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Genetics in Medicine (14)
Journal of Human Genetics (2)
Nature Genetics (1)
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Research (18)

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Showing 1–18 of 18 results

Advanced filters: Author: Michele Caggana Clear advanced filters

Population-based studies reveal differences in the allelic frequencies of two functionally significant human interleukin-4 receptor polymorphisms in several ethnic groups

Michele Caggana
Kimberly Walker
Anne C Walsh
Research01 Sept 1999
Genetics in Medicine

Volume: 1, P: 267-271
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David M S McHugh
Cynthia A Cameron
Wendy M Zakowicz
Research15 Feb 2011
Genetics in Medicine

Volume: 13, P: 230-254
Long-term follow-up of children with confirmed newborn screening disorders using record linkage

Ying Wang
Michele Caggana
Charlotte M Druschel
Research01 Jun 2011
Genetics in Medicine

Volume: 13, P: 881-886
Longitudinal analysis of passively and actively acquired SARS-CoV-2 antibodies in infants with repeat newborn screening samples

Amanda K. Damjanovic
Alexander Keyel
Linda M. Styer
ResearchOpen Access04 Jul 2025
Scientific Reports

Volume: 15, P: 1-13
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Simeon Boyadjiev and colleagues report a genome-wide association study of nonsyndromic sagittal craniosynostosis, the most common form of craniosynostosis. They identify risk loci near BMP2 on chromosome 20 and within BBS9 on chromosome 7.

Cristina M Justice
Garima Yagnik
Simeon A Boyadjiev
Research18 Nov 2012
Nature Genetics

Volume: 44, P: 1360-1364
Acute care utilization for inherited metabolic diseases among children identified through newborn screening in New York state

Ying Wang
Marilyn Sango-Jordan
Michele Caggana
Research13 Mar 2014
Genetics in Medicine

Volume: 16, P: 665-670
Mortality of New York children with sickle cell disease identified through newborn screening

Ying Wang
Gang Liu
Scott D. Grosse
Research25 Sept 2014
Genetics in Medicine

Volume: 17, P: 452-459
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

Melissa P. Wasserstein
Mary Andriola
Michele Caggana
Research12 May 2016
Genetics in Medicine

Volume: 18, P: 1235-1243
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

Jennifer N Kraszewski
Denise M Kay
Wendy K Chung
Research12 Oct 2017
Genetics in Medicine

Volume: 20, P: 608-613
Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity

Ying Wang
Joseph Kennedy
Scott D Grosse
Research27 Sept 2012
Genetics in Medicine

Volume: 15, P: 222-228
Characterization of β-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS

Dana C Crawford
Michele Caggana
Richard S Olney
Research01 Sept 2002
Genetics in Medicine

Volume: 4, P: 328-335
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

Denise M. Kay
Colleen F. Stevens
Michele Caggana
Research18 May 2020
Genetics in Medicine

Volume: 22, P: 1296-1302
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Melissa P. Wasserstein
Michele Caggana
Joseph J. Orsini
Research10 Aug 2018
Genetics in Medicine

Volume: 21, P: 631-640
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation

Tonia C Carter
Robert J Sicko
James L Mills
Research25 May 2017
Journal of Human Genetics

Volume: 62, P: 877-884
Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing

Bin Chen
Catherine D O'Connell
Daynna J Wolff
Research01 Oct 2005
Genetics in Medicine

Volume: 7, P: 534-549
Novel copy-number variants in a population-based investigation of classic heterotaxy

Shannon L. Rigler
Denise M. Kay
James L. Mills
Research18 Sept 2014
Genetics in Medicine

Volume: 17, P: 348-357
Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Joseph J. Orsini
Denise M. Kay
Michele Caggana
Research21 Jan 2016
Genetics in Medicine

Volume: 18, P: 239-248
Hirschsprung’s disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation

Tonia C Carter
Denise M Kay
James L Mills
Research31 May 2012
Journal of Human Genetics

Volume: 57, P: 485-493