Cunniff, Christopher Mccord

Publications

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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
Times cited: 2
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights. Birth defects research. 2022 Academic Article GET IT
Times cited: 3
Exome sequencing identifies variants in infants with sacral agenesis. Birth defects research. 2022 Academic Article GET IT
Times cited: 1
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
Times cited: 2
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.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: 7
Rapid genotype imputation from sequence with reference panels. Nature genetics. 2021 Academic Article GET IT
Times cited: 20
Left ventricular dysfunction in Duchenne muscular dystrophy. Cardiology in the young. 2020 Academic Article GET IT
Times cited: 7
Priorities for Newborn Screening of Genetic Epilepsy. Pediatric neurology. 2019 Letter GET IT
Times cited: 1
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: 28
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: 4
Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant. 2019 GET IT
Times cited: 1
Palliative care services in families of males with muscular dystrophy: Data from MD STARnet. SAGE open medicine. 2019 Academic Article GET IT
Times cited: 7
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: 4
Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study. Birth defects research. 2018 Academic Article GET IT
Times cited: 2
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: 11
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: 6
Health supervision for people with Bloom syndrome. American journal of medical genetics. Part A. 2018 Academic Article GET IT
Times cited: 28
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: 1
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: 17
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: 12
DSM Criteria that Best Differentiate Intellectual Disability from Autism Spectrum Disorder. Child psychiatry and human development. 2017 Academic Article GET IT
Times cited: 28
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: 12
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 Review GET IT
Times cited: 74
Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy. Journal of child neurology. 2017 Academic Article GET IT
Times cited: 37
Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia. 2017 GET IT
Times cited: 1
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. Molecular syndromology. 2016 Review GET IT
Times cited: 136
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: 16
Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy From 2000 to 2011. Respiratory care. 2016 Academic Article GET IT
Times cited: 19
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: 22
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: 27
Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy. Journal of pediatric orthopedics. 2015 Academic Article GET IT
Times cited: 18
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: 8
Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics. 2015 Academic Article GET IT
Times cited: 150
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: 39
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: 18
Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies. Muscle & nerve. 2014 Academic Article GET IT
Times cited: 9
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: 6
Potential impact of DSM-5 criteria on autism spectrum disorder prevalence estimates. JAMA psychiatry. 2014 Academic Article GET IT
Times cited: 143
Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy. The Journal of pediatrics. 2013 Academic Article GET IT
Times cited: 97
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: 51
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: 8
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
Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction. American journal of medical genetics. Part C, Seminars in medical genetics. 2012 Article GET IT
Times cited: 2
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. American journal of medical genetics. Part A. 2012 Academic Article GET IT
Times cited: 38
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: 62
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: 52
Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children. Pediatrics. 2012 Academic Article GET IT
Times cited: 66
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: 19
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: 21
Palliative care services in families of males with Duchenne muscular dystrophy. Muscle & nerve. 2011 Academic Article GET IT
Times cited: 29
Prenatal genetic screening and diagnosis for pediatricians. Current opinion in pediatrics. 2010 Review GET IT
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 GET IT
Times cited: 56
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: 319
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: 39
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: 61
The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities. Advances in experimental medicine and biology. 2010 Review GET IT
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 GET IT
Times cited: 167
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: 121
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: 21
Advanced parental age and the risk of autism spectrum disorder. American journal of epidemiology. 2008 Academic Article GET IT
Times cited: 294
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. 2007 GET IT
Times cited: 150
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 GET IT
Times cited: 6
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: 80
Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. American journal of medical genetics. Part A. 2005 Review GET IT
Times cited: 27
