Research Topics
Genomes and Genes | WENDY K contact CHUNGSummaryAffiliation: Columbia University Country: USA Publications
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Publications
De novo copy number variants are associated with congenital diaphragmatic herniaLan Yu
Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA
J Med Genet 49:650-9. 2012..Although the aetiology of CDH remains poorly understood, studies from animal models and patients with CDH suggest that genetic factors play an important role in the development of CDH. Chromosomal anomalies have been reported in CDH...
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2Anna Marie Mulligan
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
Breast Cancer Res 13:R110. 2011..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...- Polymorphism in the angiotensin II type 1 receptor (AGTR1) is associated with age at diagnosis in pulmonary arterial hypertensionWendy K Chung
Department of Pediatrics, Columbia University College of Physicians and Surgeons, New York, New York, USA
J Heart Lung Transplant 28:373-9. 2009..The renin angiotensin aldosterone system (RAAS) provides a set of candidate genes that could modulate pulmonary vascular disease similar to its effects on renal and peripheral vasculature... - Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish familiesWendy Chang
Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA
Prenat Diagn 29:560-9. 2009..We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify the underlying genetic basis for WWS... 
The links between obesity, leptin, and prostate cancerWendy K Chung
Division of Molecular Genetics and the Naomi Berrie Diabetes Center, Columbia University College of Physicians and Surgeons, Russ Berrie Medical Science Pavilion, New York, New York 10032, USA
Cancer J 12:178-81. 2006- Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populationsWendy K Chung
Columbia University Medical Center, New York, NY 10032, USA
Hum Hered 67:193-205. 2009..Human adiposity is highly heritable, but few of the genes that predispose to obesity in most humans are known. We tested candidate genes in pathways related to food intake and energy expenditure for association with measures of adiposity... - Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden deathWendy K Chung
Departments of Pediatrics and Medicine, Columbia University Medical Center, 1150 St Nicholas Avenue, New York 10032, USA
Cardiol Young 21:345-8. 2011..Mutations in the Troponin C gene (TNNC1) are a rare genetic cause of hypertrophic cardiomyopathy. We describe a novel type of mutation (c.363dupG) in Troponin C, a rare form of hypertrophic cardiomyopathy... - Molecular physiology of syndromic obesities in humansWendy K Chung
Division of Molecular Genetics and the Naomi Berrie Diabetes Center, Columbia University Medical College, Russell Berrie Medical Science Pavilion, Room 620, 1150 St Nicholas Avenue, New York, NY 10032, USA
Trends Endocrinol Metab 16:267-72. 2005..Although rare, the study of syndromic forms of obesity provides insight into underlying molecular and physiological mechanisms by which adiposity is regulated through food intake, energy expenditure and partitioning of stored calories... - An overview of mongenic and syndromic obesities in humansWendy K Chung
Division of Molecular Genetics and Naomi Berrie Diabetes Center, Columbia University Medical College, Russell Berrie Medical Science Pavilion, New York, New York 10032, USA
Pediatr Blood Cancer 58:122-8. 2012.... - Implementation of genetics to personalize medicineWendy K Chung
Division of Molecular Genetics, Columbia University, New York, New York 10032, USA
Gend Med 4:248-65. 2007..We are beginning to integrate information on inherited susceptibility, gene expression, and predicted pharmacogenomic response to refine our medical management... - RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathyBeth D Kaufman
Department of Pediatrics, Columbia University, New York, NY, 10032, USA
Hum Genet 122:515-23. 2007..05). Pro-LVH RAAS gene polymorphisms are associated with progressive septal hypertrophy and LVOT obstruction in children with HCM. Identification of RAAS modifier genes may help to risk-stratify patients with HCM... - Considerations regarding the genetics of obesityWendy K Chung
Division of Molecular Genetics, Department of Pediatrics, Naomi Berrie Diabetes Center, Columbia University College of Physicians and Surgeons, New York, New York, USA
Obesity (Silver Spring) 16:S33-9. 2008..New analytic tools will have to be developed to permit the necessary analysis of the gene x gene interactions that must ultimately convey aggregate genetic effects on adiposity... - Sex differences in the effects of inherited bitter thiourea sensitivity on body weight in 4-6-year-old childrenKathleen L Keller
Department of Research Medicine and the New York Obesity Research Center, St Luke s Roosevelt Hospital Center, Columbia University College of Physicians and Surgeons, New York, New York, USA
