selected publications
- G-quadruplexes regulate chromatin accessibility and gene expression in Bloom Syndrome. bioRxiv : the preprint server for biology. 2026 Article GET IT
- 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. 2025 Academic Article GET IT
- Increased frequency of clonal hematopoiesis of indeterminate potential in Bloom syndrome probands and carriers. Haematologica. 2025 Academic Article GET IT
- Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers. medRxiv : the preprint server for health sciences. 2024 Article GET IT
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Bloom syndrome patients and mice display accelerated epigenetic aging.
Aging cell.
2023
Academic Article
GET IT
Times cited: 7 - A 12-Day-Old Female with Hypothermia, Hypoglycemia and Hyperbilirubinemia. Pediatrics. 2022 Academic Article GET IT
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Health Supervision for Children and Adolescents With Down Syndrome.
Pediatrics.
2022
Academic Article
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Times cited: 235 -
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
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Times cited: 22 -
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.
Birth defects research.
2022
Academic Article
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Times cited: 16 -
Exome sequencing identifies variants in infants with sacral agenesis.
Birth defects research.
2022
Academic Article
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Times cited: 3 -
Familial colloid cysts: not a chance occurrence.
Journal of neuro-oncology.
2022
Information Resource
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Times cited: 1 -
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
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Times cited: 4 -
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.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: 20 -
Rapid genotype imputation from sequence with reference panels.
Nature genetics.
2021
Academic Article
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Times cited: 72 -
Left ventricular dysfunction in Duchenne muscular dystrophy.
Cardiology in the young.
2020
Academic Article
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Times cited: 21 -
Priorities for Newborn Screening of Genetic Epilepsy.
Pediatric neurology.
2019
Article
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Times cited: 4 -
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: 40 -
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: 8 -
Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.
2019
Article
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Times cited: 3 -
Palliative care services in families of males with muscular dystrophy: Data from MD STARnet.
SAGE open medicine.
2019
Academic Article
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Times cited: 10 -
A Review of MD STAR net's Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017.
Journal of child neurology.
2018
Information Resource
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Times cited: 7 -
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: 16 -
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: 14 -
Health supervision for people with Bloom syndrome.
American journal of medical genetics. Part A.
2018
Academic Article
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Times cited: 52 -
Implementation of Duchenne Muscular Dystrophy Care Considerations.
Pediatrics.
2018
Academic Article
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Times cited: 17 -
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: 30 -
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: 16 -
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: 42 - Noninvasive Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy Since 1979-Reply. Respiratory care. 2017 Article 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: 15 -
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Clinical cancer research : an official journal of the American Association for Cancer Research.
2017
Information Resource
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Times cited: 101 -
Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.
Journal of child neurology.
2017
Academic Article
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Times cited: 57 -
Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia.
Cardiology in the young.
2017
Article
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Times cited: 2 -
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
Molecular syndromology.
2016
Information Resource
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Times cited: 214 -
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: 22 -
Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy From 2000 to 2011.
Respiratory care.
2016
Academic Article
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Times cited: 25 -
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: 32 -
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: 42 -
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: 26 -
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: 11 -
Prevalence of Duchenne and Becker muscular dystrophies in the United States.
Pediatrics.
2015
Academic Article
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Times cited: 197 -
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: 45 -
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: 21 -
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: 7 -
Potential impact of DSM-5 criteria on autism spectrum disorder prevalence estimates.
JAMA psychiatry.
2014
Academic Article
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Times cited: 176 -
Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy.
The Journal of pediatrics.
2013
Academic Article
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Times cited: 130 -
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: 62 -
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: 8 -
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 -
Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction.
American journal of medical genetics. Part C, Seminars in medical genetics.
2012
Editorial Article
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Times cited: 5 -
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: 44 -
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: 78 -
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: 62 -
Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children.
Pediatrics.
2012
Academic Article
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Times cited: 74 -
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: 22 -
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: 35 -
Palliative care services in families of males with Duchenne muscular dystrophy.
Muscle & nerve.
2011
Academic Article
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Times cited: 36 -
Prenatal genetic screening and diagnosis for pediatricians.
Current opinion in pediatrics.
2010
Information Resource
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Times cited: 3 -
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: 64 -
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: 406 -
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: 47 -
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: 24 -
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: 65 -
The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities.
Advances in experimental medicine and biology.
2010
Information Resource
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Times cited: 3 -
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: 208 -
Re: "Advanced parental age and the risk of autism spectrum disorder".
American journal of epidemiology.
2009
Article
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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: 149 -
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: 25 -
Advanced parental age and the risk of autism spectrum disorder.
American journal of epidemiology.
2008
Academic Article
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Times cited: 328 -
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Genetics in medicine : official journal of the American College of Medical Genetics.
2007
Article
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Times cited: 160 -
Clinician reviewers in birth defects surveillance programs: survey of the National Birth Defects Prevention Network.
Birth defects research. Part A, Clinical and molecular teratology.
2006
Academic Article
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Times cited: 7 -
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: 93 -
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.
American journal of medical genetics. Part A.
2005
Article
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Times cited: 31 - There might be gold at the end of the rainbow. Pediatrics. 2005 Article GET IT
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Prenatal screening and diagnosis for pediatricians.
Pediatrics.
2004
Information Resource
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Times cited: 30 -
Phenotype and X inactivation in 45,X/46,X,r(X) cases.
American journal of medical genetics. Part A.
2004
Article
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Times cited: 38 -
Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.
American journal of medical genetics. Part A.
