Search details
1.
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.
Genome Res
; 33(3): 435-447, 2023 03.
Article
in English
| MEDLINE | ID: mdl-37307504
2.
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Nucleic Acids Res
; 52(1): 114-124, 2024 Jan 11.
Article
in English
| MEDLINE | ID: mdl-38015437
3.
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
J Hum Genet
; 69(3-4): 153-157, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38216729
4.
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities.
J Hum Genet
; 69(2): 85-90, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38030753
5.
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
J Hum Genet
; 69(2): 69-77, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38012394
6.
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
J Hum Genet
; 69(3-4): 163-167, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38228874
7.
Pregnancy outcomes in patients with familial Mediterranean fever: systematic review and meta-analysis.
Rheumatology (Oxford)
; 63(2): 277-284, 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-37594755
8.
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Hum Mol Genet
; 31(1): 69-81, 2021 12 17.
Article
in English
| MEDLINE | ID: mdl-34346499
9.
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.
J Hum Genet
; 68(4): 247-253, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-36509868
10.
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
J Hum Genet
; 68(5): 363-367, 2023 May.
Article
in English
| MEDLINE | ID: mdl-36631501
11.
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.
J Hum Genet
; 68(12): 875-878, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37592133
12.
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
J Hum Genet
; 68(10): 689-697, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37308565
13.
Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.
Rheumatology (Oxford)
; 2023 Aug 22.
Article
in English
| MEDLINE | ID: mdl-37606963
14.
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Clin Genet
; 103(5): 590-595, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36576140
15.
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Brain
; 145(3): 1139-1150, 2022 04 29.
Article
in English
| MEDLINE | ID: mdl-35355059
16.
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
Genomics
; 114(5): 110469, 2022 09.
Article
in English
| MEDLINE | ID: mdl-36041634
17.
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Genomics
; 114(5): 110468, 2022 09.
Article
in English
| MEDLINE | ID: mdl-36041635
18.
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hum Genet
; 141(2): 283-293, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-35031858
19.
Monogenic causes of pigmentary mosaicism.
Hum Genet
; 141(11): 1771-1784, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-35503477
20.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35341651