S. K. Shapira

发表

Associations Between the 2nd to 4th Digit Ratio and Autism Spectrum Disorder in Population-Based Samples of Boys and Girls: Findings from the Study to Explore Early Development

L. Schieve, N. Dowling, J. Hoover-Fong, 2018, Journal of autism and developmental disorders.

Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study

Tania A Desrosiers, A. Olshan, A. Herring, 2012, Occupational and Environmental Medicine.

The National Birth Defects Prevention Study: A review of the methods.

A. Olshan, G. Shaw, S. Gilboa, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism

Janelle Y Lee, B. Fireman, M. Summar, 2009, Pediatrics.

ADHD Medication Use During Pregnancy and Risk for Selected Birth Defects: National Birth Defects Prevention Study, 1998-2011

S. Visser, S. Farr, J. Reefhuis, 2020, Journal of attention disorders.

Databases for Congenital Heart Defect Public Health Studies Across the Lifespan

Graham Rush, J. Belmont, M. Jacobs, 2016, Journal of the American Heart Association.

Future Research Directions to Identify Causes of the Increasing Incidence Rate of Congenital Hypothyroidism in the United States

C. Boyle, M. Lloyd-Puryear, S. K. Shapira, 2010, Pediatrics.

Monosomy 1 p 36

er, A. Slavotinek, S. K. Shapira, 1999 .

Treated Prevalence of Attention-Deficit/Hyperactivity Disorder Increased from 2009 to 2015 Among School-Aged Children and Adolescents in the United States.

S. Visser, Joseph R. Holbrook, S. Grosse, 2017, Journal of child and adolescent psychopharmacology.

What we don't know can hurt us: Nonresponse bias assessment in birth defects research.

S. Grosse, R. Meyer, S. Tinker, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Health Supervision for Children and Adolescents With Down Syndrome.

Randall W. Grout, J. A. Scott, J. Stoler, 2022, Pediatrics.

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

E. Zackai, L. Schieve, J. Hoover-Fong, 2019, Journal of Autism and Developmental Disorders.

State-specific prevalence of current e-cigarette use by disability status and disability type-United States, BRFSS 2016-2018.

B. Armour, S. K. Shapira, Elizabeth A. Courtney-Long, 2021, Disability and health journal.

Survival Disparities Associated with Congenital Diaphragmatic Hernia.

A. Correa, C. Siffel, S. K. Shapira, 2017, Birth defects research.

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

L. Shaffer, J. Korenberg, V. Sutton, 1997, American journal of human genetics.

Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.

L. Shaffer, P. Scambler, A. Baldini, 1993, American journal of medical genetics.

Long-term speech and language developmental issues among children with Duarte galactosemia

Rani H. Singh, M. Yeargin-Allsopp, K. V. N. Braun, 2009, Genetics in Medicine.

Prevalence of developmental disabilities and receipt of special education services among children with an inborn error of metabolism.

Rani H. Singh, M. Yeargin-Allsopp, K. Van Naarden Braun, 2010, The Journal of pediatrics.

Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects.

M. Werler, S. K. Shapira, J. Bosco, 2009, Birth defects research. Part A, Clinical and molecular teratology.

Molecular basis of phenotypic variation in patients with argininemia

I. Matsuda, M. Lambert, C. Jakobs, 1995, Human Genetics.

Expanding diagnostic testing beyond cytogenetics: implications for birth defects research and surveillance.

S. K. Shapira, C. Druschel, J. M. Jackson, 2013, Birth defects research. Part A, Clinical and molecular teratology.

De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.

L. Shaffer, J. Lupski, W. Craigen, 1994, American journal of medical genetics.

Induction of germ-line and mature C epsilon transcripts in human B cells stimulated with rIL-4 and EBV.

E. Kieff, R. Geha, D. Vercelli, 1990, Journal of immunology.

Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐up

W. Hop, W. Arts, A. Vulto, 2004, Annals of neurology.

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

L. Shaffer, R. Lewis, B. Ballif, 2003, American journal of human genetics.

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

P. Doorn, M. Hagemans, S. K. Shapira, 2008, Neuromuscular Disorders.

Infants with Congenital Disorders Identified Through Newborn Screening — United States, 2015–2017

S. Grosse, S. K. Shapira, C. Hinton, 2020, MMWR. Morbidity and mortality weekly report.

Single newborn screen or routine second screening for primary congenital hypothyroidism.

S. K. Shapira, C. Hinton, Cynthia F Hinton, 2015, Molecular genetics and metabolism.

Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states.

