D. Waggoner

发表

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO

D. Waggoner, Maria V. Salguero, K. Chan, 2022, Journal of the Endocrine Society.

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15‐Month Experience

J. Charrow, B. Burton, D. Waggoner, 2017, The Journal of pediatrics.

An Estimate of the Average Number of Recessive Lethal Mutations Carried by Humans

M. Stephens, C. Ober, M. Przeworski, 2014, Genetics.

Microphthalmia with Linear Skin Defects: A Case Report and Review

D. Waggoner, Vishakha M Sharma, A. M. Ruiz de Luzuriaga, 2008, Pediatric dermatology.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Leslie G Biesecker, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence

E. Zackai, D. Waggoner, D. McDonald-McGinn, 2013, American journal of medical genetics. Part A.

A Pilot Newborn Screening Program for Lysosomal Storage Disorders (LSD) in Illinois

J. Charrow, B. Burton, D. Waggoner, 2012 .

The Role of Copper in Neurodegenerative Disease

J. Gitlin, D. Waggoner, Jonathan D. Gitlin, 1999, Neurobiology of Disease.

Prenatal diagnostic conundrum involving a novel ATP7A duplication

D. Waggoner, S. Das, D. Gaudio, 2013, Clinical genetics.

Homozygous Founder Mutation in Desmocollin-2 (DSC2) Causes Arrhythmogenic Cardiomyopathy in the Hutterite Population

C. Ober, H. Duff, J. Chong, 2013, Circulation. Cardiovascular genetics.

Sarcomere Mutations in Cardiomyopathy With Left Ventricular Hypertrabeculation

D. Waggoner, B. Mora, E. McNally, 2009, Circulation. Cardiovascular genetics.

Disclosure of Genetic Research Results to Members of a Founder Population

C. Ober, Soma Das, J. Chong, 2014, Journal of Genetic Counseling.

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

N. Rahman, D. Horn, Soma Das, 2005, American journal of human genetics.

Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance

S. Schwartz, Soma Das, G. Raca, 2008, American journal of medical genetics. Part A.

The natural history of phytosterolemia: Observations on its homeostasis.

G. Hatch, D. Waggoner, G. Salen, 2017, Atherosclerosis.

Brain Copper Content and Cuproenzyme Activity Do Not Vary with Prion Protein Expression Level*

R. Casareno, J. Gitlin, D. Harris, 2000, The Journal of Biological Chemistry.

Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase

Robert A. H. White, R. Casareno, J. Gitlin, 2000, Mammalian Genome.

Parents: critical stakeholders in expanding newborn screening.

L. Ross, D. Waggoner, 2012, The Journal of pediatrics.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

SMC1A expression and mechanism of pathogenicity in probands with X‐Linked Cornelia de Lange syndrome

I. Krantz, Zhe Zhang, Soma Das, 2009, Human mutation.

TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

M. Brueckner, C. Basson, S. Aftimos, 2005, Pediatric Research.

Developmental Regulation of Expression of C-Reactive Protein and Serum Amyloid A in Syrian Hamsters

K. Mandl, D. Waggoner, S. Dowton, 1991, Pediatric Research.

Expanding newborn screening for lysosomal disorders: opportunities and challenges.

D. Waggoner, C. Tan, 2011, Developmental disabilities research reviews.

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2

E. Thorland, D. Waggoner, R. Reid, 2015, Genes & diseases.

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome

S. Schwartz, D. Waggoner, M. Dempsey, 2007, American journal of medical genetics. Part A.

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

W. Chung, D. Segal, J. Graham, 2019, neurogenetics.

An unusual case of an infant with failure to thrive.

D. Waggoner, J. Hageman, S. Kahn, 2012, Pediatric annals.

Vertebral anomalies in a new family with ODED syndrome

D. Waggoner, W. Mcalister, S. Dowton, 2000, Clinical genetics.

Unique Characteristics of the X Chromosome and Related Disorders

D. Waggoner, J. Hageman, S. Sriram, 2017 .

Copper chaperone for superoxide dismutase is essential to activate mammalian Cu/Zn superoxide dismutase.

D L Price, D. Price, P. Wong, 2000, Proceedings of the National Academy of Sciences of the United States of America.

A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features.

D. Waggoner, M. Gundeti, R. Lastra, 2019, Pediatric annals.

The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development) 

E. Littlejohn, D. Waggoner, A. Husain, 2017, Hormone Research in Paediatrics.

Clinic-based study of plexiform neurofibromas in neurofibromatosis 1.

J. Towbin, D. Gutmann, D. Waggoner, 2000, American journal of medical genetics.

“Molecular rulers” for calibrating phenotypic effects of telomere imbalance

D. Ledbetter, S. Uhrig, A. Wong, 2002, Journal of medical genetics.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

J. Rosenfeld, S. Schwartz, L. Shaffer, 2013, European Journal of Human Genetics.

Calibration of 6q subtelomere deletions to define genotype/phenotype correlations

D. Waggoner, J. Chung, D. Eash, 2005, Clinical genetics.

BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE.

