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1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Article
in English
| MEDLINE | ID: mdl-38565148
2.
Genome Sequencing for Diagnosing Rare Diseases.
N Engl J Med
; 390(21): 1985-1997, 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38838312
3.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Article
in English
| MEDLINE | ID: mdl-37531237
4.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Article
in English
| MEDLINE | ID: mdl-34186028
5.
Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
N Engl J Med
; 385(22): 2059-2065, 2021 11 25.
Article
in English
| MEDLINE | ID: mdl-34818480
6.
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Am J Med Genet A
; 194(5): e63509, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38158391
7.
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
PLoS Genet
; 17(7): e1009639, 2021 07.
Article
in English
| MEDLINE | ID: mdl-34232960
8.
Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network.
Genet Med
; 24(6): 1297-1305, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35341654
9.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Genet Med
; 23(10): 1901-1911, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34113008
10.
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
Clin Genet
; 99(2): 313-317, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33156547
11.
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
Am J Med Genet A
; 185(1): 203-207, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33037779
12.
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genet Med
; 22(4): 736-744, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31780822
13.
The P72R Polymorphism in R248Q/W p53 Mutants Modifies the Mutant Effect on Epithelial to Mesenchymal Transition Phenotype and Cell Invasion via CXCL1 Expression.
Int J Mol Sci
; 21(21)2020 Oct 28.
Article
in English
| MEDLINE | ID: mdl-33126568
14.
Obesity alters phosphoramide mustard-induced ovarian DNA repair in mice.
Biol Reprod
; 96(2): 491-501, 2017 02 01.
Article
in English
| MEDLINE | ID: mdl-28203708
15.
Progressive obesity alters ovarian insulin, phosphatidylinositol-3 kinase, and chemical metabolism signaling pathways and potentiates ovotoxicity induced by phosphoramide mustard in mice.
Biol Reprod
; 96(2): 478-490, 2017 02 01.
Article
in English
| MEDLINE | ID: mdl-28203716
16.
Involvement of a volatile metabolite during phosphoramide mustard-induced ovotoxicity.
Toxicol Appl Pharmacol
; 277(1): 1-7, 2014 May 15.
Article
in English
| MEDLINE | ID: mdl-24642057
17.
Acute 7,12-dimethylbenz[a]anthracene exposure causes differential concentration-dependent follicle depletion and gene expression in neonatal rat ovaries.
Toxicol Appl Pharmacol
; 276(3): 179-87, 2014 May 01.
Article
in English
| MEDLINE | ID: mdl-24576726
18.
Glutathione S-transferase class µ regulation of apoptosis signal-regulating kinase 1 protein during VCD-induced ovotoxicity in neonatal rat ovaries.
Toxicol Appl Pharmacol
; 267(1): 49-56, 2013 Feb 15.
Article
in English
| MEDLINE | ID: mdl-23274565
19.
Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure.
Cold Spring Harb Mol Case Stud
; 9(3)2023 06.
Article
in English
| MEDLINE | ID: mdl-37230770
20.
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.
Eur J Hum Genet
; 31(6): 712-715, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36690831