selected publications
- 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
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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.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
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Times cited: 2 -
Rapid genotype imputation from sequence with reference panels.
Nature genetics.
2021
Academic Article
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Times cited: 37 -
Left ventricular dysfunction in Duchenne muscular dystrophy.
Cardiology in the young.
2020
Academic Article
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Times cited: 11 -
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
American journal of human genetics.
2019
Academic Article
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Times cited: 31 -
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
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Times cited: 6 - Palliative care services in families of males with muscular dystrophy: Data from MD STARnet. SAGE open medicine. 2019 Academic Article GET IT
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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
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Times cited: 6 -
Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study.
Birth defects research.
2018
Academic Article
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Times cited: 4 -
Maternal antihypertensive medication use and selected birth defects in the National Birth Defects Prevention Study.
Birth defects research.
2018
Academic Article
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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
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Times cited: 9 -
Health supervision for people with Bloom syndrome.
American journal of medical genetics. Part A.
2018
Academic Article
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Times cited: 22 -
Implementation of Duchenne Muscular Dystrophy Care Considerations.
Pediatrics.
2018
Academic Article
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Times cited: 8 -
Recognition of clinical characteristics for population-based surveillance of fetal alcohol syndrome.
Birth defects research.
2018
Academic Article
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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
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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
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Times cited: 14 -
DSM Criteria that Best Differentiate Intellectual Disability from Autism Spectrum Disorder.
Child psychiatry and human development.
2017
Academic Article
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Times cited: 23 - Noninvasive Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy Since 1979-Reply. Respiratory care. 2017 Letter GET IT
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Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype.
Annals of the New York Academy of Sciences.
2017
Academic Article
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Times cited: 10 -
Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.
Journal of child neurology.
2017
Academic Article
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Times cited: 51 -
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
Molecular syndromology.
2016
Information Resource
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Times cited: 176 -
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
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Times cited: 17 -
Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy From 2000 to 2011.
Respiratory care.
2016
Academic Article
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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
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Times cited: 29 -
Fluconazole use and birth defects in the National Birth Defects Prevention Study.
American journal of obstetrics and gynecology.
2015
Academic Article
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Times cited: 23 -
Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy.
Journal of pediatric orthopedics.
2015
Academic Article
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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
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Times cited: 10 -
Prevalence of Duchenne and Becker muscular dystrophies in the United States.
Pediatrics.
2015
Academic Article
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Times cited: 171 -
Fetal alcohol syndrome among children aged 7-9 years - Arizona, Colorado, and New York, 2010.
MMWR. Morbidity and mortality weekly report.
2015
Academic Article
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Times cited: 41 -
Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.
American journal of medical genetics. Part A.
2014
Academic Article
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Times cited: 15 -
Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies.
Muscle & nerve.
2014
Academic Article
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Times cited: 11 -
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.
American journal of medical genetics. Part A.
2014
Academic Article
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Times cited: 5 -
Potential impact of DSM-5 criteria on autism spectrum disorder prevalence estimates.
JAMA psychiatry.
2014
Academic Article
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Times cited: 159 -
Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy.
The Journal of pediatrics.
2013
Academic Article
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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
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Times cited: 59 -
Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy.
American journal of medical genetics. Part A.
2013
Academic Article
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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
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Times cited: 4 -
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
American journal of medical genetics. Part A.
2012
Academic Article
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Times cited: 40 -
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
American journal of human genetics.
2012
Academic Article
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Times cited: 71 -
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
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Times cited: 57 -
Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children.
Pediatrics.
2012
Academic Article
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Times cited: 60 -
Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy.
Journal of child neurology.
2011
Academic Article
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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
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Times cited: 19 -
Palliative care services in families of males with Duchenne muscular dystrophy.
Muscle & nerve.
2011
Academic Article
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Times cited: 27 -
Prenatal genetic screening and diagnosis for pediatricians.
Current opinion in pediatrics.