D. Waggoner, T. Metelitsina, M. Grassi, 2016, Retinal cases & brief reports.

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Lawrence H. Uricchio, M. DePristo, K. Garimella, 2011, Human molecular genetics.

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Lawrence H. Uricchio, M. DePristo, K. Garimella, 2011, Human molecular genetics.

A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

W. Chung, Yufeng Shen, M. Shinawi, 2016, neurogenetics.

Yield of Additional Genetic Testing after Chromosomal Microarray for Diagnosis of Neurodevelopmental Disability and Congenital Anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

S. Schwartz, David T. Miller, C. Morton, 2018, Genetics in Medicine.

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

Soma Das, D. Waggoner, D. del Gaudio, 2013, Molecular genetics & genomic medicine.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

C. Ober, R. Hegele, O. Suchowersky, 2013, American journal of human genetics.

Recessive TRAPPC 11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

C. Ober, R. Hegele, O. Suchowersky, 2013 .

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Jessica X Chong, Carole Ober, C. Ober, 2012, American journal of human genetics.

Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum

C. Martin, D. Waggoner, 2006, Genetics in Medicine.

Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13

C. Ober, Soma Das, C. Ober, 2008, American journal of medical genetics. Part A.

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

N. Rahman, W. Reardon, A. Collins, 2005, Journal of Medical Genetics.

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

S. Schwartz, David T. Miller, C. Martin, 2018, Genetics in Medicine.

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Soma Das, M. Burmeister, C. Gomez, 2018, Genetics in Medicine.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Partial monosomy of distal 10q: three new cases and a review.

D. Waggoner, M. Watson, S. Dowton, 1999, American journal of medical genetics.

A Review of Fanconi Anemia for the Practicing Pediatrician.

K. Onel, D. Waggoner, Angie Pham, 2015, Pediatric annals.

Haploinsufficiency of TAB2 causes congenital heart defects in humans.

Y. Moreau, P. Van Loo, L. Tranchevent, 2010, American journal of human genetics.

RUNX2 Quadruplication: Additional Evidence Toward a New Form of Syndromic Craniosynostosis

S. Aradhya, T. He, D. Waggoner, 2013, The Journal of craniofacial surgery.

Unique cardiac and cerebral anomalies with chondrodysplasia punctata.

D. Waggoner, S. Dowton, D. Ciske, 1998, American journal of medical genetics.

Mechanisms of disease: epigenesis.

D. Waggoner, 2007, Seminars in pediatric neurology.

The Copper Chaperone CCS Directly Interacts with Copper/Zinc Superoxide Dismutase*

R. Casareno, J. Gitlin, D. Waggoner, 1998, The Journal of Biological Chemistry.

Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel

D. Kondziolka, L. Morrison, B. Hart, 2017, Neurosurgery.

CCM CARE GUIDELINES 1

D. Kondziolka, B. Hart, I. Awad, 2017 .

4q21 microdeletion in a patient with epilepsy and brain malformations

D. Waggoner, S. Halbach, M. McNamara, 2015, American journal of medical genetics. Part A.

NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory

E. Anderes, I. Ostrovnaya, C. Martin, 2005, Genetics in Medicine.

Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.

S. Schwartz, E. Littlejohn, D. Waggoner, 2011, European journal of medical genetics.

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex

R. Wollmann, D. Waggoner, E. McNally, 2007, Neuromuscular Disorders.

Professional medical education and genomics.

L. Demmer, D. Waggoner, 2014, Annual review of genomics and human genetics.

Training the next generation of genomic medicine providers: trends in medical education and national assessment

C. Powell, G. Feldman, D. Waggoner, 2020, Genetics in Medicine.

Deletion of 1q in a patient with acrofacial dysostosis.

D. Waggoner, M. Watson, S. Dowton, 1999, American journal of medical genetics.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Golder N Wilson, E. Roeder, D. Horn, 2020, Brain : a journal of neurology.

A Newborn with Multiple Anomalies

D. Waggoner, J. Hageman, Alison Chu, 2016 .

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

C. Ober, Soma Das, D. Waggoner, 2017, Case reports in genetics.

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity

W. Chung, D. Segal, J. Graham, 2019, neurogenetics.

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Soma Das, M. Burmeister, C. Gomez, 2018, Genetics in Medicine.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Methylmalonic aciduria (cblF): case report and response to therapy.

D. Waggoner, S. Dowton, K. Ueda, 1998, American journal of medical genetics.

Familial pyloric stenosis associated with developmental delays.

D. Waggoner, S. Guandalini, J. Elinoff, 2005, Journal of pediatric gastroenterology and nutrition.

Two Children with Macrocephaly, Developmental Delay, and PTEN Mutation

D. Waggoner, L. Pena, P. Pytel, 2009, La Clinica pediatrica.

Chondrodysplasia punctata associated with malabsorption from bariatric procedures.

R. Pauli, D. Waggoner, N. Mendelsohn, 2010, Surgery for obesity and related diseases : official journal of the American Society for Bariatric Surgery.

Haploinsufficiency of TAB2 causes congenital heart defects in humans.

Y. Moreau, P. Van Loo, L. Tranchevent, 2010, American journal of human genetics.