Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
2.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 111(6): 1206-1221, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772379
3.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567594
4.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346573
5.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346159
6.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658631
7.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Hum Mol Genet
; 27(17): 3029-3045, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29878199
8.
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Am J Hum Genet
; 101(2): 300-310, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777935
9.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med
; 22(3): 538-546, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31723249
10.
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.
Genet Med
; 21(7): 1559-1567, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30425301
11.
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Hum Genet
; 137(5): 375-388, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740699
12.
PLS3 mutations in X-linked osteoporosis with fractures.
N Engl J Med
; 369(16): 1529-36, 2013 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24088043
13.
Collodion babies: A 15-year retrospective multicenter study in The Netherlands-Evaluation of severity scores to predict the underlying disease.
J Am Acad Dermatol
; 84(4): 1111-1113, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32534952
14.
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
15.
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
Am J Med Genet C Semin Med Genet
; 160C(3): 205-16, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22791362
16.
Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.
Am J Med Genet A
; 158A(2): 292-7, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22140078
17.
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Eur J Hum Genet
; 29(9): 1384-1395, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33594261
18.
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
Front Neurol
; 12: 668640, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163424
19.
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Hum Mutat
; 31(8): E1587-93, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20648631
20.
Osteoporotic vertebral fractures during pregnancy: be aware of a potential underlying genetic cause.
J Clin Endocrinol Metab
; 99(4): 1107-11, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24423337