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1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-38479391
2.
Meta-regression of sulcal patterns, clinical and environmental factors on neurodevelopmental outcomes in participants with multiple CHD types.
Cereb Cortex
; 34(6)2024 Jun 04.
Article
in English
| MEDLINE | ID: mdl-38836834
3.
Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication.
Am J Med Genet A
; 194(2): 301-310, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37827855
4.
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Mol Genet Metab
; 139(3): 107626, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37354892
5.
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Am J Med Genet C Semin Med Genet
; 190(4): 501-509, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36448195
6.
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.
Genet Med
; 24(7): 1556-1566, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35524774
7.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35266292
8.
Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot.
Cereb Cortex
; 31(10): 4670-4680, 2021 08 26.
Article
in English
| MEDLINE | ID: mdl-34009260
9.
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.
Heart Fail Clin
; 18(1): 19-29, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34776080
10.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Am J Hum Genet
; 103(5): 786-793, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30343942
11.
Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease.
Cereb Cortex
; 30(2): 476-487, 2020 03 21.
Article
in English
| MEDLINE | ID: mdl-31216004
12.
Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome.
Circulation
; 140(3): 207-224, 2019 07 16.
Article
in English
| MEDLINE | ID: mdl-31163979
13.
Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue.
Circulation
; 140(5): 390-404, 2019 07 30.
Article
in English
| MEDLINE | ID: mdl-31311300
14.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Am Heart J
; 225: 108-119, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32480058
15.
De novo mutations in histone-modifying genes in congenital heart disease.
Nature
; 498(7453): 220-3, 2013 Jun 13.
Article
in English
| MEDLINE | ID: mdl-23665959
16.
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 96(5): 753-64, 2015 May 07.
Article
in English
| MEDLINE | ID: mdl-25892112
17.
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
Hum Mol Genet
; 24(8): 2375-89, 2015 Apr 15.
Article
in English
| MEDLINE | ID: mdl-25574029
18.
Genetic contribution to neurodevelopmental outcomes in congenital heart disease: are some patients predetermined to have developmental delay?
Curr Opin Pediatr
; 29(5): 529-533, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28719389
19.
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Proc Natl Acad Sci U S A
; 111(31): 11473-8, 2014 Aug 05.
Article
in English
| MEDLINE | ID: mdl-25049390
20.
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Hum Mol Genet
; 23(16): 4315-27, 2014 Aug 15.
Article
in English
| MEDLINE | ID: mdl-24705357