LauraADavis KeppenMD

PubMed

• 299 citations
  High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
  Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman
  American Journal of Human Genetics. 2017-11-02
• 5 citations
  The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
  Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka
  American Journal of Human Genetics. 2023-06-01
• 13 citations
  221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
  Kristi Bentler, Shaohui Zhai, Sara A. Elsbecker, Georgianne L. Arnold, Barbara K. Burton
  Molecular Genetics and Metabolism. 2016-09-01

Journal Articles

• Dallapiccola: Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6  
  Masotti,A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisanschi E, Celluzzi A, Bencivenga P, Fang M, Tian M, Xu X, Cappa M, American Journal of Human Genetics, 1/1/2015
• Congenital Nasal Pyriform Aperture Stenosis and Ocular Albinism Co-occurring in a Sibship with a Maternally-inherited 97 Kb Xp222 microdeletion  
  Sompson D, Davis-Keppen L, Crotwell P, Flanagan J, Munson P, Stein Q, American Journal of Medical Genetics, 1/1/2014
• Identification of a Founder Mutation for Maple Syrup Urine Disease in Hutterites  
  Mroch A, Davis-Keppen L, Matthes C, Stein Q, South Dakota Medicine, 1/1/2014
• Enzyme Replacement Therapy for Mucopolysacchariidosis VI: Long-term Cardiac Effects of Galsulfase (Naglazyme ) Therapy  
  Braunlin E, Rosenfeld H, Kampmann C, Johnson J, Beck M, Giugliani R, Guffon N, Ketteridege D, Sa' Miranda CM, MPS VI Study Group (Davis-Keppen)., J. Inherit Metab Dis, 1/1/2013
• Design, Baseline Characteristics, and Early Findings of the MPS VI (Mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)  
  Hendriksz CJ, Giugliani R, Harmatz P, Lampe C, Martins AM, Pastores GM Steiner RD, Leao TE, Valayannopoulos V, CPS study group (Keppen)., J Inherit Metab Dis, 1/1/2013
• Incidence and Timing of Infusion-related Reactions in Patients with Mucopolysaccharidoses Type II (Hunter Syndrome) On Idursulfase Therapy in the Real-world Setting: A...  
  Burton BK, Whiteman DA; HOS Investigators (Davis-Keppen), Mol Genet Metab, 1/1/2011
• Characterization of New ACADSB Gene Sequence Mutations and Clinical Implications in Patients with 2-Methylbutrylglcinuria Identified by Newborn Screening  
  Alfardan J, Mohsen A, Copeland S, Ellison J, Davis-Keppen L, Rohrbach, M, Powell B, Gillis J, Matern D, Kant J, Vockley J, Mol Genetic Metab, 1/1/2010
• Importance of Surgical History in Diagnosing Mucopolysaccharidosis Type II (Hunter Syndrome): Data from the Hunter Outcome Survey  
  Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giufliani R, Jones SA, Lampe C, Malm G, Steiner RD, Pariani R, Hunter Outcome Survey Investigators (Davis-Keppen)., Genet Med, 1/1/2010
• Home Treatment with Intravenous Enzyme Replacement Therapy with Idursulfase for Mucopoplysaccharidosis Type II-data from the Hunter Outcome Survey  
  Burton BK, Guffon N, Toberts J, van der Ploeg AT, Jones SA, HOS investigators (Davis-keppen)., Mol Genet Metab, 1/1/2010