Obesity (Silver Spring) 18:1194-200. 2010..These results suggest that the TAS2R38 variation, PROP phenotype, and sex interact to impact obesity risk in children. Future studies should be done to determine how this trait influences energy balance... - Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysisBrynn Levy
Department of Pathology and Cell Biology, College of Physicians and Surgeons of Columbia University, New York, NY 10032, USA
Mol Genet Metab 100:129-35. 2010..All patients had severe epilepsy, significant cognitive and motor delay, ataxia, and microcephaly. MRI changes, when present, were of greater severity than are typically associated with missense mutations in SLC2A1... - Identifying interdisciplinary research priorities to prevent and treat pediatric obesity in New York CityDympna Gallagher
Department of Medicine, New York Obesity Nutrition Research Center, St Luke s Roosevelt Hospital, New York, USA
Clin Transl Sci 3:172-7. 2010.... - Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signalingGeorge Stratigopoulos
Division of Molecular Genetics, Department of Pediatrics and Naomi Berrie Diabetes Center, Columbia University, New York, New York 10032, USA
J Biol Chem 286:2155-70. 2011.... - Functional consequences of the human leptin receptor (LEPR) Q223R transversionGeorge Stratigopoulos
Department of Pediatrics, Division of Molecular Genetics, Naomi Berrie Diabetes Center, Columbia University, New York, New York, USA
Obesity (Silver Spring) 17:126-35. 2009..We conclude that Q223R is unlikely to play a significant role in regulation of human adiposity. This approach to vetting of human allelic variation might be more widely used... - Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndromeDiane Rhee
Division of Pediatric Cardiology, Columbia University Medical Center, Morgan Stanley Children s Hospital of New York Presbyterian, New York, New York, USA
Arch Pediatr Adolesc Med 162:882-5. 2008..To investigate the incidence of aortic root dilatation in pectus excavatum... - The mahoganoid mutation (Mgrn1md) improves insulin sensitivity in mice with mutations in the melanocortin signaling pathway independently of effects on adiposityLoan K Phan
Department of Pediatrics, Columbia University, New York, NY, USA
Am J Physiol Endocrinol Metab 291:E611-20. 2006..The effect of Mgrn1(md) on insulin sensitivity of Mc4r-null mice suggests that Mgrn1(md) may be increasing insulin sensitivity via the hypothalamic melanocortin-3 receptor pathway... - Regulation of Fto/Ftm gene expression in mice and humansGeorge Stratigopoulos
Division of Molecular Genetics, Naomi Berrie Diabetes Center, Columbia University, New York, New York 10032, USA
Am J Physiol Regul Integr Comp Physiol 294:R1185-96. 2008..quot; FTM has recently been shown to be a ciliary basal body protein... - Analysis of GNAS mutations in 60 growth hormone secreting pituitary tumors: correlation with clinical and pathological characteristics and surgical outcome based on highly sensitive GH and IGF-I criteria for remissionPamela U Freda
Department of Medicine, Columbia University College of Physicians and Surgeons, 650 West 168th Street, 9 905, New York, NY, USA
Pituitary 10:275-82. 2007..Presence of a GNAS mutation did not predict a difference in a proliferation marker, surgical remission or response to somatostatin analog therapy... - A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequencesJohn R Bankston
Department of Pharmacology, College of Physicians and Surgeons of Columbia University, New York, New York 10032, USA
Channels (Austin) 1:273-80. 2007.... - Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac diseaseElif Seda Selamet Tierney
Division of Pediatric Cardiology, Morgan Stanley Children s Hospital of New York Presbyterian, Columbia University, College of Physicians and Surgeons, New York, NY, USA
Cardiol Young 17:268-74. 2007..This study was designed to assess the frequency and types of genetic variants in CFC1 in children with laterality disorders associated with cardiovascular involvement... - Novel loci interacting epistatically with bone morphogenetic protein receptor 2 cause familial pulmonary arterial hypertensionLaura Rodriguez-Murillo
Division of Statistical Genetics, Department of Biostatistics, Columbia University Medical Center, New York, New York, USA
J Heart Lung Transplant 29:174-80. 2010..Our goal in this study was to identify genetic loci that may influence FPAH expression in BMPR2 mutation carriers... - Recipient genotype is a predictor of allograft cytokine expression and outcomes after pediatric cardiac transplantationScott R Auerbach
Department of Pediatric Cardiology, Columbia University, Morgan Stanley Children s Hospital of New York Presbyterian, New York, New York, USA
