Table of Contents page: Genetics in Medicine

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In this Issue

Published in issue: May 2015

p321

News Briefs

Published in issue: May 2015

p321-322

Fabry disease in infancy and early childhood: a systematic literature review

Dawn A. Laney,
Dawn S. Peck,
Andrea M. Atherton,
...
Dorothy K. Grange,
William R. Wilcox,
Robert J. Hopkin

Published in issue: May 2015

p323-330

Naked bodies, naked genomes: the special (but not exceptional) nature of genomic information

Daniel P. Sulmasy

Published in issue: May 2015

p331-336

Original Research Article

Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing

Arindam Bhattacharjee,
Tanya Sokolsky,
Stacia K. Wyman,
...
Holmes Morton,
Richard B. Parad,
Edwin W. Naylor

Published in issue: May 2015

p337-347

Novel copy-number variants in a population-based investigation of classic heterotaxy

Shannon L. Rigler,
Denise M. Kay,
Robert J. Sicko,
...
Paul A. Romitti,
Lawrence C. Brody,
James L. Mills

Published in issue: May 2015

p348-357

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers

Sarah L. Nolin,
Anne Glicksman,
Nicole Ersalesi,
...
Sachin Sah,
Gary J. Latham,
Andrew G. Hadd

Published in issue: May 2015

p358-364

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy

Nicola Longo,
Komudi Siriwardena,
Annette Feigenbaum,
...
Elaina Jurecki,
Charlie Zhang,
Suyash Prasad

Published in issue: May 2015

p365-373

Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change

Sarah M. Hartz,
Emily Olfson,
Robert Culverhouse,
...
Stephanie Solomon,
Nancy L. Saccone,
Laura J. Bierut

Published in issue: May 2015

p374-379

Carrier testing in children: exploration of genetic health professionals’ practices in Australia

Danya F. Vears,
Clare Delany,
Lynn Gillam

Published in issue: May 2015

p380-385

Surveying the current landscape of clinical genetics residency training

Caleb P. Bupp,
Laurie A. Demmer,
Robert A. Saul

Published in issue: May 2015

p386-390

Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations

Ilaria Gandin,
Flavio Faletra,
Francesca Faletra,
...
Chiara Belcaro,
Diego Vozzi,
Adamo P. d’Adamo

Published in issue: May 2015

p391-395

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Ilaria Gandin,
Flavio Faletra,
Francesca Faletra,
...
Chiara Belcaro,
Diego Vozzi,
Adamo P. d’Adamo

Published in issue: May 2015

p396-399

Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families

Fernanda Delgado,
Holly K. Tabor,
Penny M. Chow,
...
Kenneth W. Feldman,
Karen D. Tsuchiya,
Anita E. Beck

Published in issue: May 2015

p400-404

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards,
Nazneen Aziz,
Sherri Bale,
...
Karl Voelkerding,
Heidi L. Rehm
on behalf of the ACMG Laboratory Quality Assurance Committee

Published in issue: May 2015

p405-424

Peripatetic southern cytogenetics

Patricia N. Howard-Peebles

Published in issue: May 2015

p425-426

Erratum: Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder

Published in issue: May 2015

p427

May 2015

In This Issue

In this Issue

News Briefs

News Briefs

Systematic Review

Fabry disease in infancy and early childhood: a systematic literature review

Review

Naked bodies, naked genomes: the special (but not exceptional) nature of genomic information

Original Research Article

Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing

Novel copy-number variants in a population-based investigation of classic heterotaxy

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy

Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change

Carrier testing in children: exploration of genetic health professionals’ practices in Australia

Education Report

Surveying the current landscape of clinical genetics residency training

Brief Report

Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Single-nucleotide polymorphism arrays and unexpected consanguinity: considerations for clinicians when returning results to families

ACMG Standards and Guidelines

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Genetic Legacy

Peripatetic southern cytogenetics

Erratum

Erratum: Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder