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1

Modifier Genes Convert “Simple” Mendelian Disorders to Complex Traits

Katrina M. Dipple, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 57 KB

english, 2000

2

Consequences of Complexity within Biological Networks: Robustness and Health, or Vulnerability and Disease

Katrina M. Dipple, James K. Phelan, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 177 KB

english, 2001

3

Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics

Katrina M. Dipple, Edward R.B. McCabe

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 101 KB

english, 2000

4

The Kawamoto Classification Scheme for Parry Romberg Syndrome

Li, Andrew, Buck, Anisa, Lee, James, Meals, Clifton, Dipple, Katrina, Sedano, Heddie, Kawamoto, Henry, Jarrahy, Reza

Journal:

Plastic & Reconstructive Surgery

Year:

2013

Language:

english

File:

PDF, 133 KB

english, 2013

5

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

Natalie M. Gallant, Erin Baldwin, Noriko Salamon, Katrina M. Dipple, Fabiola Quintero-Rivera

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 354 KB

english, 2011

6

Effects of thyroxine on the expression of alcohol dehydrogenase in rat liver and kidney

Katrina M. Dipple, Mona Qulali, Ruth Ann Ross, David W. Crabb

Journal:

Year:

1993

Language:

english

File:

PDF, 733 KB

english, 1993

7

IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1

Yao-Hua Zhang, Bing-Ling Huang, Kathy K. Niakan, Linda L. McCabe, Edward R.B. McCabe, Katrina M. Dipple

Journal:

Year:

2004

Language:

english

File:

PDF, 230 KB

english, 2004

8

Moonlighting function of glycerol kinase causes systems-level changes in rat hepatoma cells

Ganesh Sriram, Lilly S. Parr, Lola Rahib, James C. Liao, Katrina M. Dipple

Journal:

Metabolic Engineering

Year:

2010

Language:

english

File:

PDF, 980 KB

english, 2010

9

Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling

Rahib, Lola, MacLennan, Nicole K, Horvath, Steve, Liao, James C, Dipple, Katrina M

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 428 KB

english, 2007

10

Binding and activation of the human aldehyde dehydrogenase 2 promoter by hepatocyte nuclear factor 4

Mark J. Stewart, Katrina M. Dipple, Mats Estonius, Harikrishna Nakshatri, Lynn M. Everett, David W. Crabb

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1998

Language:

english

File:

PDF, 401 KB

english, 1998

11

The role of nuclear factor NF-Y/CP1 in the transcriptional regulation of the human aldehyde dehydrogenase 2-encoding gene

Mark J. Stewart, Katrina M. Dipple, Trent R. Stewart, David W. Crabb

Journal:

Year:

1996

Language:

english

File:

PDF, 1022 KB

english, 1996

12

Human and murine glycerol kinase: Influence of exon 18 alternative splicing on function

Riki H. Ohira, Katrina M. Dipple, Yao-Hua Zhang, Edward R.B. McCabe

Journal:

Biochemical and Biophysical Research Communications

Year:

2005

Language:

english

File:

PDF, 1.14 MB

english, 2005

13

Resistance to Diet-Induced Obesity in Mice with Synthetic Glyoxylate Shunt

Jason T. Dean, Linh Tran, Simon Beaven, Peter Tontonoz, Karen Reue, Katrina M. Dipple, James C. Liao

Journal:

Cell Metabolism

Year:

2009

Language:

english

File:

PDF, 742 KB

english, 2009

14

Characterization of the human glycerol kinase promoter: identification of a functional HNF-4α binding site and evidence for transcriptional activation

Sevan V Stepanian, Steven T Huyn, Edward R.B McCabe, Katrina M Dipple

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 239 KB

english, 2003

15

Global metabolic effects of glycerol kinase overexpression in rat hepatoma cells

Ganesh Sriram, Lola Rahib, Jian-Sen He, Allison E. Campos, Lilly S. Parr, James C. Liao, Katrina M. Dipple

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.96 MB

english, 2008

16

Transcriptomic and network component analysis of glycerol kinase in skeletal muscle using a mouse model of glycerol kinase deficiency

Lola Rahib, Ganesh Sriram, Melissa K. Harada, James C. Liao, Katrina M. Dipple

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 384 KB

english, 2009

17

Weighted gene co-expression network analysis identifies biomarkers in glycerol kinase deficient mice

Nicole K. MacLennan, Jun Dong, Jason E. Aten, Steve Horvath, Lola Rahib, Loren Ornelas, Katrina M. Dipple, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 562 KB

english, 2009

18

Glycerol homeostasis and metabolism in glycerol kinase carrier mice

Motomichi Kosuga, Nicole K. Henderson-MacLennan, Yao-Hua Zhang, Bing-Ling Huang, Katrina M. Dipple, Edward R.B. McCabe

