Publications by authors named "Katrina M Dipple"

42Publications

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Authors:
Dervla M Connaughton Rufeng Dai Danielle J Owen Jonathan Marquez Nina Mann Adda L Graham-Paquin Makiko Nakayama Etienne Coyaud Estelle M N Laurent Jonathan R St-Germain Lot Snijders Blok Arianna Vino Verena Klämbt Konstantin Deutsch Chen-Han Wilfred Wu Caroline M Kolvenbach Franziska Kause Isabel Ottlewski Ronen Schneider Thomas M Kitzler Amar J Majmundar Florian Buerger Ana C Onuchic-Whitford Mao Youying Amy Kolb Daanya Salmanullah Evan Chen Amelie T van der Ven Jia Rao Hadas Ityel Steve Seltzsam Johanna M Rieke Jing Chen Asaf Vivante Daw-Yang Hwang Stefan Kohl Gabriel C Dworschak Tobias Hermle Mariëlle Alders Tobias Bartolomaeus Stuart B Bauer Michelle A Baum Eva H Brilstra Thomas D Challman Jacob Zyskind Carrie E Costin Katrina M Dipple Floor A Duijkers Marcia Ferguson David R Fitzpatrick Roger Fick Ian A Glass Peter J Hulick Antonie D Kline Ilona Krey Selvin Kumar Weining Lu Elysa J Marco Ingrid M Wentzensen Heather C Mefford Konrad Platzer Inna S Povolotskaya Juliann M Savatt Natalia V Shcherbakova Prabha Senguttuvan Audrey E Squire Deborah R Stein Isabelle Thiffault Victoria Y Voinova Michael J G Somers Michael A Ferguson Avram Z Traum Ghaleb H Daouk Ankana Daga Nancy M Rodig Paulien A Terhal Ellen van Binsbergen Loai A Eid Velibor Tasic Hila Milo Rasouly Tze Y Lim Dina F Ahram Ali G Gharavi Heiko M Reutter Heidi L Rehm Daniel G MacArthur Monkol Lek Kristen M Laricchia Richard P Lifton Hong Xu Shrikant M Mane Simone Sanna-Cherchi Andrew D Sharrocks Brian Raught Simon E Fisher Maxime Bouchard Mustafa K Khokha Shirlee Shril Friedhelm Hildebrandt

Am J Hum Genet 2020 Oct 4;107(4):727-742. Epub 2020 Sep 4.

Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536580PMC
October 2020

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.

J Pediatr 2020 Jun 15. Epub 2020 Jun 15.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA; Brotman Baty Institute for Precision Medicine, Seattle, WA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2020.06.020DOI Listing
June 2020

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

Mol Genet Metab Rep 2020 Jun 6;23:100582. Epub 2020 Apr 6.

Departments of Pediatrics and Mattel Children's Hospital at UCLA, Los Angeles, CA, United States of America.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138921PMC
June 2020

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Am J Med Genet A 2019 09 11;179(9):1783-1790. Epub 2019 Jul 11.

Department of Pediatrics, Division of Genetic Medicine, University of Washington/Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.61281DOI Listing
September 2019

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

Am J Med Genet A 2019 05 3;179(5):842-845. Epub 2019 Mar 3.

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.61096DOI Listing
May 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

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

Mol Genet Metab 2018 08 12;124(4):254-265. Epub 2018 Jun 12.

Department of Human Genetics, David Geffen School of Medicine at UCLA, 695 Charles E. Young Drive South, Los Angeles, CA 90095-7088, USA; Biomedical Engineering, Interdepartmental Program, Henry Samueli School of Engineering and Applied Science at UCLA, 420 Westwood Plaza, Los Angeles, CA 90095, USA; Department of Pediatrics, David Geffen School of Medicine at UCLA, Mattel Children's Hospital at UCLA, 10833 Le Conte Avenue, Los Angeles, CA 90095-1782, USA; University of Washington, Department of Pediatrics, Seattle Children's Hospital, Division of Genetic Medicine, 4800 Sand Point Way NE, Seattle, WA 98105, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.06.001DOI Listing
August 2018

Genetic Screening in Patients with Craniofacial Malformations.

