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S. K. Shapira · SciRah

Researcher profile · Semantic Scholar

S. K. Shapira

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S. K. Shapira — researcher profile on SciRah

h-index: 27
Works: 68
Citations: 3,533

Most-cited papers

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).
J. Zonana, M. Elder, L. Schneider, S. Orlow +7 more
2000American Journal of Human Genetics497 citations Open access
Semantic Scholar
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.
S. K. Shapira, C. McCaskill, H. Northrup, Aimee S. Spikes +5 more
1997American Journal of Human Genetics278 citations Open access
Semantic Scholar
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.
H. Heilstedt, B. Ballif, Leslie A. Howard, R. Lewis +5 more
2003American Journal of Human Genetics271 citations Open access
Semantic Scholar
23 – β-Galactosidase Gene Fusions for Analyzing Gene Expression in Escherichia coli and Yeast
M. Casadaban, A. Martinez-Arias, S. K. Shapira, J. Chou
1989234 citations
Semantic Scholar
Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐up
L. Winkel, J. V. D. van den Hout, J. Kamphoven, Janus A. M. Disseldorp +13 more
2004Annals of Neurology232 citations
Semantic Scholar
The National Birth Defects Prevention Study: a review of the methods
J. Reefhuis, S. Gilboa, Marlene T. Anderka, M. Browne +11 more
2015Birth defects research. Clinical and molecular teratology225 citations Open access
Semantic Scholar
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
D. Schendel, C. DiGuiseppi, L. Croen, M. D. Fallin +40 more
2012Journal of Autism and Developmental Disorders155 citations Open access
Semantic Scholar
Association of Paternal Age and Risk for Major Congenital Anomalies from the National Birth Defects Prevention Study, 1997–2004
R. Green, O. Devine, Krista S. Crider, R. Olney +3 more
2010Annals of Epidemiology123 citations Open access
Semantic Scholar
Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.
Elizabeth A. Lindsay, F. Greenberg, L. G. Shaffer, S. K. Shapira +2 more
1993American journal of medical genetics123 citations
Semantic Scholar
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.
Yuan-qing Wu, H. Heilstedt, J. A. Bedell, K. May +4 more
1999Human Molecular Genetics101 citations
Semantic Scholar
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.
C. V. van Capelle, L. Winkel, M. Hagemans, S. K. Shapira +5 more
2008Neuromuscular Disorders100 citations
Semantic Scholar
Loss of the Potassium Channel β‐Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome
H. Heilstedt, D. Burgess, A. Anderson, A. Chedrawi +8 more
2001Epilepsia98 citations Open access
Semantic Scholar
Monosomy 1p36
A. Slavotinek, L. Shaffer, S. K. Shapira
1999Journal of Medical Genetics98 citations Open access
Semantic Scholar
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
L. Potocki, Ken-Shiung Chen, T. Koeuth, James M. Killian +6 more
1999American Journal of Human Genetics70 citations Open access
Semantic Scholar
Infants with Congenital Disorders Identified Through Newborn Screening — United States, 2015–2017
M. Sontag, Careema Yusuf, S. Grosse, S. Edelman +9 more
2020MMWR. Morbidity and mortality weekly report60 citations Open access
Semantic Scholar
Maternal Vasoactive Exposures, Amniotic Bands, and Terminal Transverse Limb Defects
M. Werler, J. Bosco, S. K. Shapira
2009Birth defects research. Clinical and molecular teratology51 citations Open access
Semantic Scholar
Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism
N. Klein, Laurie Aukes, Janelle Y. Lee, B. Fireman +4 more
2009Pediatrics45 citations
Semantic Scholar
Molecular basis of phenotypic variation in patients with argininemia
T. Uchino, S. Snyderman, M. Lambert, I. Qureshi +5 more
1995Human Genetics44 citations
Semantic Scholar
Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states
P. Held, S. K. Shapira, Cynthia F. Hinton, Elizabeth Jones +2 more
2015Molecular Genetics and Metabolism42 citations Open access
Semantic Scholar
Relationship of Weight Outcomes, Co-Occurring Conditions, and Severity of Autism Spectrum Disorder in the Study to Explore Early Development
S. Levy, J. Pinto-Martin, Chyrise B. Bradley, J. Chittams +11 more
2018Jornal de Pediatria41 citations Open access
Semantic Scholar
ADHD Medication Use During Pregnancy and Risk for Selected Birth Defects: National Birth Defects Prevention Study, 1998–2011
Kayla N. Anderson, A. C. Dutton, C. Broussard, S. Farr +6 more
2018Journal of Attention Disorders41 citations Open access
Semantic Scholar
Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study
Tania A. Desrosiers, A. Herring, S. K. Shapira, M. Hooiveld +4 more
2012Occupational and Environmental Medicine36 citations Open access
Semantic Scholar
Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.
Barbara K. Goodman, L. G. Shaffer, Julie Rutberg, M. Leppert +8 more
1998American journal of medical genetics34 citations Open access
Semantic Scholar
Long-term speech and language developmental issues among children with Duarte galactosemia
K. Powell, K. Van Naarden Braun, Rani H. Singh, S. K. Shapira +2 more
2009Genetics in Medicine33 citations Open access
Semantic Scholar
CDC Grand Rounds: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease
Scott D. Grosse, T. Riehle-Colarusso, Marcus Gaffney, Craig A. Mason +4 more
