Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
3.
Bone Microarchitecture and Strength Changes During Teriparatide and Zoledronic Acid Treatment in a Patient with Pregnancy and Lactation-Associated Osteoporosis with Multiple Vertebral Fractures.
Calcif Tissue Int
; 112(5): 621-627, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36764958
4.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
; 191(1): 135-143, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271811
5.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904121
6.
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Brain
; 142(11): 3351-3359, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504246
7.
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Prenat Diagn
; 40(8): 972-983, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333414
8.
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Am J Hum Genet
; 98(6): 1249-1255, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236917
9.
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
Am J Med Genet A
; 170(7): 1874-80, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27109146
10.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A
; 167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604898
11.
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
HGG Adv
; 5(3): 100289, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38571311
12.
Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics.
Hum Mutat
; 34(10): 1322-8, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23784691
13.
From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.
Biomolecules
; 13(2)2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36830650
14.
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Epigenomics
; 15(6): 351-367, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249002
15.
PPIB mutations cause severe osteogenesis imperfecta.
Am J Hum Genet
; 85(4): 521-7, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19781681
16.
Genetics of dementia: update and guidelines for the clinician.
Am J Med Genet B Neuropsychiatr Genet
; 159B(6): 628-43, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22815225
17.
Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study.
Front Endocrinol (Lausanne)
; 13: 869604, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35546999
18.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
HGG Adv
; 3(1): 100075, 2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047860
19.
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
J Med Genet
; 47(3): 169-75, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19846429
20.
Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy.
Front Med (Lausanne)
; 8: 737936, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34733861