W. H. Hannon, S. K. Shapira, C. Hinton, 2015, Molecular genetics and metabolism.

Deletional switch recombination occurs in interleukin-4-induced isotype switching to IgE expression by human B cells.

R. Geha, D. Vercelli, H. Jabara, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Treatment Discontinuation within 3 Years of Levothyroxine Initiation among Children Diagnosed with Congenital Hypothyroidism.

A. Kemper, S. Grosse, S. K. Shapira, 2020, The Journal of pediatrics.

Treatment Discontinuation by 3 Years After Levothyroxine Initiation among Children Diagnosed with Congenital Hypothyroidism

A. Kemper, S. Grosse, S. K. Shapira, 2020 .

The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network

S. Hepburn, S. Levy, J. Pinto-Martin, 2012, Journal of Autism and Developmental Disorders.

CDC Grand Rounds: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease

J. Iskander, S. Grosse, C. Mason, 2017, MMWR. Morbidity and mortality weekly report.

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

E. Zackai, L. Schieve, J. Hoover-Fong, 2019, Journal of Autism and Developmental Disorders.

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

J. Dumanski, H. McDermid, T. Kurczynski, 1994, American journal of human genetics.

Loss of the Potassium Channel β‐Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome

L. Shaffer, C. Kashork, Yuan-qing Wu, 2001, Epilepsia.

Genetic Risks to the Mother and the Infant: Assessment, Counseling, and Management

Siobhan M. Dolan, S. Dolan, S. K. Shapira, 2006, Maternal and Child Health Journal.

Beta-galactosidase gene fusions for analyzing gene expression in escherichia coli and yeast.

A. Martinez-Arias, M. Casadaban, S. K. Shapira, 1983, Methods in enzymology.

New versatile plasmid vectors for expression of hybrid proteins coded by a cloned gene fused to lacZ gene sequences encoding an enzymatically active carboxy-terminal portion of beta-galactosidase.

F. Richaud, M. Casadaban, S. K. Shapira, 1983, Gene.

A Urea Cycle Defect Presenting as Acute Cerebellar Ataxia in a 3-Year-Old Girl

G. Clark, S. K. Shapira, C. Keller, 1998, Journal of child neurology.

Arginase deficiency presenting as cerebral palsy.

A. Beaudet, A. Scheuerle, S. K. Shapira, 1993, Pediatrics.

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).

S. Orlow, M. Golabi, J. Zonana, 2000, American journal of human genetics.

Monosomy 1p36

L. Shaffer, A. Slavotinek, S. K. Shapira, 1999, Journal of medical genetics.

Familial complex chromosomal rearrangement resulting in a recombinant chromosome.

L. Shaffer, C. Bacino, O. Bodamer, 2002, American journal of medical genetics.

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.

L. Shaffer, M. Leppert, S. Gagos, 1998, American journal of medical genetics.

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

L. Shaffer, J. Lupski, C. Kashork, 1999, American journal of human genetics.

An update on chromosome deletion and microdeletion syndromes.

S. K. Shapira, 1998, Current opinion in pediatrics.

Fine mapping of mutations in the fusion-inducing MP strain of herpes simplex virus type 1.

K. Pogue-Geile, P. Spear, G. T. Lee, 1984, Virology.

Hybrid protein thymidine kinase gene fusions: plasmid vectors for the study of transcription and translation initiation signals.

M. Casadaban, S. K. Shapira, 1987, Gene.

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.

L. Shaffer, J. McPherson, Yuan-qing Wu, 1999, Human molecular genetics.

The use of genetic complementation in the study of eukaryotic macromolecular evolution: Rate of spontaneous gene duplication at two loci ofDrosophila melanogaster

S. K. Shapira, V. Finnerty, 2005, Journal of Molecular Evolution.

Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring.

L. Shaffer, S. Gagos, A. Orr-Urtreger, 1997, American journal of medical genetics.

Association of paternal age and risk for major congenital anomalies from the National Birth Defects Prevention Study, 1997 to 2004.

A. Olshan, O. Devine, Krista S Crider, 2010, Annals of epidemiology.

Molecular analysis of the induction of immunoglobulin E synthesis in human B cells by interleukin 4 and engagement of CD40 antigen

R. Geha, D. Vercelli, H. Jabara, 1992, The Journal of experimental medicine.

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.

D. Nickerson, J. Mullikin, A. Olshan, 2019, Birth defects research.

Use of special education services among children with and without congenital gastrointestinal anomalies.