J Pediatr Genet 2016 Dec 14;5(4):220-224. Epub 2016 Sep 14.

Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California; Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California.

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http://www.thieme-connect.de/products/ejournals/pdf/10.1055/
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http://dx.doi.org/10.1055/s-0036-1592423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123894PMC
December 2016

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

Mol Genet Metab 2016 11 11;119(3):288-292. Epub 2016 Oct 11.

Biomedical Engineering Interdepartmental Program, Henry Samueli School of Engineering and Applied Science at UCLA, United States; Department of Human Genetics, David Geffen School of Medicine at UCLA, United States; Department of Pediatrics, David Geffen School of Medicine at UCLA, Mattel Children's Hospital at UCLA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.09.007DOI Listing
November 2016

Modeling craniofacial and skeletal congenital birth defects to advance therapies.

Hum Mol Genet 2016 Oct 26;25(R2):R86-R93. Epub 2016 Jun 26.

Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA Department of Pediatrics and Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA

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http://dx.doi.org/10.1093/hmg/ddw171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036869PMC
October 2016

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

Alcohol Clin Exp Res 2016 08 24;40(8):1744-51. Epub 2016 May 24.

Departments of Human Genetics and Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California.

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http://dx.doi.org/10.1111/acer.13111DOI Listing
August 2016

Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene.

Mol Genet Metab Rep 2015 Sep;4:42-45

Department of Pediatrics, David Geffen School of Medicine at UCLA, and Mattel Children's Hospital UCLA, Los Angeles, CA, USA 90095-1752 ; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA 90095-7088 ; InterDepartmental Program, Biomedical Engineering, Henry Samulei School of Engineering and Applied Sciences at UCLA, Los Angeles, CA, USA 90095.

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http://dx.doi.org/10.1016/j.ymgmr.2015.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545508PMC
September 2015

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

Mol Genet Metab 2015 Jan 8;114(1):66-72. Epub 2014 Nov 8.

Biomedical Engineering Interdepartmental Program, Henry Samueli School of Engineering and Applied Science at UCLA, USA; Department of Human Genetics, David Geffen School of Medicine at UCLA, USA; Department of Pediatrics, David Geffen School of Medicine at UCLA, USA; Mattel Children's Hospital at UCLA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319670PMC
January 2015

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

JAMA 2014 Nov;312(18):1880-7

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Ge.

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http://dx.doi.org/10.1001/jama.2014.14604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278636PMC
November 2014

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

Am J Med Genet A 2014 Dec 24;164A(12):3076-82. Epub 2014 Sep 24.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, Los Angeles, California; UCLA Clinical Genomics Center, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.36767DOI Listing
December 2014

Development of catecholamine and cortisol stress responses in zebrafish.

Mol Genet Metab Rep 2014 7;1:373-377. Epub 2014 Sep 7.

Department of Pediatrics, University of California, Los Angeles, USA; Department of Bioengineering, University of California, Los Angeles, USA; Department of Human Genetics, University of California, Los Angeles, USA; Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269140005
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http://dx.doi.org/10.1016/j.ymgmr.2014.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121345PMC
September 2014

Disruption of glycerol metabolism by RNAi targeting of genes encoding glycerol kinase results in a range of phenotype severity in Drosophila.

PLoS One 2013 6;8(9):e71664. Epub 2013 Sep 6.

Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0071664PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765373PMC
June 2014

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

Am J Med Genet A 2013 Jul 21;161A(7):1773-8. Epub 2013 May 21.

Department of Pathology, Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/ajmg.a.35974DOI Listing
July 2013

Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect.

Am J Med Genet A 2013 May 26;161A(5):1167-72. Epub 2013 Mar 26.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90024, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35847
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http://dx.doi.org/10.1002/ajmg.a.35847DOI Listing
May 2013

Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes.

PLoS One 2012 9;7(3):e31779. Epub 2012 Mar 9.

Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0031779PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3302884PMC
August 2012

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

Am J Med Genet A 2011 Nov 12;155A(11):2871-8. Epub 2011 Oct 12.

Departments of Pediatrics and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.34286DOI Listing
November 2011

Glycerol homeostasis and metabolism in glycerol kinase carrier mice.