2010
Review
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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
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Times cited: 58 -
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
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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
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Times cited: 40 -
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
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Times cited: 21 -
Changes in autism spectrum disorder prevalence in 4 areas of the United States.
Disability and health journal.
2010
Academic Article
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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
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Times cited: 190 -
Re: "Advanced parental age and the risk of autism spectrum disorder".
American journal of epidemiology.
2009
Letter
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Times cited: 5 -
Elements of morphology: standard terminology for the head and face.
American journal of medical genetics. Part A.
2009
Academic Article
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Times cited: 135 -
Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.
Journal of child neurology.
2008
Academic Article
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Times cited: 22 -
Advanced parental age and the risk of autism spectrum disorder.
American journal of epidemiology.
2008
Academic Article
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Times cited: 307 -
The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology.
Birth defects research. Part A, Clinical and molecular teratology.
2006
Academic Article
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Times cited: 83 - There might be gold at the end of the rainbow. Pediatrics. 2005 Letter GET IT
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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
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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
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Times cited: 240 -
Turner syndrome.
Adolescent medicine (Philadelphia, Pa.).
2002
Review
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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
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Times cited: 23 -
Genetic evaluation and counseling for congenital deafness.
Advances in oto-rhino-laryngology.
2002
Academic Article
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Times cited: 2 -
Molecular genetic testing in pediatric practice: A subject review. Committee on Genetics.
Pediatrics.
2000
Review
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Times cited: 42 -
Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities.
American journal of medical genetics.
1998
Academic Article
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Times cited: 24 - Improving access to and utilization of genetic services in Arizona's Hispanic population. Community genetics. 1998 Academic Article GET IT
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Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
American journal of medical genetics.
1997
Conference Paper
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Times cited: 361 -
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus.
American journal of medical genetics.
1997
Letter
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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
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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
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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
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Times cited: 43 -
Health care utilization and perceptions of health among adolescents and adults with Turner syndrome.
Clinical genetics.
1995
Academic Article
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Times cited: 14 -
Contribution of heritable disorders to mortality in the pediatric intensive care unit.
Pediatrics.
1995
Academic Article
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Times cited: 28 -
Clinical and molecular characterization of patients with distal 11q deletions.
American journal of human genetics.
1995
Academic Article
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Times cited: 168 -
Deaths associated with renal agenesis: a population-based study of birth prevalence, case ascertainment, and etiologic heterogeneity.
Teratology.
1994
Academic Article
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Times cited: 8 -
Contribution of genetic disorders to neonatal mortality in a regional intensive care setting.
American journal of perinatology.
1994
Academic Article
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Times cited: 24 -
Genetics of Aicardi syndrome.
Survey of ophthalmology.
1993
Letter
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Times cited: 4 -
Malformations and minor anomalies in non-trisomic, autosomal aneuploidy.
American journal of medical genetics.
1993
Academic Article
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Times cited: 1 -
Perinatal lethal conditions: the effect of diagnosis on decision making.
Obstetrics and gynecology.
1993
Academic Article
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Times cited: 28 -
High-resolution cytogenetic characterization of telomeric associations in ring chromosome 19.
Human genetics.
1993
Academic Article
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Times cited: 14 -
Second-trimester markers of fetal size in schizophrenia: a study of monozygotic twins.
The American journal of psychiatry.
1992
Academic Article
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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
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Times cited: 5 -
Ovarian dysgenesis in individuals with chromosomal abnormalities.
Human genetics.
1991
Academic Article
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Times cited: 46 -
Hypohidrotic ectodermal dysplasia.
Pediatric dermatology.
1990
Academic Article
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Times cited: 5 -
Patterns of malformation in children with congenital diaphragmatic defects.
The Journal of pediatrics.
1990
Academic Article
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Times cited: 104 -
Chromosome 10qter deletion syndrome: a review and report of three new cases.
American journal of medical genetics.
1989
Review
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Times cited: 64