selected publications
- Increased frequency of clonal hematopoiesis of indeterminate potential in Bloom syndrome probands and carriers. Haematologica. 2024 Academic Article GET IT
- Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers. 2024 GET IT
- Bloom syndrome patients and mice display accelerated epigenetic aging. Aging cell. 2023 Academic Article GET IT
- A 12-Day-Old Female with Hypothermia, Hypoglycemia and Hyperbilirubinemia. Pediatrics. 2022 Academic Article GET IT
- Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022 Academic Article GET IT
- Age of first cancer diagnosis and survival in Bloom syndrome. Genetics in medicine : official journal of the American College of Medical Genetics. 2022 Academic Article GET IT
- Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights. Birth defects research. 2022 Academic Article GET IT
- Exome sequencing identifies variants in infants with sacral agenesis. Birth defects research. 2022 Academic Article GET IT
- Familial colloid cysts: not a chance occurrence. Journal of neuro-oncology. 2022 Academic Article GET IT
- Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000-2011. American journal of medical genetics. Part A. 2021 Academic Article GET IT
-     
    
    
                     Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. 
 
                    American journal of medical genetics. Part A. 
            
             2021
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 2
-     
    
    
                     Rapid genotype imputation from sequence with reference panels. 
 
                    Nature genetics. 
            
             2021
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 60
-     
    
    
                     Left ventricular dysfunction in Duchenne muscular dystrophy. 
 
                    Cardiology in the young. 
            
             2020
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 18
-     
    
    
                     De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. 
 
                    American journal of human genetics. 
            
             2019
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 39
-     
    
    
                     Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997-2011. 
 
                    American journal of medical genetics. Part A. 
            
             2019
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 8
- Palliative care services in families of males with muscular dystrophy: Data from MD STARnet. SAGE open medicine. 2019 Academic Article GET IT
-     
    
    
                     A Review of MD STAR net's Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017. 
 
                    Journal of child neurology.
            
             2018
             
			
			
			
			
			
			Review
 			GET IT
 			
 Times cited: 7
-     
    
    
                     Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study. 
 
                    Birth defects research. 
            
             2018
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 4
-     
    
    
                     Maternal antihypertensive medication use and selected birth defects in the National Birth Defects Prevention Study. 
 
                    Birth defects research. 
            
             2018
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 9
-     
    
    
                     Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011. 
 
                    Birth defects research. 
            
             2018
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 12
-     
    
    
                     Health supervision for people with Bloom syndrome. 
 
                    American journal of medical genetics. Part A. 
            
             2018
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 22
-     
    
    
                     Implementation of Duchenne Muscular Dystrophy Care Considerations. 
 
                    Pediatrics. 
            
             2018
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 8
-     
    
    
                     Recognition of clinical characteristics for population-based surveillance of fetal alcohol syndrome. 
 
                    Birth defects research. 
            
             2018
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 4
-     
    
    
                     Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. 
 
                    Clinical genetics. 
            
             2018
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 12
-     
    
    
                     Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1. 
 
                    Journal of neuromuscular diseases. 
            
             2018
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 15
-     
    
    
                     DSM Criteria that Best Differentiate Intellectual Disability from Autism Spectrum Disorder. 
 
                    Child psychiatry and human development. 
            
             2017
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 23
- Noninvasive Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy Since 1979-Reply. Respiratory care. 2017 Letter GET IT
-     
    
    
                     Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype. 
 
                    Annals of the New York Academy of Sciences. 
            
             2017
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 10
-     
    
    
                     Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy. 
 
                    Journal of child neurology. 
            
             2017
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 56
-     
    
    
                     Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. 
 
                    Molecular syndromology.
            
             2016
             
			
			
			
			
			
			Information Resource
 			GET IT
 			
 Times cited: 200
-     
    
    
                     Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network. 
 
                    Journal of autism and developmental disorders. 
            
             2016
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 20
-     
    
    
                     Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy From 2000 to 2011. 
 
                    Respiratory care. 
            
             2016
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 18
-     
    
    
                     Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet. 
 
                    Journal of pediatric rehabilitation medicine. 
            
             2016
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 31
-     
    
    
                     Fluconazole use and birth defects in the National Birth Defects Prevention Study. 
 
                    American journal of obstetrics and gynecology. 
            
             2015
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 23
-     
    
    
                     Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy. 
 
                    Journal of pediatric orthopedics. 
            
             2015
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 17
-     
    
    
                     Methods for surveillance of fetal alcohol syndrome: The Fetal Alcohol Syndrome Surveillance Network II (FASSNetII) - Arizona, Colorado, New York, 2009 - 2014. 
 
                    Birth defects research. Part A, Clinical and molecular teratology. 
            
