J Med Genet A
; 170(6): 1573-9, 2016 06.
Article
in English
| MEDLINE | ID: mdl-27028100
19.
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.
Mol Cell
; 31(3): 347-59, 2008 Aug 08.
Article
in English
| MEDLINE | ID: mdl-18691967
20.
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
Nat Genet
; 39(4): 451-3, 2007 Apr.
Article
in English
| MEDLINE | ID: mdl-17334363