Detalhe da pesquisa
1.
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Am J Hum Genet
; 110(9): 1470-1481, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37582359
2.
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Hum Genet
; 143(5): 683-694, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38592547
3.
AutozygosityMapper: Identification of disease-mutations in consanguineous families.
Nucleic Acids Res
; 50(W1): W83-W89, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35489060
4.
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.
Proc Natl Acad Sci U S A
; 118(2)2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33402532
5.
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Am J Hum Genet
; 106(6): 872-884, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470376
6.
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise.
Bioinformatics
; 38(16): 3871-3876, 2022 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751599
7.
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
em Inglês
| MEDLINE | ID: mdl-34379057
8.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet
; 105(3): 631-639, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353024
9.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 24(10): 2187-2193, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962790
10.
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.
Genet Med
; 24(9): 1927-1940, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670808
11.
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
em Inglês
| MEDLINE | ID: mdl-35095096
12.
VarFish: comprehensive DNA variant analysis for diagnostics and research.
Nucleic Acids Res
; 48(W1): W162-W169, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338743
13.
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
14.
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
J Inherit Metab Dis
; 44(4): 972-986, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320377
15.
MutationDistiller: user-driven identification of pathogenic DNA variants.
Nucleic Acids Res
; 47(W1): W114-W120, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31106342
16.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet
; 101(5): 833-843, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100093
17.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 100(2): 216-227, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065471
18.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 21(8): 1894-1895, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201961
19.
PEDIA: prioritization of exome data by image analysis.
Genet Med
; 21(12): 2807-2814, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164752
20.
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
J Hum Genet
; 64(7): 609-616, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31015584