Search details
1.
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
Cell
; 155(5): 997-1007, 2013 Nov 21.
Article
in English
| MEDLINE | ID: mdl-24267886
2.
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Am J Hum Genet
; 105(6): 1286-1293, 2019 12 05.
Article
in English
| MEDLINE | ID: mdl-31708116
3.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Genet Med
; 24(2): 307-318, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34906515
4.
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Am J Med Genet A
; 188(5): 1355-1367, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35040250
5.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
J Am Soc Nephrol
; 32(3): 580-596, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33593823
6.
The contribution of de novo coding mutations to autism spectrum disorder.
Nature
; 515(7526): 216-21, 2014 Nov 13.
Article
in English
| MEDLINE | ID: mdl-25363768
7.
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
J Am Soc Nephrol
; 30(2): 201-215, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30655312
8.
Monogenic causes of chronic kidney disease in adults.
Kidney Int
; 95(4): 914-928, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30773290
9.
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
Am J Med Genet A
; 179(10): 2112-2118, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31444901
10.
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
Pediatr Nephrol
; 34(9): 1607-1613, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31001663
11.
De novo mutations in histone-modifying genes in congenital heart disease.
Nature
; 498(7453): 220-3, 2013 Jun 13.
Article
in English
| MEDLINE | ID: mdl-23665959
12.
Clonal evolution analysis of paired anaplastic and well-differentiated thyroid carcinomas reveals shared common ancestor.
Genes Chromosomes Cancer
; 57(12): 645-652, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30136351
13.
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Nature
; 485(7397): 237-41, 2012 Apr 04.
Article
in English
| MEDLINE | ID: mdl-22495306
14.
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Nature
; 482(7383): 98-102, 2012 Jan 22.
Article
in English
| MEDLINE | ID: mdl-22266938
15.
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
Hum Mol Genet
; 23(2): 397-407, 2014 Jan 15.
Article
in English
| MEDLINE | ID: mdl-24006476
16.
A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.
J Hum Genet
; 61(5): 395-403, 2016 May.
Article
in English
| MEDLINE | ID: mdl-26740239
17.
Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer.
Biomedicines
; 10(5)2022 Apr 26.
Article
in English
| MEDLINE | ID: mdl-35625741
18.
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.
Eur Urol Open Sci
; 44: 106-112, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-36185583
19.
Role for MKL1 in megakaryocytic maturation.
Blood
; 113(12): 2826-34, 2009 Mar 19.
Article
in English
| MEDLINE | ID: mdl-19136660
20.
Differential effects of diabetes induced by streptozotocin and that develops spontaneously on prostate growth in Bio Breeding (BB) rats.
Life Sci
; 83(5-6): 192-7, 2008 Aug 01.
Article
in English
| MEDLINE | ID: mdl-18619471