Detalhe da pesquisa
1.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(6): 1140-1152, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35659929
2.
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Prenat Diagn
; 43(4): 527-543, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647814
3.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
4.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(7): 1344, 2022 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803237
5.
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
PLoS Genet
; 13(10): e1006864, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29069077
6.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hum Mutat
; 2019 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646703
7.
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.
Haemophilia
; 25(1): 127-135, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30431218
8.
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Am J Hum Genet
; 97(6): 904-13, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637980
9.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(2): 357, 2019 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735662
10.
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
J Med Genet
; 53(8): 523-32, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27075013
11.
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Hum Mutat
; 36(1): 69-78, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25265257
12.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Hum Genet
; 134(1): 97-109, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326669
13.
Central 22q11.2 deletions.
Am J Med Genet A
; 164A(11): 2707-23, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25123976
14.
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Circ Genom Precis Med
; 17(2): e004416, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516780
15.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Nat Commun
; 15(1): 1640, 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38388531
16.
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Res Sq
; 2023 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37720017
17.
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Am J Med Genet A
; 158A(11): 2733-42, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23023959
18.
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Elife
; 112022 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250618
19.
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
Eur J Hum Genet
; 29(7): 1110-1120, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33654309
20.
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.
J Clin Endocrinol Metab
; 106(2): 539-553, 2021 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141165