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1.
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature;
557(7706): 564-569, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29769720
2.
Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature;
561(7722): E7, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29977062
3.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet;
104(2): 213-228, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639323
4.
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
Haematologica;
104(8): 1554-1564, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655378
5.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Brain;
2018 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30508070
6.
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Prenat Diagn;
39(10): 871-882, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31172545
7.
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Prenat Diagn;
39(6): 464-470, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896039
8.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med;
2018 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190612
9.
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Brain;
140(10): 2597-2609, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969387
10.
Placental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups.
Fetal Pediatr Pathol;
37(6): 387-399, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30633605
11.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet;
23(9): 2279-89, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319099
12.
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Prenat Diagn;
36(8): 744-51, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27297286
13.
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
Prenat Diagn;
35(1): 35-43, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118001
14.
Constitutional telomeric association (Y;7) in a patient with a female phenotype.
Am J Med Genet A;
161A(6): 1436-41, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613342
15.
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Am J Med Genet A;
158A(7): 1633-40, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678713
16.
Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability.
J Med Genet;
48(9): 635-9, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21617255
17.
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.
Am J Med Genet A;
152A(8): 1933-41, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20635369
18.
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
NPJ Genom Med;
4: 16, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31285849
19.
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
Eur J Hum Genet;
26(12): 1784-1790, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30135486
20.
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
Eur J Hum Genet;
25(8): 930-934, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28612834