Volume 22 Issue 12, December 2020

Pisces (cotton fabric, 19.5″ × 19.5″). One of twelve quilts depicting the constellations and their stories. In Greek mythology, Aphrodite and Eros escaped the sea monster Typhon by transforming into fish, each holding a cord in their mouth to prevent their separation. Pisces is a water sign, with sea-green its color and moonstone its gem. More of the artist’s work can be seen at http://quiltartisannharwell.com/.

Pisces | Ann Harwell

In this Issue

In This Issue

In This Issue 18 Nov 2020

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News

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News 18 Nov 2020

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Systematic Review

Application of exome sequencing for prenatal diagnosis: a rapid scoping review

Misty Pratt
Chantelle Garritty
Christine M. Armour

Focus:

Focus on Obstetrics and Gynecology
Systematic Review 04 Aug 2020

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Review Article

Alaska Native genomic research: perspectives from Alaska Native leaders, federal staff, and biomedical researchers

Vanessa Y. Hiratsuka
Michael J. Hahn
Hina Walajahi

Collections:

Ethical, Legal, and Social Issues

Focus on Public Health
Review Article Open Access 25 Aug 2020

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Article

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

Nicola Jane Flowers
Trent Burgess
Mark Domenic Pertile

Focus:

Focus on Obstetrics and Gynecology
Article 18 Aug 2020
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

Csilla Krausz
Antoni Riera-Escamilla
Frank Tüttelmann

Focus:

Focus on Obstetrics and Gynecology
Article 03 Aug 2020
A genomics approach to male infertility

Naif Alhathal
Sateesh Maddirevula
Fowzan S. Alkuraya

Focus:

Focus on Obstetrics and Gynecology
Article 28 Jul 2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Gemma R. Brett
Melissa Martyn
Zornitza Stark

Collections:

Focus on Pediatrics

Focus on Public Health
Article 28 Jul 2020
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Alison Yeung
Natalie B. Tan
Susan M. White

Collections:

Focus on Pediatrics

Focus on Public Health
Article 10 Aug 2020
Patient reactions to receiving negative genomic screening results by mail

Kelsey Stuttgen
Joel Pacyna
Richard R. Sharp

Collections:

Ethical, Legal, and Social Issues

Focus on Public Health
Article 16 Jul 2020
Airmen and health-care providers’ attitudes toward the use of genomic sequencing in the US Air Force: findings from the MilSeq Project

Stacey Pereira
Rebecca L. Hsu
Amy L. McGuire

Collections:

Ethical, Legal, and Social Issues

Focus on Public Health
Article 18 Aug 2020
Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment

Shan Jiang
Aslam H. Anis
Dean A. Regier

Focus:

Focus on Public Health
Article 21 Aug 2020
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes

Lu Qiao
Julia Wynn
Wendy K. Chung

Focus:

Focus on Pediatrics
Article 28 Jul 2020
Genotype–phenotype correlations in recessive titinopathies

Marco Savarese
Anna Vihola
Bjarne Udd

Collections:

Focus on Vascular Surgery and Cardiology

Focus on Pediatrics
Article 11 Aug 2020
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Anjali Vig
James A. Poulter
Elise Heon

Focus:

Focus on Ophthalmology
Article Open Access 05 Aug 2020
Considerations in assessing germline variant pathogenicity using cosegregation analysis

Sophie Belman
Michael T. Parsons
Bing-Jian Feng

Focus:

Focus on Genomic Variant Interpretation
Article 10 Aug 2020
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

Shiva Ganesan
Peter D. Galer
Ingo Helbig

Focus:

Focus on Neurology
Article Open Access 10 Aug 2020
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort

Essa Alharby
Eissa A. Faqeih
Naif A. M. Almontashiri

Focus:

Focus on Neurology
Article 03 Aug 2020
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

Juan A. Perez-Valencia
Richard Gallon
Katharina Wimmer

Collections:

Focus on Neurology

Focus on Hematology/Oncology

Focus on Pediatrics
Article Open Access 10 Aug 2020
Role of POLE and POLD1 in familial cancer

Pilar Mur
Sandra García-Mulero
Laura Valle

Focus:

Focus on Hematology/Oncology
Article Open Access 14 Aug 2020
Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma–pheochromocytoma syndrome

Samantha E. Greenberg
Michelle F. Jacobs
Lauren Fishbein

Collections:

Focus on Hematology/Oncology

Focus on Public Health
Article 03 Aug 2020

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Brief Communication

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range

Hailey Findlay Black
Galen E. B. Wright
Michael R. Hayden

Focus:

Focus on Neurology
Brief Communication Open Access 03 Aug 2020
Assessing non-Mendelian inheritance in inherited axonopathies

Dana M. Bis-Brewer
Ziv Gan-Or
Stephan Züchner

Focus:

Focus on Neurology
Brief Communication 03 Aug 2020
Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic

Cherisse A. Marcou
Beth Pitel
Hutton M. Kearney
Brief Communication 21 Aug 2020

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Addendum

Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

Michael T. Bashford
Scott E. Hickey
Helga V. Toriello

Collection:

ACMG Statements and Guidelines
Addendum 12 Jun 2020
Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Melanie Manning
Louanne Hudgins

Collection:

ACMG Statements and Guidelines
Addendum 08 Jun 2020
Addendum: Statement on nutritional supplements and piracetam for children with Down syndrome

Manisha Balwani

Collection:

ACMG Statements and Guidelines
Addendum 08 Jun 2020
Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

Edward D. Esplin

Collection:

ACMG Statements and Guidelines
Addendum 06 Jul 2020

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Volume 22 Issue 12, December 2020

In this Issue

In This Issue

News

News

Systematic Review

Application of exome sequencing for prenatal diagnosis: a rapid scoping review

Review Article

Alaska Native genomic research: perspectives from Alaska Native leaders, federal staff, and biomedical researchers

Article

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

A genomics approach to male infertility

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Patient reactions to receiving negative genomic screening results by mail

Airmen and health-care providers’ attitudes toward the use of genomic sequencing in the US Air Force: findings from the MilSeq Project

Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes

Genotype–phenotype correlations in recessive titinopathies

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Considerations in assessing germline variant pathogenicity using cosegregation analysis

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

Role of POLE and POLD1 in familial cancer

Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma–pheochromocytoma syndrome

Brief Communication

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range

Assessing non-Mendelian inheritance in inherited axonopathies

Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic

Addendum

Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Addendum: Statement on nutritional supplements and piracetam for children with Down syndrome

Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

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