D. Schendel, S. Hamrick, M. Strickland, 2010, American journal on intellectual and developmental disabilities.

The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network

Craig Newschaffer, Cordelia Robinson, Stuart K. Shapira, 2012, Journal of Autism and Developmental Disorders.

23 – β-Galactosidase Gene Fusions for Analyzing Gene Expression in Escherichia coli and Yeast

A. Martinez-Arias, M. Casadaban, S. K. Shapira, 1989 .

Identification of Primary Congenital Hypothyroidism Based on Two Newborn Screens — Utah, 2010–2016

S. K. Shapira, A. Rohrwasser, Robyn Atkinson-Dunn, 2018, MMWR. Morbidity and mortality weekly report.

Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening.

L. Bachrach, M. Geffner, S. K. Shapira, 2017, Annals of thyroid research.

Detecting moderate or complex congenital heart defects in adults from an electronic health records system

Alpha Oumar Diallo, Asha Krishnaswamy, Stuart K. Shapira, 2018, J. Am. Medical Informatics Assoc..

Bries DeBJaitive Report Molecular Analysis of the Induction of lmmunoglobulin E Synthesis in Human B Cells by Interleukln 4 and Engagement of CD40 Antigen

H. Jabara, S. K. Shapira, Shuhong Man, 2003 .

Birth prevalence rates of newborn screening disorders in relation to screening practices in the United States.

V. Hertzberg, B. Therrell, S. K. Shapira, 2011, The Journal of pediatrics.

Rationale for periodic reporting on the use of selected clinical preventive services to improve the health of infants, children, and adolescents--United States.

S. Thacker, F. Shaw, R. Coates, 2014, MMWR supplements.

Mitochondrial DNA Depletion Associated With Partial Complex II and IV Deficiencies and 3-Methylglutaconic Aciduria

R. Naviaux, V. Sutton, F. Scaglia, 2001, Journal of child neurology.

Associations Between the 2nd to 4th Digit Ratio and Autism Spectrum Disorder in Population-Based Samples of Boys and Girls: Findings from the Study to Explore Early Development

L. Schieve, N. Dowling, J. Hoover-Fong, 2018, Journal of Autism and Developmental Disorders.

Relationship of Weight Outcomes, Co‐Occurring Conditions, and Severity of Autism Spectrum Disorder in the Study to Explore Early Development

Susan L. Johnson, S. Levy, J. Pinto-Martin, 2019, The Journal of pediatrics.

DNA deletion confined to the iduronate‐2‐sulfatase promoter abolishes IDS gene expression

R. Gibbs, J. Belmont, K. Timms, 1998, Human mutation.

Invited Commentary: Male Reproductive System Congenital Malformations and the Risk of Autism Spectrum Disorder.

L. Schieve, S. K. Shapira, 2018, American journal of epidemiology.

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.

B. Bejjani, C. Bacino, F. Kruyt, 1999, American journal of medical genetics.

Progress in expanding newborn screening in the United States.

A. Kemper, S. Grosse, S. K. Shapira, 2023, American journal of human genetics.

Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder

E. Zackai, L. Schieve, N. Dowling, 2020, Autism research : official journal of the International Society for Autism Research.

Recombinant DNA. Part B.

S. K. Shapira, C. Radding, L. Osber, 1983, Methods in enzymology.

Hyperargininemia: a treatable inborn error of metabolism?

R. C. Green, A. Beaudet, E. Hirsch, 1997 .

Hyperorgininemia: a treatable inborn error of metabolism

Roth, A. Beaudet, S. Cederbaum, 1997 .

ADHD Medication Use During Pregnancy and Risk for Selected Birth Defects: National Birth Defects Prevention Study, 1998-2011

S. Visser, S. Farr, J. Reefhuis, 2020, Journal of Attention Disorders.

Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states.

W. H. Hannon, S. K. Shapira, Cynthia F Hinton, 2015, Molecular genetics and metabolism.

Expanding diagnostic testing beyond cytogenetics: implications for birth defects research and surveillance.

S. K. Shapira, C. Druschel, J. M. Jackson, 2013, Birth defects research. Part A, Clinical and molecular teratology.

What we don't know can hurt us: Nonresponse bias assessment in birth defects research.

S. Grosse, R. Meyer, P. Strassle, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Invited Commentary Invited Commentary: Male Reproductive SystemCongenital Malformations and the Risk of Autism SpectrumDisorder

L. Schieve, S. K. Shapira, 2018 .