• Mortality and Cause of Death in Mucopolysaccharidosis Type II-a Historical Review Based on Data from the Hunter Outcome Survey (HOS)  
  Jones SA, Almassy Z, Beck M, burt K, Clarke JT, Guigliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS investigators (D..., J inherit Metab Dis, 1/1/2009
• Long-term Follow-up of Endurance and Safety Outcomes during Enzyme Replacement Therapy for Mucopolysaccharidosis VI: Final Results of Three Clinical Studies of Recombi...  
  Harmatz P, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arah L, Scarpa M, Ketteridge D, Hopewood JJ, Pleck B, Steiner R, Whitley CB, Ka..., Mol Genet Metab, 1/1/2008
• Development of a Newborn Screening Follow-up Algorithm for the Diagnosis of Isobutyryl-COA Dehydrogenase Deficiency  
  Oglesbee D, He M, Majunder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, MD, Mate..., Genet Med, 1/1/2007
• Direct Comparison of Measures of Endurance, Mobility, and Joint Function During Enzyme-Replacement Therapy of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Resu...  
  Paul Harmatz, David Ketteridge, Roberto Giugliani, Natalie Guffon, Elisa Leao Teles, M. Clara Sa Miranda, Zi-Fan Yu, Stuart J. Swiedler, John J. Hopwood and for the MP..., Pediatrics, 1/1/2005
• "Medical Home Children With Special Health Care Needs" Every Child Deserves a Medical Home  
  American Academy of Pediatrics, 1/1/2003
• Hyperphenylalaninemias and ADHD  
  Oesterheld JR, Keppen LD, Developmental and Behavioral Pediatrics, 1/1/1999
• Inborn Defects of Fatty Acid Oxidation; A Preventable Cause of SIDS  
  Keppen LD, Randall B, South Dakota Journal of Medicine, 1/1/1999
• The Hyperphenylalaninemias (Hyperphes), including Phenylketonuria (PKU), Are Genetic Disorders of Phynylalainine (Phe) Hydroxylation  
  Oesterheld JR, Keppen L, J Dev Behav Pediatr, 1/1/1999
• Mutations in the Early Growth Response 2 (EGR2) Transcription Factor Are Associated with Hereditary Myelinopathies  
  Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen LD, Koob KG, Lupski JR, Nature Genetics, 1/1/1998
• Refined Genetic Mapping and Proteolipid Protein Mutation Analysis in X-linked Pure Hereditary Spastic Paraplegia  
  Cambi F, Tang XM, Cordray P, Fain PR, Keppen LD, Barker DF, Neurology, 1/1/1996
• Roberts Syndrome with Normal Cell Division  
  Keppen LD, Gollin SM, Seibert JJ, Sisken JE, Am J Med Genetics, 1/1/1991
• Zinc Nutrition in Fetal Alcohol Syndrome  
  Keppen LD, Moore DJ, Cannon DJ, Neurotoxicology, 1/1/1990
• Anophthalmia in Delleman Syndrome  
  Brodsky MC, Keppen LD, Glasier CM, Harper RA, Am J Med Genetics, 1/1/1990
• Autism in Association with Fragile X Syndrome in Females: Implications for Diagnosis and Treatment in Children  
  Edwards DR, Keppen LD, Ranells JD, Gollin SM, Neurotoxicology, 1/1/1988
• Etiological Heterogeneity in X-linked Spastic Paraplegia  
  Keppen LD, Leppert MF, Lalouel JM, O'Connell P, Nakamura Y, White RL, Stauffer D, Lathrop M, Am J Hum Genet, 1/1/1987
• Nutrition Management of a Critically Ill Infant with Maple Syrup Urine Disease  
  Wiggins PA, Keppen L, Nutrition in Clinical Practice, 1/1/1986
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Abstracts/Posters

