Detalhe da pesquisa
1.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732226
2.
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Hum Genet
; 140(10): 1459-1469, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436670
3.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med
; 376(8): 742-754, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28121514
4.
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
PLoS Biol
; 14(3): e1002416, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982032
5.
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Am J Hum Genet
; 96(6): 955-61, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26004201
6.
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
J Med Genet
; 54(6): 371-380, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28289185
7.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 28(10): 2901-2914, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28566479
8.
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Hum Mol Genet
; 22(12): 2387-99, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23427148
9.
TCTN3 mutations cause Mohr-Majewski syndrome.
Am J Hum Genet
; 91(2): 372-8, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22883145
10.
A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
Am J Med Genet A
; 167(6): 1275-84, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900228
11.
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Hum Mutat
; 35(4): 478-85, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24470203
12.
Fetal phenotype associated with the 22q11 deletion.
Am J Med Genet A
; 164A(11): 2724-31, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25111715
13.
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Am J Med Genet C Semin Med Genet
; 163C(2): 92-105, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606591
14.
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Acta Neuropathol
; 126(3): 427-42, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23820807
15.
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature.
Birth Defects Res A Clin Mol Teratol
; 97(3): 123-32, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23526679
16.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Brain
; 135(Pt 2): 469-82, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22323514
17.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
J Med Genet
; 49(12): 737-46, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23188108
18.
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
J Med Genet
; 48(7): 497-504, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21490379
19.
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Eur J Hum Genet
; 30(8): 967-975, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577939
20.
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.
Arch Dis Child Fetal Neonatal Ed
; 105(4): 387-392, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31641027