WENDY K contact CHUNG

Summary

Affiliation: Columbia University
Country: USA

Publications

  1. pmc A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
    Flore Zufferey
    Service de Genetique Medicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    J Med Genet 49:660-8. 2012
  2. pmc De novo copy number variants are associated with congenital diaphragmatic hernia
    Lan Yu
    Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA
    J Med Genet 49:650-9. 2012
  3. pmc 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 BRCA1/2
    Anna 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
  4. ncbi request reprint Implementation of genetics to personalize medicine
    Wendy K Chung
    Division of Molecular Genetics, Columbia University, New York, New York 10032, USA
    Gend Med 4:248-65. 2007
  5. pmc Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families
    Wendy Chang
    Division of Molecular Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA
    Prenat Diagn 29:560-9. 2009
  6. pmc Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations
    Wendy K Chung
    Columbia University Medical Center, New York, NY 10032, USA
    Hum Hered 67:193-205. 2009
  7. ncbi request reprint The links between obesity, leptin, and prostate cancer
    Wendy 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
  8. doi request reprint Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death
    Wendy 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
  9. pmc An overview of mongenic and syndromic obesities in humans
    Wendy 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
  10. ncbi request reprint Molecular physiology of syndromic obesities in humans
    Wendy 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

Detail Information

Publications39

  1. pmc A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
    Flore Zufferey
    Service de Genetique Medicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    J Med Genet 49:660-8. 2012
    ..The recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders...
  2. pmc De novo copy number variants are associated with congenital diaphragmatic hernia
    Lan 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...
  3. pmc 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 BRCA1/2
    Anna 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...
  4. ncbi request reprint Implementation of genetics to personalize medicine
    Wendy 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...
  5. pmc Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families
    Wendy 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...
  6. pmc Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations
    Wendy 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...
  7. ncbi request reprint The links between obesity, leptin, and prostate cancer
    Wendy 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
  8. doi request reprint Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death
    Wendy 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...
  9. pmc An overview of mongenic and syndromic obesities in humans
    Wendy 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
    ....
  10. ncbi request reprint Molecular physiology of syndromic obesities in humans
    Wendy 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...
  11. pmc Polymorphism in the angiotensin II type 1 receptor (AGTR1) is associated with age at diagnosis in pulmonary arterial hypertension
    Wendy 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...
  12. ncbi request reprint RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy
    Beth 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...
  13. pmc Sex differences in the effects of inherited bitter thiourea sensitivity on body weight in 4-6-year-old children
    Kathleen 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...
  14. ncbi request reprint Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis
    Brynn 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...
  15. pmc Identifying interdisciplinary research priorities to prevent and treat pediatric obesity in New York City
    Dympna 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
    ....
  16. pmc 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 signaling
    George 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
    ....
  17. pmc Considerations regarding the genetics of obesity
    Wendy 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...
  18. pmc Functional consequences of the human leptin receptor (LEPR) Q223R transversion
    George 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...
  19. ncbi request reprint Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome
    Diane 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...
  20. ncbi request reprint The mahoganoid mutation (Mgrn1md) improves insulin sensitivity in mice with mutations in the melanocortin signaling pathway independently of effects on adiposity
    Loan 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...
  21. ncbi request reprint 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 remission
    Pamela 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...
  22. pmc Regulation of Fto/Ftm gene expression in mice and humans
    George 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
    ..Animals and humans with various genetic interruptions of FTO or FTM have phenotypes reminiscent of aspects of the Bardet-Biedl obesity syndrome, a confirmed "ciliopathy." FTM has recently been shown to be a ciliary basal body protein...
  23. ncbi request reprint A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences
    John 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
    ....
  24. ncbi request reprint Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease
    Elif 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...
  25. pmc Novel loci interacting epistatically with bone morphogenetic protein receptor 2 cause familial pulmonary arterial hypertension
    Laura 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...
  26. ncbi request reprint Alpha-thalassemia major presenting in a term neonate without hydrops
    Sara 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...
  27. doi request reprint Pancreatic cancer screening in a prospective cohort of high-risk patients: a comprehensive strategy of imaging and genetics
    Elizabeth 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...
  28. ncbi request reprint Fatal infantile neuromuscular presentation of glycogen storage disease type IV
    Stacey 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...
  29. pmc Positional cloning of "Lisch-Like", a candidate modifier of susceptibility to type 2 diabetes in mice
    Marija 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...
  30. doi request reprint Recipient genotype is a predictor of allograft cytokine expression and outcomes after pediatric cardiac transplantation
    Scott 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...
  31. pmc 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 cancer
    Vaidehi Jobanputra
    Department of Obstetrics and Gynecology, Columbia University, New York, NY, USA
    Prenat Diagn 25:683-6. 2005
    ..To report the first tertiary monosomy in a pregnancy loss to a female t(11;22) carrier...
  32. ncbi request reprint Foamy podocytes
    Neil Renwick
    Department of Pathology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Am J Kidney Dis 41:891-6. 2003
  33. pmc The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein
    Loan 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...
  34. doi request reprint Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females
    George 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)...
  35. pmc Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2
    Wendy 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...
  36. ncbi request reprint Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing
    Amy 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...
  37. pmc 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 age
    Eric 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...
  38. pmc RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F 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 Grants3

  1. Identification of Novel Genes for Congenital Diaphragmatic Hernia
    Wendy 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. ..
  2. Identification of Novel Genes for Congenital Diaphragmatic Hernia
    WENDY 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. ..