Search details
1.
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
N Engl J Med
; 388(24): 2241-2252, 2023 Jun 15.
Article
in English
| MEDLINE | ID: mdl-37256972
2.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
PLoS Genet
; 19(11): e1011005, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37934770
3.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Proc Natl Acad Sci U S A
; 119(6)2022 02 08.
Article
in English
| MEDLINE | ID: mdl-35121658
4.
What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?
Annu Rev Med
; 73: 575-585, 2022 01 27.
Article
in English
| MEDLINE | ID: mdl-35084988
5.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Am J Hum Genet
; 108(9): 1710-1724, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34450031
6.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Am J Med Genet A
; 194(1): 17-30, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37743782
7.
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain
; 146(4): 1373-1387, 2023 04 19.
Article
in English
| MEDLINE | ID: mdl-36200388
8.
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Am J Hum Genet
; 106(5): 717-725, 2020 05 07.
Article
in English
| MEDLINE | ID: mdl-32330417
9.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Article
in English
| MEDLINE | ID: mdl-33232675
10.
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.
Clin Genet
; 103(6): 704-708, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36861389
11.
Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.
Am J Med Genet A
; 191(5): 1378-1383, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36718996
12.
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
Hum Mutat
; 43(12): 1816-1823, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36317458
13.
Harmonizing variant classification for return of results in the All of Us Research Program.
Hum Mutat
; 43(8): 1114-1121, 2022 08.
Article
in English
| MEDLINE | ID: mdl-34923710
14.
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Hum Mutat
; 43(12): 2033-2053, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36054313
15.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Am J Med Genet A
; 188(6): 1868-1874, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35194938
16.
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
Am J Med Genet A
; 188(7): 2198-2203, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35396900
17.
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Hum Mutat
; 42(5): 577-591, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33644933
18.
Neptune: an environment for the delivery of genomic medicine.
Genet Med
; 23(10): 1838-1846, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34257418
19.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Genet Med
; 23(6): 1075-1085, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33580225
20.
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Genet Med
; 23(12): 2404-2414, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34363016