Search details
1.
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Hum Genet
; 143(3): 437-453, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38520561
2.
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7.
J Hum Genet
; 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38605133
3.
A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant.
Am J Med Genet A
; 194(1): 94-99, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37646430
4.
Noonan syndrome-like phenotype associated with an ERF frameshift variant.
Am J Med Genet A
; : e63652, 2024 May 14.
Article
in English
| MEDLINE | ID: mdl-38741564
5.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Genet Med
; 25(7): 100861, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37087635
6.
PHACES-like syndrome with TMEM260 compound heterozygous variants.
Am J Med Genet A
; 191(8): 2215-2218, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37183566
7.
Quantitative Threshold Determination of Auditory Brainstem Responses in Mouse Models.
Int J Mol Sci
; 24(14)2023 Jul 13.
Article
in English
| MEDLINE | ID: mdl-37511152
8.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35300924
9.
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Clin Genet
; 101(3): 335-345, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34958122
10.
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Am J Med Genet A
; 182(10): 2333-2344, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32803813
11.
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.
Clin Genet
; 95(6): 713-717, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30847897
12.
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant.
Am J Med Genet A
; : e63600, 2024 Mar 21.
Article
in English
| MEDLINE | ID: mdl-38513146
13.
A Japanese patient with RAD51-associated Fanconi anemia.
Am J Med Genet A
; 179(6): 900-902, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30907510
14.
A Novel method for the simultaneous identification of methylcytosine and hydroxymethylcytosine at a single base resolution.
Nucleic Acids Res
; 45(4): e24, 2017 02 28.
Article
in English
| MEDLINE | ID: mdl-28204635
15.
Osteogenic capillaries orchestrate growth plate-independent ossification of the malleus.
Development
; 142(22): 3912-20, 2015 Nov 15.
Article
in English
| MEDLINE | ID: mdl-26428006
16.
Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.
J Hum Genet
; 63(11): 1185-1188, 2018 Nov.
Article
in English
| MEDLINE | ID: mdl-30108319
17.
A novel variant of ARPC4-related neurodevelopmental disorder.
Am J Med Genet A
; 191(3): 893-895, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36513617
18.
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
Am J Med Genet A
; 191(8): 2245-2248, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37134193
19.
IRBIT regulates CaMKIIα activity and contributes to catecholamine homeostasis through tyrosine hydroxylase phosphorylation.
Proc Natl Acad Sci U S A
; 112(17): 5515-20, 2015 Apr 28.
Article
in English
| MEDLINE | ID: mdl-25922519
20.
Genomic analysis of Kabuki syndrome with multiple abnormalities in infancy.
Pediatr Int
; 65(1): e15641, 2023.
Article
in English
| MEDLINE | ID: mdl-37804084