Detalhe da pesquisa
1.
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.
J Med Genet
; 60(1): 99-105, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35264407
2.
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
J Med Genet
; 59(8): 759-767, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321325
3.
Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements.
Mol Genet Genomics
; 297(4): 925-933, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488049
4.
Essential Role of BRCA2 in Ovarian Development and Function.
N Engl J Med
; 379(11): 1042-1049, 2018 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30207912
5.
Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing.
Genet Med
; 23(7): 1334-1340, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772222
6.
Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?
J Assist Reprod Genet
; 38(3): 719-725, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443723
7.
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Neurogenetics
; 21(4): 259-267, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32462292
8.
What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?
Acta Obstet Gynecol Scand
; 99(6): 757-764, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31424084
9.
The yield of chromosomal microarray testing for cases of abnormal fetal head circumference.
J Perinat Med
; 48(6): 553-558, 2020 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721143
10.
Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy.
Genet Med
; 21(6): 1390-1399, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449887
11.
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
J Med Genet
; 55(9): 599-606, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29764912
12.
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
N Engl J Med
; 370(10): 921-31, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24552285
13.
The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-ß precursor protein-dependent mechanism.
J Neurosci
; 35(3): 936-42, 2015 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25609612
14.
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
J Med Genet
; 52(9): 636-41, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26070314
15.
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
Am J Hum Genet
; 88(2): 193-200, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21255763
16.
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
Am J Hum Genet
; 89(4): 572-9, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21963259
17.
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.
Proc Natl Acad Sci U S A
; 108(45): 18313-7, 2011 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22042873
18.
SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.
Sci Rep
; 13(1): 18036, 2023 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865712
19.
Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group.
Blood
; 115(5): 1006-17, 2010 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-19965641
20.
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
Am J Med Genet A
; 155A(11): 2801-6, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990102