Search details
1.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Article
in English
| MEDLINE | ID: mdl-37054711
2.
Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.
BMC Genomics
; 25(1): 371, 2024 Apr 16.
Article
in English
| MEDLINE | ID: mdl-38627676
3.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38538918
4.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Article
in English
| MEDLINE | ID: mdl-33909990
5.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Article
in English
| MEDLINE | ID: mdl-33596411
6.
Rbbp4 loss disrupts neural progenitor cell cycle regulation independent of Rb and leads to Tp53 acetylation and apoptosis.
Dev Dyn
; 251(8): 1267-1290, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35266256
7.
SPECC1L regulates palate development downstream of IRF6.
Hum Mol Genet
; 29(5): 845-858, 2020 03 27.
Article
in English
| MEDLINE | ID: mdl-31943082
8.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Am J Med Genet A
; 188(9): 2750-2759, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35543142
9.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33144682
10.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Article
in English
| MEDLINE | ID: mdl-34041744
11.
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Hum Mutat
; 41(5): 973-982, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31944481
12.
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.
BMC Med Genet
; 21(1): 219, 2020 11 10.
Article
in English
| MEDLINE | ID: mdl-33167890
13.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36745126
14.
A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.
Haematologica
; 106(4): 1188-1192, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-32646888
15.
Cre/lox regulated conditional rescue and inactivation with zebrafish UFlip alleles generated by CRISPR-Cas9 targeted integration.
Elife
; 112022 06 17.
Article
in English
| MEDLINE | ID: mdl-35713402
16.
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
Clin Epigenetics
; 13(1): 157, 2021 08 11.
Article
in English
| MEDLINE | ID: mdl-34380541
17.
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Mol Genet Genomic Med
; 8(11): e1477, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32918542
18.
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.
J Bone Miner Res
; 35(4): 662-670, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31826312
19.
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy.
Cold Spring Harb Mol Case Stud
; 5(6)2019 12.
Article
in English
| MEDLINE | ID: mdl-31604776
20.
Three rare disease diagnoses in one patient through exome sequencing.
Cold Spring Harb Mol Case Stud
; 5(6)2019 12.
Article
in English
| MEDLINE | ID: mdl-31427378