             2015
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 11
-     
    
    
                     Prevalence of Duchenne and Becker muscular dystrophies in the United States. 
 
                    Pediatrics. 
            
             2015
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 190
-     
    
    
                     Fetal alcohol syndrome among children aged 7-9 years - Arizona, Colorado, and New York, 2010. 
 
                    MMWR. Morbidity and mortality weekly report. 
            
             2015
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 44
-     
    
    
                     Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy. 
 
                    American journal of medical genetics. Part A. 
            
             2014
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 15
-     
    
    
                     Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies. 
 
                    Muscle & nerve. 
            
             2014
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 11
-     
    
    
                     Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome. 
 
                    American journal of medical genetics. Part A. 
            
             2014
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 5
-     
    
    
                     Potential impact of DSM-5 criteria on autism spectrum disorder prevalence estimates. 
 
                    JAMA psychiatry. 
            
             2014
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 168
-     
    
    
                     Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy. 
 
                    The Journal of pediatrics. 
            
             2013
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 91
-     
    
    
                     Frequency and pattern of documented diagnostic features and the age of autism identification. 
 
                    Journal of the American Academy of Child and Adolescent Psychiatry. 
            
             2013
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 61
-     
    
    
                     Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy. 
 
                    American journal of medical genetics. Part A. 
            
             2013
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 7
-     
    
    
                     Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy. 
 
                    American journal of medical genetics. Part A. 
            
             2012
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 4
-     
    
    
                     Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. 
 
                    American journal of medical genetics. Part A. 
            
             2012
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 43
-     
    
    
                     A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 
 
                    American journal of human genetics. 
            
             2012
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 77
-     
    
    
                     Maternal smoking during pregnancy and the prevalence of autism spectrum disorders, using data from the autism and developmental disabilities monitoring network. 
 
                    Environmental health perspectives. 
            
             2012
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 58
-     
    
    
                     Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children. 
 
                    Pediatrics. 
            
             2012
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 60
-     
    
    
                     Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy. 
 
                    Journal of child neurology. 
            
             2011
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 21
-     
    
    
                     Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy. 
 
                    Genetics in medicine : official journal of the American College of Medical Genetics. 
            
             2011
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 19
-     
    
    
                     Palliative care services in families of males with Duchenne muscular dystrophy. 
 
                    Muscle & nerve. 
            
             2011
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 27
-     
    
    
                     Prenatal genetic screening and diagnosis for pediatricians. 
 
                    Current opinion in pediatrics.
            
             2010
             
			
			
			
			
			
			Review
 			GET IT
 			
 Times cited: 2
-     
    
    
                     Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy. 
 
                    Journal of child neurology. 
            
             2010
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 62
-     
    
    
                     Autism spectrum disorder and co-occurring developmental, psychiatric, and medical conditions among children in multiple populations of the United States. 
 
                    Journal of developmental and behavioral pediatrics : JDBP. 
            
             2010
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 292
-     
    
    
                     Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy. 
 
                    Journal of child neurology. 
            
             2010
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 45
-     
    
    
                     Risk for cognitive deficit in a population-based sample of U.S. children with autism spectrum disorders: variation by perinatal health factors. 
 
                    Disability and health journal. 
            
             2010
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 21
-     
    
    
                     Changes in autism spectrum disorder prevalence in 4 areas of the United States. 
 
                    Disability and health journal. 
            
             2010
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 57
-     
    
    
                     Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). 
 
                    The Journal of pediatrics. 
            
             2009
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 200
-     
    
    
                     Re: "Advanced parental age and the risk of autism spectrum disorder". 
 
                    American journal of epidemiology.
            
             2009
             
			
			
			
			
			
			 Letter
 			GET IT
 			
 Times cited: 5
-     
    
    
                     Elements of morphology: standard terminology for the head and face. 
 
                    American journal of medical genetics. Part A. 
            
             2009
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 146
-     
    
    
                     Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. 
 
                    Journal of child neurology. 
            
             2008
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 23
-     
    
    
                     Advanced parental age and the risk of autism spectrum disorder. 
 
                    American journal of epidemiology. 
            
             2008
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 321
-     
    
    
                     The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology. 
 
                    Birth defects research. Part A, Clinical and molecular teratology. 
            
             2006
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 90
- There might be gold at the end of the rainbow. Pediatrics. 2005 Letter GET IT
-     
    
    
                     Public health monitoring of developmental disabilities with a focus on the autism spectrum disorders. 
 
                    American journal of medical genetics. Part C, Seminars in medical genetics.
            
             2004
             
			
			
			
			
			
			Review
 			GET IT
 			
 Times cited: 25
-     
    
    
                     Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 
 
                    Journal of the National Cancer Institute. 
            
             2003
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 240
-     
    
    
                     Turner syndrome. 
 
