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1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Article
in English
| MEDLINE | ID: mdl-38815585
2.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32681751
3.
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.
Article
in English
| MEDLINE | ID: mdl-27545680
4.
Pitfalls of clinical exome and gene panel testing: alternative transcripts.
Genet Med
; 21(5): 1240-1245, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30293991
5.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genet Med
; 20(1): 98-108, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28661489
6.
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Genet Med
; 19(12): 1367-1375, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28617419
7.
Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts.
Genet Med
; 23(11): 2229, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-33941885
8.
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).
Am J Med Genet A
; 167A(9): 2075-84, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-25959030
9.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
HGG Adv
; 3(1): 100074, 2022 Jan 13.
Article
in English
| MEDLINE | ID: mdl-35047859
10.
A case study of atypical Larsen syndrome with absent hallmark joint dislocations.
Mol Genet Genomic Med
; 7(5): e648, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30916490
11.
Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause.
Allergy Asthma Clin Immunol
; 15: 32, 2019.
Article
in English
| MEDLINE | ID: mdl-31131012
12.
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
Mol Genet Genomic Med
; 7(5): e629, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30829465
13.
Cryptic chromosomal abnormalities identified in children with congenital heart disease.
Pediatr Res
; 64(4): 358-63, 2008 Oct.
Article
in English
| MEDLINE | ID: mdl-18535492
14.
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures.
Cold Spring Harb Mol Case Stud
; 4(3)2018 06.
Article
in English
| MEDLINE | ID: mdl-29444904
15.
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.
Mol Genet Genomic Med
; 6(2): 200-212, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29368431
16.
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.
Cold Spring Harb Mol Case Stud
; 3(6)2017 Nov.
Article
in English
| MEDLINE | ID: mdl-28701297
17.
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
J Neurol
; 262(9): 2124-34, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26100331
18.
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.
Am J Clin Nutr
; 93(1): 47-56, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21048060
19.
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Nat Genet
; 43(9): 883-6, 2011 Aug 14.
Article
in English
| MEDLINE | ID: mdl-21841779
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