Detalhe da pesquisa
1.
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Hum Genet
; 2024 Apr 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38592547
2.
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Am J Hum Genet
; 106(6): 872-884, 2020 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32470376
3.
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
Am J Hum Genet
; 107(3): 403-417, 2020 09 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32755546
4.
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise.
Bioinformatics
; 38(16): 3871-3876, 2022 08 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35751599
5.
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet
; 59(7): 662-668, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34379057
6.
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Hum Genet
; 141(11): 1785-1794, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35536377
7.
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome).
J Hum Genet
; 67(7): 405-410, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-35095096
8.
VarFish: comprehensive DNA variant analysis for diagnostics and research.
Nucleic Acids Res
; 48(W1): W162-W169, 2020 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32338743
9.
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
Inglês
| MEDLINE | ID: mdl-34436670
10.
Genome sequencing in families with congenital limb malformations.
Hum Genet
; 140(8): 1229-1239, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-34159400
11.
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Genet Med
; 23(6): 1050-1057, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33495529
12.
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Clin Genet
; 100(6): 758-765, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34482537
13.
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
J Inherit Metab Dis
; 44(4): 972-986, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33320377
14.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Brain
; 143(12): 3564-3573, 2020 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33242881
15.
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Am J Med Genet A
; 182(9): 2068-2076, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32592542
16.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30679821
17.
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Clin Genet
; 96(6): 549-559, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31568572
18.
HLA-MA: simple yet powerful matching of samples using HLA typing results.
Bioinformatics
; 33(14): 2241-2242, 2017 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28334360
19.
Methods for the detection and assembly of novel sequence in high-throughput sequencing data.
Bioinformatics
; 31(12): 1904-12, 2015 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25649620
20.
Fiona: a parallel and automatic strategy for read error correction.
Bioinformatics
; 30(17): i356-63, 2014 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25161220