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1.
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Hum Mol Genet
; 32(1): 151-160, 2023 01 01.
Article
in English
| MEDLINE | ID: mdl-35981053
2.
Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity.
Cell
; 142(4): 601-12, 2010 Aug 20.
Article
in English
| MEDLINE | ID: mdl-20723760
3.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
PLoS Genet
; 17(8): e1009698, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34358225
4.
Loss of enteric neuronal Ndrg4 promotes colorectal cancer via increased release of Nid1 and Fbln2.
EMBO Rep
; 22(6): e51913, 2021 06 04.
Article
in English
| MEDLINE | ID: mdl-33890711
5.
Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas.
Clin Gastroenterol Hepatol
; 20(3): e496-e507, 2022 03.
Article
in English
| MEDLINE | ID: mdl-33887476
6.
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.
J Med Genet
; 57(5): 308-315, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31784484
7.
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
Int J Mol Sci
; 22(22)2021 Nov 16.
Article
in English
| MEDLINE | ID: mdl-34830235
8.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Hum Mutat
; 41(11): 1906-1917, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32939943
9.
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Am J Hum Genet
; 101(1): 123-129, 2017 Jul 06.
Article
in English
| MEDLINE | ID: mdl-28602422
10.
Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair Genes.
Clin Gastroenterol Hepatol
; 18(5): 1112-1120.e1, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31470178
11.
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS Genet
; 13(5): e1006765, 2017 May.
Article
in English
| MEDLINE | ID: mdl-28531214
12.
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Proc Natl Acad Sci U S A
; 114(13): E2739-E2747, 2017 03 28.
Article
in English
| MEDLINE | ID: mdl-28292896
13.
Routine Molecular Analysis for Lynch Syndrome Among Adenomas or Colorectal Cancer Within a National Screening Program.
Gastroenterology
; 155(5): 1410-1415, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30063919
14.
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Gastroenterology
; 155(1): 118-129.e6, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29601828
15.
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.
Proc Natl Acad Sci U S A
; 113(15): 4128-33, 2016 Apr 12.
Article
in English
| MEDLINE | ID: mdl-26951660
16.
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Hum Mol Genet
; 25(3): 571-83, 2016 Feb 01.
Article
in English
| MEDLINE | ID: mdl-26647307
17.
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Hum Mol Genet
; 25(23): 5265-5275, 2016 12 01.
Article
in English
| MEDLINE | ID: mdl-27702942
18.
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
Am J Hum Genet
; 96(4): 581-96, 2015 Apr 02.
Article
in English
| MEDLINE | ID: mdl-25839327
19.
A combined literature and in silico analysis enlightens the role of the NDRG family in the gut.
Biochim Biophys Acta Gen Subj
; 1862(10): 2140-2151, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30033230
20.
Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes.
Dev Biol
; 416(1): 255-265, 2016 08 01.
Article
in English
| MEDLINE | ID: mdl-27266404