J Am Coll Cardiol 53:1909-17. 2009..This study sought to investigate the influence of recipient renin-angiotensin-aldosterone system (RAAS) genotype on cardiac function, rejection, and outcomes after heart transplantation... - Fatal infantile neuromuscular presentation of glycogen storage disease type IVStacey K H Tay
Department of Neurology, College of Physicians and Surgeons, Columbia University, 4 420, 630 West 168th Street, New York, NY 10032, USA
Neuromuscul Disord 14:253-60. 2004..The infantile neuromuscular form of glycogen storage disease type IV is considered extremely rare, but our encountering two patients in close succession suggests that the disease may be underdiagnosed... - Alpha-thalassemia major presenting in a term neonate without hydropsSara E Monaco
Department of Pathology, Columbia University Medical Center, 630 West 168th Street, New York, NY 10032, USA
Pediatr Dev Pathol 8:706-9. 2005..This case illustrates that alpha-thalassemia major should be in the differential diagnosis of hypoxic neonates even in the absence of hydrops... - Pancreatic cancer screening in a prospective cohort of high-risk patients: a comprehensive strategy of imaging and geneticsElizabeth C Verna
Division of Digestive and Liver Diseases, Department of Medicine, Muzzi Mirza Pancreatic Cancer Prevention, Columbia University College of Physicians and Surgeons, New York, New York 10032 3784, USA
Clin Cancer Res 16:5028-37. 2010..Pancreatic cancer is a virtually uniformly fatal disease. We aimed to determine if screening to identify curable neoplasms is effective when offered to patients at high risk... - Positional cloning of "Lisch-Like", a candidate modifier of susceptibility to type 2 diabetes in miceMarija Dokmanovic-Chouinard
Naomi Berrie Diabetes Center, Columbia University, New York, New York, USA
PLoS Genet 4:e1000137. 2008..D congenic lines. The human ortholog, C1orf32, is in the middle of a 30-Mb region of Chr1q23-25 that has been repeatedly associated with type 2 diabetes... - Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2Wendy K Chung
Division of Molecular Genetics and the Naomi Berrie Diabetes Center, Columbia University Medical College, Russell Berrie Medical Science Pavilion, Room 620, 1150 St Nicholas Avenue, New York, NY 10032, USA
Neurobiol Dis 33:499-508. 2009..These findings help elucidate basic mechanisms of absence epilepsy and suggest HCN2 may be a target for therapeutic intervention... - Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal femalesGeorge Stratigopoulos
Department of Pediatrics, Columbia University, New York, NY 10032, USA
Arch Neurol 67:1252-6. 2010..To investigate the potential association of plastin 3 (PLS3) expression levels in the blood with disease severity in spinal muscular atrophy (SMA)... - Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testingAmy Jean
Division of Pediatric Endocrinology, Columbia University, New York, NY, USA
Prenat Diagn 28:11-4. 2008..We used two independent methods of prenatal diagnosis for CLAH... - A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancerVaidehi Jobanputra
Department of Obstetrics and Gynecology, Columbia University, New York, NY, USA
Prenat Diagn 25:683-6. 2005..It is also another example of apparent association of the constitutional translocation t(11;22) and breast cancer... - Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of ageEric S Silver
Department of Pediatrics, NY Presbyterian Hospital Columbia University, New York, NY, USA
J Interv Card Electrophysiol 26:41-5. 2009..Episodes of TdP continued and left stellate gangliectomy was performed at 3 months of age. At 30 months follow-up, the patient has occasional, self-limited episodes of TdP and has received rare, successful, and appropriate ICD shocks... - Foamy podocytesNeil Renwick
Department of Pathology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
Am J Kidney Dis 41:891-6. 2003 - The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain proteinLoan K Phan
Division of Molecular Genetics, Department of Pediatrics, Institute of Human Nutrition, Columbia University, New York, New York, USA
J Clin Invest 110:1449-59. 2002..Mahoganoid effects on energy homeostasis are, therefore, most evident in the circumstances of epistasis to hypothalamic overexpression of ASP in A(y) and possible other obesity-causing mutations... - RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati
Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
Clin Genet 74:164-70. 2008..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...
Research Grants
- Identification of Novel Genes for Congenital Diaphragmatic HerniaWendy Chung; Fiscal Year: 2009..We believe this information will improve genetic diagnostic methods and provide more accurate clinical prognostic information for patients and families with CDH. ..
- Identification of Novel Genes for Congenital Diaphragmatic HerniaWENDY K contact CHUNG; Fiscal Year: 2010..We believe this information will improve genetic diagnostic methods and provide more accurate clinical prognostic information for patients and families with CDH. ..