Mol Genet Metab 2011 Jul 19;103(3):297-9. Epub 2011 Feb 19.

Department of Pediatrics, 22-412 MDCC, David Geffen School of Medicine at UCLA, 10833 Le Conte Avenue, Los Angeles, CA 90095-1752, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.02.008DOI Listing
July 2011

Ensemble modeling of hepatic fatty acid metabolism with a synthetic glyoxylate shunt.

Biophys J 2010 Apr;98(8):1385-95

Department of Chemical and Biomolecular Engineering, University of California, Los Angeles, California, USA.

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http://dx.doi.org/10.1016/j.bpj.2009.12.4308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2856160PMC
April 2010

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

Metab Eng 2010 Jul 20;12(4):332-40. Epub 2010 Apr 20.

Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-7088, USA.

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http://dx.doi.org/10.1016/j.ymben.2010.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2949272PMC
July 2010

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

Mol Genet Metab 2009 Sep-Oct;98(1-2):203-14. Epub 2009 May 27.

Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095-1752, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.05.004DOI Listing
November 2009

Resistance to diet-induced obesity in mice with synthetic glyoxylate shunt.

Cell Metab 2009 Jun;9(6):525-36

Department of Chemical and Biomolecular Engineering, University of California, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1016/j.cmet.2009.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277884PMC
June 2009

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

Mol Genet Metab 2009 Mar 3;96(3):106-12. Epub 2009 Jan 3.

Biomedical Engineering Interdepartmental Program, Henry Samueli School of Engineering and Applied Science, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.11.163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2702540PMC
March 2009

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

J Biomed Opt 2008 Jan-Feb;13(1):014004

University of California, Los Angeles, Mechanical and Aerospace Engineering Department, Los Angeles, California 90095, USA.

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http://biomedicaloptics.spiedigitallibrary.org/article.aspx?
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http://dx.doi.org/10.1117/1.2830658DOI Listing
June 2008

Global metabolic effects of glycerol kinase overexpression in rat hepatoma cells.

Mol Genet Metab 2008 Feb 29;93(2):145-59. Epub 2007 Oct 29.

Department of Human Genetics, David Geffen School of Medicine at UCLA, University of California, Gonda 5506B, 695 Charles E. Young Dr. South, Los Angeles, CA 90095-7088, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2702542PMC
February 2008

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

Eur J Hum Genet 2007 Jun 4;15(6):646-57. Epub 2007 Apr 4.

Biomedical Engineering, Interdepartmental Program, Henry Samueli School of Engineering and Applied Science at UCLA, Los Angeles, CA 90095, USA.

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http://www.nature.com/articles/5201801
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http://dx.doi.org/10.1038/sj.ejhg.5201801DOI Listing
June 2007

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

Pediatr Res 2006 Apr;59(4 Pt 1):590-2

Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1203/01.pdr.0000203092.83074.ebDOI Listing
April 2006

Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity.

Hum Mol Genet 2006 Feb 20;15(3):405-15. Epub 2005 Dec 20.

Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-7088, USA.

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http://dx.doi.org/10.1093/hmg/ddi457DOI Listing
February 2006

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

Clin Dysmorphol 2005 Oct;14(4):183-7

Department of Pediatrics, The David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1097/00019605-200510000-00003DOI Listing
October 2005

Single-gene disorders: what role could moonlighting enzymes play?

Am J Hum Genet 2005 Jun 22;76(6):911-24. Epub 2005 Apr 22.

Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-7088, USA.

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http://dx.doi.org/10.1086/430799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196451PMC
June 2005

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

Biochem Biophys Res Commun 2005 May;331(1):239-46

Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.bbrc.2005.03.143DOI Listing
May 2005

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

Hum Mutat 2004 Sep;24(3):273

Department of Pediatrics, UCLA School of Medicine, Los Angeles, California 90095-7088, USA.

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http://dx.doi.org/10.1002/humu.9269DOI Listing
September 2004

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

Mol Genet Metab 2003 Dec;80(4):412-8

Department of Pediatrics, David Geffen School of Medicine at UCLA and Mattel Children's Hospital at UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2003.10.003DOI Listing
December 2003