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

19

Addendum to “Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency” [Mol. Genet. Metab. 77 (2002) 195–201]

Stephen D. Cederbaum, Samantha Koo-McCoy, Ingrid Tein, Betty Y.L. Hsu, Arupa Ganguly, Eric Vilain, Katrina Dipple, Ljerka Cvitanovic-Sojat, Charles Stanley

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 53 KB

english, 2003

20

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

Stephen D Cederbaum, Samantha Koo-McCoy, Ingrid Tein, Betty Y.L Hsu, Arupa Ganguly, Eric Vilain, Katrina Dipple, Ljerka Cvitanovic-Sojat, Charles Stanley

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 113 KB

english, 2002

21

Single-Gene Disorders: What Role Could Moonlighting Enzymes Play?

Ganesh Sriram, Julian A. Martinez, Edward R.B. McCabe, James C. Liao, Katrina M. Dipple

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 2.18 MB

english, 2005

22

Ensemble Modeling of Hepatic Fatty Acid Metabolism with a Synthetic Glyoxylate Shunt

Dean, Jason T., Rizk, Matthew L., Tan, Yikun, Dipple, Katrina M., Liao, James C.

Journal:

Biophysical Journal

Year:

2010

Language:

english

File:

PDF, 620 KB

english, 2010

23

Structure and expression of the rat class I alcohol dehydrogenase gene

Crabb, David W., Stein, Peter M., Dipple, Katrina M., Hittle, John B., Sidhu, Rashmi, Qulali, Mona, Zhang, Ke, Edenberg, Howard J.

Journal:

Year:

1989

Language:

english

File:

PDF, 1.31 MB

english, 1989

24

First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities

Bui, Peter H., Dorrani, Naghmeh, Wong, Derek, Perens, Gregory, Dipple, Katrina M., Quintero-Rivera, Fabiola

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 602 KB

english, 2013

25

Familial Microdeletion of 17q24.3 Upstream of SOX 9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

Amarillo, Ina E., Dipple, Katrina M., Quintero-Rivera, Fabiola

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.06 MB

english, 2013

26

Mathematical modeling of the insulin signal transduction pathway for prediction of insulin sensitivity from expression data

Ho, Clark K., Rahib, Lola, Liao, James C., Sriram, Ganesh, Dipple, Katrina M.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 493 KB

english, 2015

27

In vivo time-resolved autofluorescence measurements to test for glycation of human skin

Blackwell, Jennifer, Katika, Kamal M., Pilon, Laurent, Dipple, Katrina M., Levin, Seymour R., Nouvong, Aksone

Journal:

Journal of Biomedical Optics

Year:

2008

Language:

english

File:

PDF, 1.50 MB

english, 2008

28

Development of catecholamine and cortisol stress responses in zebrafish

Eto, Kaoru, Mazilu-Brown, Jaime K., Henderson-MacLennan, Nicole, Dipple, Katrina M., McCabe, Edward R.B.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 280 KB

english, 2014

29

Gestational diabetes associated with a novel mutation (378–379insTT) in the glycerol kinase gene

Zhang, Yao H., Van Hove, Johan L., McCabe, Edward R.B., Dipple, Katrina M.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 341 KB

english, 2015

30

Asymptomatic Isolated Human Glycerol Kinase Deficiency Associated with Splice-Site Mutations and Nonsense-Mediated Decay of Mutant RNA

Zhang, Yao-Hua, Huang, Bing-Ling, Jialal, Ishwarlal, Northrup, Hope, McCabe, Edward R B, Dipple, Katrina M

Journal:

Pediatric Research

Year:

2006

Language:

english

File:

PDF, 308 KB

english, 2006

31

Becoming a Woman Physician Scientist

Sakamoto, Kathleen M., Dipple, Katrina M.

Journal:

Academic Medicine

Year:

2009

Language:

english

File:

PDF, 25 KB

english, 2009

32

Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21

Crombez, Eric A., Dipple, Katrina M., Schimmenti, Lisa A., Rao, Nagesh

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 145 KB

english, 2005

33

Modeling craniofacial and skeletal congenital birth defects to advance therapies

Neben, Cynthia L., Roberts, Ryan R., Dipple, Katrina M., Merrill, Amy E., Klein, Ophir D.

