Heather Stalker

Next-Generation Sequencing for Cystic Fibrosis: Florida Newborn Screening Experience

Deanna Green, J. Polasky, Mark Weatherly, Heather Stalker et autres

Cystic fibrosis (CF) is an autosomal recessive genetic condition affecting nearly 1 in 4000 newborns. Early diagnosis and treatment have been shown to improve the care of individuals with CF, which is enhanced through newborn screening (NBS). The state of Florida has …

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Reconciling competencies in undergraduate medical genetics education: APHMG versus PCME competencies

Rachel D. Burnside, Megan Boothe, David H. Ledbetter, Heather Stalker et autres

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P473: Reconciling medical genetics educational competencies and closing gaps in undergraduate medical education*

Rachel D. Burnside, Petr Starostik, Megan Boothe, Heather Stalker et autres

As genetic testing becomes more decentralized in healthcare, there is an increasing need in undergraduate medical education to incorporate genetics and genomics into multiple areas of the curriculum, not only as a standalone course. The Association of Professors of Human and Medical …

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Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

Sarah E. Grams, Bob Argiropoulos, Matthew A. Lines, Pranesh Chakraborty et autres

We report 13 new individuals with duplications in Xp11.22-p11.23. The index family has one male and two female members in three generations with mild-severe intellectual disability (ID), speech delay, dysmorphic features, early puberty, constipation, and/or hand and foot abnormalities. Affected individuals were …

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Corrigendum: A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld et autres

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A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld et autres

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Reply to Unger: The mildest form of campomelic dysplasia

Heather Stalker, Roberto Zori, Margaret R. Wallace, Kate Hill‐Harfe et autres

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Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders

Kory Keller, Charles A. Williams, Paul W. Wharton, Martha F. Paulk et autres

To assess the frequency of cytogenetic abnormalities in children with autism spectrum disorders (ASDs), routine G-banded cytogenetic analyses and FISH studies to rule out 15q11.2 and 17p11.2 duplications were performed on 49 children with ASDs. Blood samples were further studied using a …

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Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene

Zsolt Urb�n, Elaine C. Davis, Gregg Maeda, Anil Kumar et autres

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Angelman syndrome

Charles A. Williams, Roberto T. Zori, Heather Stalker, Tiffany Marum et autres

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Anemia as a Criterion for Evaluation of a Special Supplemental Food Program for Women, Infants, and Children

Philip G. Weiler, Heather Stalker, Stephen W. Jennings, Walter T. Fister

The background and rationale of the Special Supplemental Food Program for Women, Infants, and Children (WIC) are reviewed. Problems concerning the implementation of the program and the need for evaluation are discussed. The authors selected anemia as a WIC program criterion to …

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REJECTION OF PSYCHIATRICALLY UNFIT RECRUITS

Heather Stalker