2004
Article
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Times cited: 56 -
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
Information Resource
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Times cited: 27 -
Athabascan brainstem dysgenesis syndrome.
American journal of medical genetics. Part A.
2003
Article
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Times cited: 69 -
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: 298 -
Health supervision for children with Turner syndrome.
Pediatrics.
2003
Information Resource
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Times cited: 121 -
Turner syndrome.
Adolescent medicine (Philadelphia, Pa.).
2002
Information Resource
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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: 24 -
Autosomal dominant inheritance pattern for trigger thumb.
Plastic and reconstructive surgery.
2002
Article
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Times cited: 22 -
Genetic evaluation and counseling for congenital deafness.
Advances in oto-rhino-laryngology.
2002
Academic Article
GET IT
Times cited: 3 -
Molecular mechanisms in neurologic disorders.
Seminars in pediatric neurology.
2001
Information Resource
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Times cited: 7 -
American Academy of Pediatrics: Health care supervision for children with Williams syndrome.
Pediatrics.
2001
Information Resource
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Times cited: 150 -
American Academy of Pediatrics: Maternal phenylketonuria.
Pediatrics.
2001
Information Resource
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Times cited: 13 -
Molecular genetic testing in pediatric practice: A subject review. Committee on Genetics.
Pediatrics.
2000
Information Resource
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Times cited: 44 -
Variable presentation of Rothmund-Thomson syndrome.
American journal of medical genetics.
2000
Article
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Times cited: 38 -
Evaluation of the newborn with developmental anomalies of the external genitalia. American Academy of Pediatrics. Committee on Genetics.
Pediatrics.
2000
Information Resource
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Times cited: 159 -
Folic acid for the prevention of neural tube defects. American Academy of Pediatrics. Committee on Genetics.
Pediatrics.
1999
Information Resource
GET IT
Times cited: 169 -
Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities.
American journal of medical genetics.
1998
Academic Article
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Times cited: 27 - 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
Information Resource
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Times cited: 386 -
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus.
American journal of medical genetics.
1997
Article
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Times cited: 6 -
Cardiovascular malformations in Smith-Lemli-Opitz syndrome.
American journal of medical genetics.
1997
Information Resource
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Times cited: 83 -
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: 205 -
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: 51 -
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: 16 -
Contribution of heritable disorders to mortality in the pediatric intensive care unit.
Pediatrics.
1995
Academic Article
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Times cited: 31 -
Ehlers-Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time.
Clinical dysmorphology.
1995
Article
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Times cited: 29 -
Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization.
American journal of medical genetics.
1995
Article
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Times cited: 36 -
Clinical and molecular characterization of patients with distal 11q deletions.
American journal of human genetics.
1995
Academic Article
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Times cited: 171 -
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: 27 -
Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15).
American journal of medical genetics.
1994
Article
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Times cited: 18 -
Ocular anomalies in the alagille syndrome (arteriohepatic dysplasia).
Ophthalmology.
1993
Article
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Times cited: 49 -
Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome.
American journal of medical genetics.
1993
Article
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Times cited: 41 -
Radiological features in Brachmann-de Lange syndrome.
American journal of medical genetics.
1993
Article
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Times cited: 34 -
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
GET IT
Times cited: 28 -
Congenital microgastria and limb reduction defects.
Pediatrics.
1993
Article
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Times cited: 27 -
High-resolution cytogenetic characterization of telomeric associations in ring chromosome 19.
Human genetics.
1993
Academic Article
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Times cited: 16 -
Aicardi syndrome: more than meets the eye.
Survey of ophthalmology.
1993
Article
GET IT
Times cited: 50 -
Genetics of Aicardi syndrome.
Survey of ophthalmology.
1993
Article
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Times cited: 4 -
Variable presentation of cytochrome c oxidase deficiency.
American journal of diseases of children (1960).
1992
Article
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Times cited: 15 -
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: 111 -
Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex.
American journal of medical genetics.
1992
Article
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Times cited: 69 -
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 -
Interstitial deletion of chromosome 2q associated with ovarian dysgenesis.
Clinical genetics.
1991
Article
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Times cited: 19 -
Ovarian dysgenesis in individuals with chromosomal abnormalities.
Human genetics.
1991
Academic Article
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Times cited: 53 -
Craniosynostosis and lid anomalies: report of a girl with Michels syndrome.
American journal of medical genetics.
1990
Article
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Times cited: 11 -
Hypohidrotic ectodermal dysplasia.
Pediatric dermatology.
1990
Academic Article
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Times cited: 5 -
Terminal deletions of the long arm of chromosome 7: five new cases.
American journal of medical genetics.
1990
Article
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Times cited: 23 -
Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia.
Pediatrics.
1990
Article
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Times cited: 52 -
Patterns of malformation in children with congenital diaphragmatic defects.
The Journal of pediatrics.
1990
Academic Article
GET IT
Times cited: 109 -
Oligohydramnios sequence and renal tubular malformation associated with maternal enalapril use.
American journal of obstetrics and gynecology.
1990
Article
GET IT
Times cited: 86 -
Chromosome 10qter deletion syndrome: a review and report of three new cases.
American journal of medical genetics.
1989
Article
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Times cited: 70 -
Laterality defects in conjoined twins: implications for normal asymmetry in human embryogenesis.
American journal of medical genetics.
1988
Article
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Times cited: 34 -
Autosomal dominant benign neonatal seizures.
American journal of medical genetics.
1988
Article
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Times cited: 19