There might be gold at the end of the rainbow. Pediatrics. 2005 Letter GET IT
Prenatal screening and diagnosis for pediatricians. Pediatrics. 2004 Review GET IT
Times cited: 28
Phenotype and X inactivation in 45,X/46,X,r(X) cases. 2004 GET IT
Times cited: 31
Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. American journal of medical genetics. Part A. 2004 Review GET IT
Times cited: 42
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: 27
Athabascan brainstem dysgenesis syndrome. 2003 GET IT
Times cited: 62
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: 253
Health supervision for children with Turner syndrome. Pediatrics. 2003 Review GET IT
Times cited: 110
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
Autosomal dominant inheritance pattern for trigger thumb. 2002 GET IT
Times cited: 17
Genetic evaluation and counseling for congenital deafness. Advances in oto-rhino-laryngology. 2002 Academic Article GET IT
Times cited: 2
Molecular mechanisms in neurologic disorders. Seminars in pediatric neurology. 2001 Review GET IT
Times cited: 7
American Academy of Pediatrics: Health care supervision for children with Williams syndrome. 2001 GET IT
Times cited: 127
American Academy of Pediatrics: Maternal phenylketonuria. 2001 GET IT
Times cited: 13
Molecular genetic testing in pediatric practice: A subject review. Committee on Genetics. Pediatrics. 2000 Review GET IT
Times cited: 43
Variable presentation of Rothmund-Thomson syndrome. 2000 GET IT
Times cited: 33
Evaluation of the newborn with developmental anomalies of the external genitalia. American Academy of Pediatrics. Committee on Genetics. 2000 GET IT
Times cited: 140
Folic acid for the prevention of neural tube defects. American Academy of Pediatrics. Committee on Genetics. 1999 GET IT
Times cited: 150
Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities. American journal of medical genetics. 1998 Academic Article GET IT
Times cited: 25
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: 370
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. American journal of medical genetics. 1997 Letter GET IT
Times cited: 6
Cardiovascular malformations in Smith-Lemli-Opitz syndrome. American journal of medical genetics. 1997 Review GET IT
Times cited: 74
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: 193
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: 45
Health care utilization and perceptions of health among adolescents and adults with Turner syndrome. Clinical genetics. 1995 Academic Article GET IT
Times cited: 15
Contribution of heritable disorders to mortality in the pediatric intensive care unit. Pediatrics. 1995 Academic Article GET IT
Times cited: 29
Ehlers-Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time. 1995 GET IT
Times cited: 29
Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization. 1995 GET IT
Times cited: 36
Clinical and molecular characterization of patients with distal 11q deletions. American journal of human genetics. 1995 Academic Article GET IT
Times cited: 163
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: 25
Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15). 1994 GET IT
Times cited: 14
Ocular anomalies in the alagille syndrome (arteriohepatic dysplasia). 1993 GET IT
Times cited: 44
Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. 1993 GET IT
Times cited: 41
Radiological features in Brachmann-de Lange syndrome. American journal of medical genetics. 1993 Review GET IT
Times cited: 33
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
Congenital microgastria and limb reduction defects. Pediatrics. 1993 Review GET IT
Times cited: 24
High-resolution cytogenetic characterization of telomeric associations in ring chromosome 19. Human genetics. 1993 Academic Article GET IT
Times cited: 14
Aicardi syndrome: more than meets the eye. 1993 GET IT
Times cited: 48
Genetics of Aicardi syndrome. Survey of ophthalmology. 1993 Letter GET IT
Times cited: 4
Variable presentation of cytochrome c oxidase deficiency. 1992 GET IT
Times cited: 15
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
Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex. 1992 GET IT
Times cited: 64
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
Interstitial deletion of chromosome 2q associated with ovarian dysgenesis. 1991 GET IT
Times cited: 19
Ovarian dysgenesis in individuals with chromosomal abnormalities. Human genetics. 1991 Academic Article GET IT
Times cited: 50
Craniosynostosis and lid anomalies: report of a girl with Michels syndrome. 1990 GET IT
Times cited: 10
Hypohidrotic ectodermal dysplasia. Pediatric dermatology. 1990 Academic Article GET IT
Times cited: 5
Terminal deletions of the long arm of chromosome 7: five new cases. 1990 GET IT
Times cited: 23
Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. 1990 GET IT
Times cited: 51
Patterns of malformation in children with congenital diaphragmatic defects. The Journal of pediatrics. 1990 Academic Article GET IT
Times cited: 108
Oligohydramnios sequence and renal tubular malformation associated with maternal enalapril use. 1990 GET IT
Times cited: 81
Chromosome 10qter deletion syndrome: a review and report of three new cases. American journal of medical genetics. 1989 Review GET IT
Times cited: 67
Laterality defects in conjoined twins: implications for normal asymmetry in human embryogenesis. 1988 GET IT
Times cited: 32
Autosomal dominant benign neonatal seizures. 1988 GET IT
Times cited: 18

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Background

education and training

M.D., University of Alabama School of Medicine 1984
B.A., University of Alabama 1980

Contact

full name

Christopher Mccord Cunniff

primary email

cmc9039@med.cornell.edu

VIVO Weill Cornell Medical College

Christopher Mccord Cunniff Clinical Professor of Pediatrics

Publications

selected publications

Background

education and training

Contact

full name

primary email