                    Adolescent medicine (Philadelphia, Pa.).
            
             2002
             
			
			
			
			
			
			Review
 			GET IT
 			
 Times cited: 9
-     
    
    
                     A multiple source methodology for the surveillance of fetal alcohol syndrome--The Fetal Alcohol Syndrome Surveillance Network (FASSNet). 
 
                    Teratology. 
            
             2002
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 23
-     
    
    
                     Genetic evaluation and counseling for congenital deafness. 
 
                    Advances in oto-rhino-laryngology. 
            
             2002
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 2
-     
    
    
                     Molecular genetic testing in pediatric practice: A subject review. Committee on Genetics. 
 
                    Pediatrics.
            
             2000
             
			
			
			
			
			
			Review
 			GET IT
 			
 Times cited: 42
-     
    
    
                     Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities. 
 
                    American journal of medical genetics. 
            
             1998
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 24
- Improving access to and utilization of genetic services in Arizona's Hispanic population. Community genetics. 1998 Academic Article GET IT
-     
    
    
                     Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. 
 
                    American journal of medical genetics.
            
             1997
             
			
			
			
			
			
			Conference Paper
 			GET IT
 			
 Times cited: 361
-     
    
    
                     Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. 
 
                    American journal of medical genetics.
            
             1997
             
			
			
			
			
			
			 Letter
 			GET IT
 			
 Times cited: 6
-     
    
    
                     Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. 
 
                    American journal of medical genetics. 
            
             1997
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 188
-     
    
    
                     Mechanisms of amiodarone-induced inhibition of Ca2+ current in isolated neonatal rabbit ventricular myocytes. 
 
                    Journal of investigative medicine : the official publication of the American Federation for Clinical Research. 
            
             1996
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 3
-     
    
    
                     The effects of peer ridicule on depression and self-image among adolescent females with Turner syndrome. 
 
                    The Journal of adolescent health : official publication of the Society for Adolescent Medicine. 
            
             1996
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 43
-     
    
    
                     Health care utilization and perceptions of health among adolescents and adults with Turner syndrome. 
 
                    Clinical genetics. 
            
             1995
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 14
-     
    
    
                     Contribution of heritable disorders to mortality in the pediatric intensive care unit. 
 
                    Pediatrics. 
            
             1995
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 28
-     
    
    
                     Clinical and molecular characterization of patients with distal 11q deletions. 
 
                    American journal of human genetics. 
            
             1995
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 170
-     
    
    
                     Deaths associated with renal agenesis: a population-based study of birth prevalence, case ascertainment, and etiologic heterogeneity. 
 
                    Teratology. 
            
             1994
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 8
-     
    
    
                     Contribution of genetic disorders to neonatal mortality in a regional intensive care setting. 
 
                    American journal of perinatology. 
            
             1994
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 24
-     
    
    
                     Genetics of Aicardi syndrome. 
 
                    Survey of ophthalmology.
            
             1993
             
			
			
			
			
			
			 Letter
 			GET IT
 			
 Times cited: 4
-     
    
    
                     Malformations and minor anomalies in non-trisomic, autosomal aneuploidy. 
 
                    American journal of medical genetics. 
            
             1993
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 1
-     
    
    
                     Perinatal lethal conditions: the effect of diagnosis on decision making. 
 
                    Obstetrics and gynecology. 
            
             1993
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 28
-     
    
    
                     High-resolution cytogenetic characterization of telomeric associations in ring chromosome 19. 
 
                    Human genetics. 
            
             1993
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 14
- Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study. Birth defects research. 1993 Academic Article GET IT
-     
    
    
                     Second-trimester markers of fetal size in schizophrenia: a study of monozygotic twins. 
 
                    The American journal of psychiatry. 
            
             1992
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 109
-     
    
    
                     Predicting needs for special education resources for mental retardation from birth defects records. 
 
                    Public health reports (Washington, D.C. : 1974). 
            
             1992
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 5
-     
    
    
                     Ovarian dysgenesis in individuals with chromosomal abnormalities. 
 
                    Human genetics. 
            
             1991
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 46
-     
    
    
                     Hypohidrotic ectodermal dysplasia. 
 
                    Pediatric dermatology. 
            
             1990
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 5
-     
    
    
                     Patterns of malformation in children with congenital diaphragmatic defects. 
 
                    The Journal of pediatrics. 
            
             1990
             
			
			
			
			
			
			Academic Article
 			GET IT
 			
 Times cited: 104
-     
    
    
                     Chromosome 10qter deletion syndrome: a review and report of three new cases. 
 
                    American journal of medical genetics.
            
             1989
             
			
			
			
			
			
			Review
 			GET IT
 			
 Times cited: 64
 
         