K. Dipple

发表

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

Edward R B McCabe, Steve Horvath, Loren Ornelas, 2009, Molecular genetics and metabolism.

Validation of Candidate Causal Genes for Abdominal Obesity Which Affect Shared Metabolic Pathways and Networks

Xia Yang, Eric E. Schadt, Joshua L. Deignan, 2009, Nature Genetics.

The novel aldehyde dehydrogenase gene, ALDH5, encodes an active aldehyde dehydrogenase enzyme.

D. Crabb, K. Dipple, Q. Xiao, 1995, Biochemical and biophysical research communications.

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

J. Liao, K. Dipple, M. Rizk, 2010, Biophysical journal.

Modifier genes convert "simple" Mendelian disorders to complex traits.

E. McCabe, K. Dipple, 2000, Molecular genetics and metabolism.

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

Kristen M. Laricchia, Thomas M. Kitzler, D. MacArthur, 2020, American journal of human genetics.

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

K. Dipple, G. Sriram, Clark K Ho, 2016, Molecular genetics and metabolism.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Eric Vilain, Samuel P Strom, Michelle Fox, 2014, JAMA.

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.

E R McCabe, E. McCabe, K. Dipple, 2000, American journal of human genetics.

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

L. Rahib, K. Dipple, R. Nazarian, 2018, Molecular genetics and metabolism.

Human ARX gene: genomic characterization and expression.

D. Geschwind, E. McCabe, K. Dipple, 2002, Molecular genetics and metabolism.

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

Karynne E. Patterson, Danny E. Miller, H. Mefford, 2020, bioRxiv.

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

C. Stanley, S. Cederbaum, A. Ganguly, 2002, Molecular genetics and metabolism.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

University. of ,CalIfornia

R. Elashoff, K. Dipple, E. Landaw, 2010 .

Gene therapy for murine glycerol kinase deficiency: importance of murine ortholog.

E. McCabe, N. Maclennan, K. Dipple, 2005, Biochemical and biophysical research communications.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

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

J. Liao, L. Rahib, K. Dipple, 2010, Metabolic engineering.

Disruption of Glycerol Metabolism by RNAi Targeting of Genes Encoding Glycerol Kinase Results in a Range of Phenotype Severity in Drosophila

K. Dipple, G. Jackson, P. Wightman, 2013, PloS one.

Disorders of Glycerol Metabolism

E. McCabe, K. Dipple, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

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

E. McCabe, K. Dipple, S. Stepanian, 2003, Molecular genetics and metabolism.

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

Edward R B McCabe, James C Liao, Ganesh Sriram, 2005, American journal of human genetics.

Genetic Screening in Patients with Craniofacial Malformations

K. Dipple, A. Yoon, Binh N Pham, 2016, Journal of Pediatric Genetics.

Title In-Vivo Time-Resolved Auto uorescence Measurements on Human Skin Permalink

Laurent Pilon, K. Dipple, H. Berberoğlu, 2006 .

Suicide risk in adolescents with fetal alcohol spectrum disorders

K. Dipple, M. O’Connor, L. Portnoff, 2019, Birth defects research.

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

N. Salamon, F. Quintero-Rivera, K. Dipple, 2011, American journal of medical genetics. Part A.

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

K. Dipple, J. Bennett, G. Deutsch, 2019, American journal of medical genetics. Part A.

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

E. McCabe, K. Dipple, H. Northrup, 2006, Pediatric Research.

Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

F. Quintero-Rivera, K. Dipple, I. Amarillo, 2013, American journal of medical genetics. Part A.

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

Jennifer S. Woo, W. Wallace, F. Quintero-Rivera, 2014, American journal of medical genetics. Part A.

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

Linh Tran, James C Liao, Peter Tontonoz, 2009, Cell metabolism.

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

K. Niakan, E. McCabe, K. Dipple, 2004, Human mutation.

Alcohol sensitivity, alcohol metabolism, risk of alcoholism, and the role of alcohol and aldehyde dehydrogenase genotypes.

D. Crabb, K. Dipple, H. Thomasson, 1993, The Journal of laboratory and clinical medicine.

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

E. McCabe, K. Dipple, R. Ohira, 2005, Biochemical and biophysical research communications.

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

H. Mefford, J. N. Dines, Christina Lam, 2020, The Journal of pediatrics.

Glycerol and Glycerol Phosphates

E. McCabe, K. Dipple, 2008 .

AluY insertion (IVS4‐52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency

K. Worley, P. Deininger, E. McCabe, 2000, Human mutation.

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

E. McCabe, K. Dipple, J. V. Van Hove, 2015, Molecular genetics and metabolism reports.

Consequences of complexity within biological networks: robustness and health, or vulnerability and disease.

E R McCabe, J. Phelan, E. McCabe, 2001, Molecular genetics and metabolism.

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

Omid Kohannim, F. Quintero-Rivera, K. Dipple, 2011, Case reports in genetics.