• A Case Report of an Individual with Noonan/Cardio-facio-cutaneous/Costello Syndrome Spectrum with KRAS Mutation
  Kaecher K, Myers A, Davis-Keppen L, ACMG, 1/1/2014
• Broad Thumas and Broad Toes: A Long Standing Clinical Diagnosis of Rubinstein Taybi Syndrome Molecularly Confirmed
  Kaecher K, Myers A, Knight Johnson A, Davis-Keppen L, ACMG, 1/1/2014
• SNP Microarray Data Analyzed for Mendelian Inheritance Errors Confirms Patern Genome Origina in a Premature Infant with Genome-Wide Uniparental Disomy and Features Sug...
  Crowell, P, Reed J, Stein Q, Davis-Keppen L, Khan A, ACMG, 1/1/2014
• The Mayo Clinic Experience with Short Stature and Search for Genetic Causes of Idiopathic Cases
  Rochhar A, Rustin J, Goodenberger M, Stein Q, Mroch A, Borovik L, Davis-Keppen L, Thorland E, Velagaleti G, Kirmani S, Lteif A, Crotwell PL, Hodge JC, Am J Hum Genetics, 1/1/2013
• An Array-based Approach to Detect Copy Number Changes in SHOX and Other Stature-associated Genes in Children with Idiopathic Short Stature
  J. Keefe , P. Crotwell, S. Kirmani, G. Velagaleti, A. Lteif. L. Davis-Keppen, A. Karmazin, E. C. Thorland, Am J Hum Genetics, 1/1/2010
• CMT Caused by EGR2 Mutations: A Natural History Study of 10 Patients
  P. Mancias, K Szigeti, W. Wiszniewski, G.M. Saifi, G. Miller, L. Keppen, D. L. Daentl, J.R. Lupski, Am J Hum Genetics, 1/1/2005
• Update On Clinical Trial Results In MPS VI
  P. Harmatz, R. Giugliani, I. Schwartz, A. C. Azevedo, N. Guffon, C. Sa Miranda, E. Teles, E. Wraith, M. Beck, Y. Amraoui, L. Arash, C. Whitley, R. Steiner, B. Plecko, ..., 1/1/2004
• A Phase II Open-Label Clinical Study of Efficacy and Safety of Recombinant Human N-Acetylgalactosamine 4-Sulfatase (rhASB) Enzyme Replacement Therapy in Patients with ...
  P Harmatz, D Ketteridge, R Steiner, J Simon, J Waterson, S Oates, R Giugliani, I Schwartz, N Guffon, C Sa Miranda, L Keppen, E Leao Teles, and J Hopwood, Am J Hum Genetics, 1/1/2003
• Rapid Mutational Screening of the Menkes/Occipital Horn Syndrome Locus
  McAndrew PE, Keppen LD, Kaler SG, Am J Hum Genetics, 1/1/1999
• Clinical "Pure" Hereditary Spastic Paraplegia Is Caused by a Mutation in the Proteolipid Gene
  Keppen LD, Barker DF, Fain PR, Cordray P, Tang XM, Cambi F, 2nd Joint Clinical Genetics Meeting, 1/7./1995
• Treatment of Smith-Lemli-Opitz Syndrome (SLOS): Results of a Multicenter Trial
  Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G, American Journal of Human Genetics, 1/1/1995
• Linkage of Pure X-Linked Spastic Paraplegia to Xq22 In Two Pedigrees
  Cambi F, Tang XM, Cordray P, Fain PR, Keppen L, Barker D, 47th Annual Meeting of the American Academy of Neurology, 1/1/1995
• Marshall-Smith Syndrome with Prolonged Survival and Elevated 17-Hydroxyprogesterone
  Keppen LD, Matusik MC, Johnson VP, Am J Med Genetics, 1/1/1994
• Linkage Studies of a Large Pedigree with X-Linked Spastic Paraplegia
  Keppen LD, Fain PR, Barker DF, Am J Med Genetics, 1/1/1994
• Clinical Phenotype and Molecular Analyses of a 3 Generation Family with an Interstitial Deletion of the Short Arm of Chromosome 5
  Keppen LD, March of Dimes Clinical Genetics Conference, 1/1/1991
• Gastrointestinal Perforations in an Infant with Congenital Contractual Arachnodactyly
  Ranells JD, Keppen LD, March of Dimes Clinical Genetics Conference, 1/1/1990
• A New Skeletal Dysplasia with Severe Short Stature, Limitation of Hand Mobility and Thick Subcutaneous Tissue
  Keppen LD, Char F, Scott CI, Am J Med Genetics, 1/1/1989
• Aortic Root Dimensions in Pediatric Marfan Patients
  Kiel EA, Readinger RI, Keppen LD, Char F, Am J Med Genetics, 1/1/1989
• Prenatal Diagnosis: Evolution of Services in A Small Rural State
  Butler BB, Murphy P, Alderson EA, Hawks FF, Miller CH, Keppen LD, Quirk JG, Am J Hum Genetics, 1/1/1989
• The Role of Zinc Nutrition in Fetal Alcohol Syndrome
  Keppen LD, Moore DJ, Cannon DJ, International NeuroToxicology Conference, Little Rock, AR, 1/1/1989
• A 24-Year-Old with the Rubinstein-Taybi Syndrome
  Char F, Poindexter A, Keppen L, David Smith Meeting, 1/1/1988
• Adverse Reproductive Outcome Monitoring: Protocols for Analyzing Population-Based Data
  Brewster M, Jelovsek F, Mattison D, Quirk J, Keppen L, Ranells J, Taylor B, Proc. Soc. Occupational and Environmental Health, 1/1/1988
• Association of Bilateral Microphthalmia with Hypogonadotropic Hypogonadism
  Keppen LD, Poindexter AR, Michaels JM, Otovo E, Clin Res, 1/1/1988
• Autism and Fragile X Syndrome
  Edwards DR, Keppen LD, Gollin SM, Clin Res, 1/1/1987
• Microphthalmia in an Institution for the Mentally Retarded: Association with Hypogonadotropic Hypogonadism
  Keppen LD, Poindexter AR, Michaels JM, Otovo E, The 1987 Proceedings of the Greenwood Genetics Center, 1/1/1987
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Lectures