2017MMWR. Morbidity and mortality weekly report28 citations Open access
Semantic Scholar
An update on chromosome deletion and microdeletion syndromes.
S. K. Shapira
1998Current opinion in pediatrics27 citations
Semantic Scholar
Hyperargininemia: a treatable inborn error of metabolism?
P. de Deyn, B. Marescau, I. Qureshi, S. Cederbaum +26 more
199727 citations
Semantic Scholar
Arginase deficiency presenting as cerebral palsy.
A. Scheuerle, R. Mcvie, Arthur L. Beaudet, S. K. Shapira
1993Pediatrics25 citations
Semantic Scholar
Single newborn screen or routine second screening for primary congenital hypothyroidism
S. K. Shapira, Cynthia F. Hinton, P. Held, Elizabeth Jones +2 more
2015Molecular Genetics and Metabolism24 citations Open access
Semantic Scholar
Ketoacidotic crisis as a presentation of mild ("benign") methylmalonic acidemia.
S. K. Shapira, F. Ledley, D. Rosenblatt, H. Levy
1991Jornal de Pediatria24 citations
Semantic Scholar
Survival Disparities Associated with Congenital Diaphragmatic Hernia
Cynthia F. Hinton, C. Siffel, A. Correa, S. K. Shapira
2017Birth Defects Research23 citations Open access
Semantic Scholar
Future Research Directions to Identify Causes of the Increasing Incidence Rate of Congenital Hypothyroidism in the United States
S. K. Shapira, M. Lloyd-Puryear, C. Boyle
2010Pediatrics23 citations
Semantic Scholar
Treated Prevalence of Attention-Deficit/Hyperactivity Disorder Increased from 2009 to 2015 Among School-Aged Children and Adolescents in the United States
K. Nyarko, S. Grosse, M. Danielson, Joseph R. Holbrook +2 more
2017Journal of child and adolescent psychopharmacology22 citations Open access
Semantic Scholar
Familial complex chromosomal rearrangement resulting in a recombinant chromosome.
S. A. Berend, O. Bodamer, S. K. Shapira, L. Shaffer +1 more
2002American journal of medical genetics22 citations
Semantic Scholar
Use of special education services among children with and without congenital gastrointestinal anomalies.
S. Hamrick, M. Strickland, S. K. Shapira, Andrew R Autry +1 more
2010American Journal on Intellectual and Developmental Disabilities17 citations
Semantic Scholar
Mitochondrial DNA Depletion Associated With Partial Complex II and IV Deficiencies and 3-Methylglutaconic Aciduria
F. Scaglia, V. Sutton, O. Bodamer, H. Vogel +3 more
2001Journal of Child Neurology17 citations
Semantic Scholar
Treatment Discontinuation by 3 Years After Levothyroxine Initiation among Children Diagnosed with Congenital Hypothyroidism
A. Kemper, S. Grosse, M. Baker, A. Pollock +2 more
2020Jornal de Pediatria16 citations Open access
Semantic Scholar
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
2005Journal of Molecular Evolution16 citations
Semantic Scholar
Hyperorgininemia: a treatable inborn error of metabolism
P. de Deyn, B. Marescau, I. Qureshi, S. Cederbaum +28 more
199715 citations
Semantic Scholar
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, L. Tian, N. Dowling, L. Croen +3 more
2018Journal of Autism and Developmental Disorders14 citations Open access
Semantic Scholar
Identification of Primary Congenital Hypothyroidism Based on Two Newborn Screens — Utah, 2010–2016
David E. Jones, K. Hart, S. K. Shapira, Mary Murray +2 more
2018MMWR. Morbidity and mortality weekly report13 citations Open access
Semantic Scholar
Birth prevalence rates of newborn screening disorders in relation to screening practices in the United States.
V. Hertzberg, Cynthia F. Hinton, B. Therrell, S. K. Shapira
2011Jornal de Pediatria13 citations
Semantic Scholar
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data
M. M. Jenkins, L. Almli, F. Pangilinan, Jessica X. Chong +25 more
2019Birth Defects Research12 citations Open access
Semantic Scholar
A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development
S. K. Shapira, L. Tian, A. Aylsworth, E. Elias +8 more
2019Journal of Autism and Developmental Disorders12 citations Open access
Semantic Scholar
Genetic Risks to the Mother and the Infant: Assessment, Counseling, and Management
S. K. Shapira, S. Dolan
2006Maternal and Child Health Journal12 citations Open access
Semantic Scholar
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.
F. Abouzahr, B. Bejjani, Frank A. E. Kruyt, Reet Kurg +3 more
1999American journal of medical genetics12 citations
Semantic Scholar
DNA deletion confined to the iduronate‐2‐sulfatase promoter abolishes IDS gene expression
Kirsten M. Timms, Louise E. Huckett, J. Belmont, S. K. Shapira +1 more
1998Human Mutation12 citations Open access
Semantic Scholar
TEMPORARY REMOVAL: State-specific prevalence of current e-cigarette use by disability status and disability type—United States, BRFSS 2016–2018
Qing C. Zhang, Elizabeth A. Courtney-Long, L. Sinclair, Sierra Reese +2 more
2021Disability and Health Journal11 citations Open access
Semantic Scholar
Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring.
S. K. Shapira, A. Orr-Urtreger, Sarantis Gagos, L. G. Shaffer
1997American journal of medical genetics10 citations
Semantic Scholar
Prevalence of developmental disabilities and receipt of special education services among children with an inborn error of metabolism.
K. Powell, K. Van Naarden Braun, Rani H. Singh, S. K. Shapira +2 more
2010Jornal de Pediatria8 citations
Semantic Scholar

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