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 388 KB

english, 2016

34

Duodenal atresia in 17q12 microdeletion including HNF1B : A new associated malformation in this syndrome

Quintero-Rivera, Fabiola, Woo, Jennifer S., Bomberg, Eric M., Wallace, W. Dean, Peredo, Jane, Dipple, Katrina M.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 785 KB

english, 2014

35

Cleft Lip and Palate in a Patient with 5q35.2-q35.3 Microdeletion: The Importance of Chromosomal Microarray Testing in the Craniofacial Clinic

Peredo, Jane, Quintero-Rivera, Fabiola, Bradley, James P., Tu, Marinda, Dipple, Katrina M.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2013

Language:

english

File:

PDF, 387 KB

english, 2013

36

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury,

Journal:

Year:

2016

Language:

english

File:

PDF, 919 KB

english, 2016

37

Alcohol Intervention for Adolescents with Fetal Alcohol Spectrum Disorders: Project Step Up, a Treatment Development Study

O'Connor, Mary J., Quattlebaum, Justin, Castañeda, Marleen, Dipple, Katrina M.

Journal:

Alcoholism: Clinical and Experimental Research

Year:

2016

Language:

english

File:

PDF, 222 KB

english, 2016

38

Ocular Manifestations of Oblique Facial Clefts

Ortube, Maria Carolina, Dipple, Katrina, Setoguchi, Yoshio, Kawamoto, Henry K., Demer, Joseph L.

Journal:

Journal of Craniofacial Surgery

Year:

2010

Language:

english

File:

PDF, 5.41 MB

english, 2010

39

SPIE Proceedings [SPIE Biomedical Optics 2006 - San Jose, CA (Saturday 21 January 2006)] Photonic Therapeutics and Diagnostics II - In vivo time-resolved autofluorescence measurements on human skin

Kollias, Nikiforos, Katika, Kamal M., Pilon, Laurent, Zeng, Haishan, Choi, Bernard, Dipple, Katrina, Levin, Seymour, Malek, Reza S., Wong, Brian J., Blackwell, Jennifer, Berberoglu, Halil, Ilgner, Jus

Year:

2006

Language:

english

File:

PDF, 269 KB

english, 2006

40

Insulin sensitivity predictions in individuals with obesity and type II diabetes mellitus using mathematical model of the insulin signal transduction pathway

Ho, Clark K, Sriram, Ganesh, Dipple, Katrina M

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 575 KB

english, 2016

41

Genetic Screening in Patients with Craniofacial Malformations

Yoon, Amanda, Pham, Binh, Dipple, Katrina

Journal:

Journal of Pediatric Genetics

Year:

2016

Language:

english

File:

PDF, 89 KB

english, 2016

42

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Mullegama, Sureni V, Klein, Steven D, Nguyen, Dzung C, Kim, Arang, Signer, Rebecca, Fox, Michelle, Dorrani, Naghmeh, Hendershot, Andrea, Mardach, Rebecca, Suddath, Robert, Dipple, Katrina, Vilain, Eri

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 81 KB

english, 2017

43

Glycerol Kinase (GK) Point Mutations in Patients with Isolated GK Deficiency: Possible Genotype-Phenotype Relationships

Dipple, Katrina M, Zhang, Yao-Hua, Huang, Bing-Ling, McCabe, Edward R

Journal:

Pediatric Research

Year:

1999

File:

PDF, 70 KB

1999

44

Glycerol Hypersensitivity in a Drosophila Model for Glycerol Kinase Deficiency Is Affected by Mutations in Eye Pigmentation Genes

Wightman, Patrick J., Jackson, George R., Dipple, Katrina M., Iijima, Koichi M.

Journal:

Year:

2012

Language:

english

File:

PDF, 565 KB

english, 2012

45

The ATP-stimulated translocation promoter (ASTP) activity of glycerol kinase plays central role in adipogenesis

Parr, Lilly S., Sriram, Ganesh, Nazarian, Ramin, Rahib, Lola, Dipple, Katrina M.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 1.60 MB

english, 2018

46

Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis

Kohannim, Omid, Peredo, Jane, Dipple, Katrina M., Quintero-Rivera, Fabiola

Journal:

Case Reports in Genetics

Year:

2011

Language:

english

File:

PDF, 1.87 MB

english, 2011

47

Suicide risk in adolescents with fetal alcohol spectrum disorders

O'Connor, Mary J., Portnoff, Larissa C., Lebsack-Coleman, Michael, Dipple, Katrina M.

Journal:

Birth Defects Research

Year:

2019

File:

PDF, 852 KB

2019

48

Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the TBX-FGF Pathway

Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina,

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 3.52 MB

english, 2019

49

Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing

German, Kendell, Deutsch, Gail H., Freed, Amanda S., Dipple, Katrina M., Chabra, Shilpi, Bennett, James T.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 753 KB

english, 2019

50

Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome

Yazdani, Shahram, Badjatiya, Anish, Dorrani, Naghmeh, Lee, Hane, Grody, Wayne W., Nelson, Stanley F., Dipple, Katrina M.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 403 KB

2020