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1.
A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.
Chromosome Res
; 32(2): 6, 2024 03 19.
Article
in English
| MEDLINE | ID: mdl-38504027
2.
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Ann Hum Genet
; 88(2): 113-125, 2024 03.
Article
in English
| MEDLINE | ID: mdl-37807935
3.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Am J Hum Genet
; 108(2): 337-345, 2021 02 04.
Article
in English
| MEDLINE | ID: mdl-33434492
4.
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Am J Med Genet A
; 194(6): e63544, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38258498
5.
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.
J Pediatr
; 252: 56-60.e2, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36067875
6.
SCAF4-related syndromic intellectual disability.
Am J Med Genet A
; 191(2): 570-574, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36333968
7.
Genetic investigation of syndromic forms of obesity.
Int J Obes (Lond)
; 46(9): 1582-1586, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35597848
8.
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Genet Med
; 24(11): 2262-2273, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36112137
9.
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Clin Genet
; 101(1): 134-141, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34664255
10.
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing.
Ann Hum Genet
; 85(1): 18-26, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32761927
11.
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
Clin Genet
; 100(5): 615-623, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34341987
12.
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Hum Reprod
; 36(2): 506-518, 2021 01 25.
Article
in English
| MEDLINE | ID: mdl-33313884
13.
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
Nat Chem Biol
; 15(1): 62-70, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30531907
14.
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Am J Med Genet A
; 185(8): 2335-2344, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33988290
15.
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Hum Mutat
; 41(11): 1979-1998, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32906200
16.
Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation.
Tumour Biol
; 42(12): 1010428320977124, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33256542
17.
Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion.
Chromosome Res
; 26(3): 191-198, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29752677
18.
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
Clin Endocrinol (Oxf)
; 88(3): 425-431, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29265571
19.
Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain.
Neural Plast
; 2018: 2406170, 2018.
Article
in English
| MEDLINE | ID: mdl-30050570
20.
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Am J Hum Genet
; 95(5): 565-78, 2014 Nov 06.
Article
in English
| MEDLINE | ID: mdl-25439725