Ocular Manifestations of Oblique Facial Clefts

J. Demer, Y. Setoguchi, K. Dipple, 2010, The Journal of craniofacial surgery.

Glycerol kinase deficiency: Evidence for complexity in a single gene disorder

J. Dallongeville, E. McCabe, K. Dipple, 2001, Human Genetics.

7.1 Introduction Disorders of Glycerol Metabolism

E. McCabe, K. Dipple, 2022 .

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Sarah E. Gould, David R. Murdock, Jean M. Davidson, 2019, Nature Medicine.

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

D. Crabb, K. Dipple, M. Stewart, 1996, Gene.

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

C. Disteche, W. Neufeld-Kaiser, J. N. Dines, 2019, American journal of medical genetics. Part A.

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

Joshua L. Deignan, W. Grody, S. Cederbaum, 2017, Genetics in Medicine.

Targeted long-read sequencing identifies missing disease-causing variation.

William H. Majoros, Karynne E. Patterson, Timothy E. Reddy, 2021, American journal of human genetics.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

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

F. Quintero-Rivera, J. Bradley, K. Dipple, 2013, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Programmatic Detection of Diploid-Triploid Mixoploidy via Whole Genome Sequencing

J. Holt, E. Worthey, J. Cogan, 2018, bioRxiv.

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

H. Nakshatri, D. Crabb, K. Dipple, 1998, Biochimica et biophysica acta.

Tissue-specific expression and preliminary functional analysis of the 5' flanking regions of the human mitochondrial aldehyde dehydrogenase (ALDH2) gene.

D. Crabb, K. Dipple, M. Stewart, 1995, Advances in experimental medicine and biology.

Endocrine regulation and methylation patterns of rat class I alcohol dehydrogenase in liver and kidney.

D. Crabb, K. Dipple, M. Qulali, 1991, Advances in experimental medicine and biology.

Duplication 8q22.1-q24.1 associated with bipolar disorder and speech delay.

S. Brodie, K. Dipple, M. O’Connor, 2006, Bipolar disorders.

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

K. Dipple, G. Jackson, P. Wightman, 2012, PloS one.

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

J. Liao, L. Rahib, K. Dipple, 2009, Molecular genetics and metabolism.

Structure and expression of the rat class I alcohol dehydrogenase gene.

H. Edenberg, D. Crabb, K. Dipple, 1989, Genomics.

Modeling craniofacial and skeletal congenital birth defects to advance therapies.

O. Klein, K. Dipple, C. Neben, 2016, Human molecular genetics.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Development of catecholamine and cortisol stress responses in zebrafish☆☆☆

Nicole K Henderson-Maclennan, E. McCabe, K. Dipple, 2014, Molecular genetics and metabolism reports.

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

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

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

J. Liao, L. Rahib, K. Dipple, 2008, Molecular genetics and metabolism.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

M. Bamshad, P. Byers, A. Stergachis, 2023, bioRxiv.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

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

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

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

N. Rao, K. Dipple, L. Schimmenti, 2005, Clinical dysmorphology.

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

D. Crabb, K. Dipple, R. A. Ross, 1993, Hepatology.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Modulation of hepatic and renal alcohol dehydrogenase activity and mRNA by steroid hormones in vivo.

D. Crabb, K. Dipple, M. Qulali, 1993, Advances in experimental medicine and biology.

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

Steve Horvath, James C Liao, S. Horvath, 2007, European Journal of Human Genetics.

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

James C Liao, Ganesh Sriram, J. Liao, 2015, Molecular genetics and metabolism.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

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

F. Quintero-Rivera, K. Dipple, N. Dorrani, 2013, American journal of medical genetics. Part A.

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

K. Dipple, M. O’Connor, Marleen Castañeda, 2016, Alcoholism, clinical and experimental research.

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

S. Nelson, W. Grody, K. Dipple, 2020, Molecular genetics and metabolism reports.

Activity of the human aldehyde dehydrogenase 2 promoter is influenced by the balance between activation by hepatocyte nuclear factor 4 and repression by perosixome proliferator activated receptor delta, chicken ovalbumin upstream promoter-transcription factor, and apolipoprotein regulatory protein-1

D. Crabb, K. Dipple, M. Stewart, 1999, Advances in experimental medicine and biology.

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

Laurent Pilon, Aksone Nouvong, Laurent Pilon, 2008, Journal of biomedical optics.

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

Edward R B McCabe, Steve Horvath, James C Liao, 2006, Human molecular genetics.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

M. Bamshad, P. Byers, A. Stergachis, 2023, Annals of clinical and translational neurology.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Management of neonatal upper airway obstruction: Decreased morbidity by utilizing a decision tree model with mandibular distraction osteogenesis

J. Bradley, R. Vyas, K. Dipple, 2008 .

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

Ellen F. Macnamara, J. Rosenfeld, L. Bastarache, 2023, American journal of medical genetics. Part A.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Joshua L. Deignan, S. Nelson, W. Grody, 2014, JAMA.

Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

R. Hamid, K. Dipple, S. Berry, 2020, Pediatrics.

Glycerol homeostasis and metabolism in glycerol kinase carrier mice.

Nicole K Henderson-Maclennan, E. McCabe, K. Dipple, 2011, Molecular genetics and metabolism.