• "Mucopolysaccharidosis VI" 
  Chicago - 1/27/2013
• Clinical "Pure" Hereditary Spastic Paraplegia Is Caused by a Mutation in the Proteolipid Gene 
  Los Angeles, California - 1/1/1995
• A New Skeletal Dysplasia with Severe Short Stature, Limitation of Hand Mobility and Severe Short Stature 
  Baltimore, Maryland - 1/11/1988
• Teratogenic Effects of Alcohol are Potentiated by Zinc Deficiency 
  New Orleans, Louisiana - 1/19/1984
• Zinc Deficiency as a Co-Teratogen with Alcohol in Fetal Alcohol Syndrome 
  Oklahoma City, Oklahoma - 1/18/1984
• Zinc Deficiency Increases the Teratogenic Activity of Alcohol 
  Boston, Massachusetts - 1/29/1985
• X-Linked Spastic Paraplegia with Early Onset and Ataxia 
  Boston, Massachusetts - 1/29/1985
• Familial Spastic Paraplegia with X-Linked Inheritance 
  New Orleans, Louisiana - 1/6./1986
• Role of Dietary Zinc Content in Alcohol Embryopathy in Mice 
  New Orleans, Louisiana - 1/6./1986
• Fetal Akinesia Sequence with Kniest Dysplasia 
  Philadelphia, Pennsylvania - 1/9./1986
• X-Linked Myotubular Myopathy with Intrafamilial Variability and Normal Muscle Biopsy in a Definite Female Carrier 
  Philadelphia, Pennsylvania - 1/10/1986
• Microphthalmia in an Institution for the Mentally Retarded: Association with Hypogonadotropic Hypogonadism 
  Burlington, Vermont - 1/13/1986
• Autosomal Dominant Transmission of the DiGeorge Malformation Complex 
  San Diego, California - 1/7./1987
• Association of Bilateral Microphthalmia with Hypogonadotropic Hypogonadism 
  San Diego, California - 1/7./1987
• The Role of Zinc Nutrition in Fetal Alcohol Syndrome 
  Little Rock, Arkansas - 1/20/1989
• Genetics Update 1991 
  University of Oklahoma for Medical Sciences, Oklahoma City, Oklahoma - 1/6./1991
• Clinical Phenotype and Molecular Analyses of a 3 Generation Family with an Interstitial Deletion of the Short Arm Chromosome 5 
  Vancouver, British Columbia - 1/8./1991
• Fetal Alcohol Syndrome and Alcohol Related Developmental Disabilities 
  Minneapolis, Minnesota - 1/18/1993
• Non-traditional Inheritance in Genetics 
  Lead, South Dakota - 1/16/1993
• Linkage Studies of a Large Pedigree with X-Linked Spastic Paraplegia 
  Orlando, Florida - 1/16/1994
• Marshall-Smith Syndrome with Prolonged Survival and Elevated 17-Hydroxyprogesterone 
  Orlando, Florida - 1/17/1994
• A New Syndrome of Spondylospinal Thoracic Dysostosis and Arthrogryposis 
  Kansas City, Missouri - 1/29/1996
• Newborn Screening 
  Sioux Falls, South Dakota - 1/27/1999
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Other

• Diabetes Update 
  Diabetes Beat
  1/1/2003
• Familial Spastic Paraplegia 
  Keppen LD, Birth Defects Encyclopedia, Center for Birth Defects Information Services, Inc.
  1/1/1990
• GLUCOGAMES: A Fun Incentive for Diabetes Management 
  Diabetes Incorporated