Volume 23 Issue 10, October 2021

News

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

• Anthony R. Gregg
• Mahmoud Aarabi
• Jeffrey S. Dungan

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

• Rong Mao
• Patti Krautscheid
• Madhuri Hegde

Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

• Lina Shao
• Yassmine Akkari
• Fady M. Mikhail

One is the loneliest number: genotypic matchmaking using the electronic health record

• Elly Brokamp
• Mary E. Koziura
• Jimann Shin

Cost or price of sequencing? Implications for economic evaluations in genomic medicine

• Scott D. Grosse
• James M. Gudgeon

Ask me later: deciding to have clinical exome trio sequencing for my critically ill child

• Jill Oliver Robinson

Neptune: an environment for the delivery of genomic medicine

• Venner Eric
• Victoria Yi
• Hana Zouk

Genome-wide cell-free DNA screening: a focus on copy-number variants

• Jill Rafalko
• Erica Soster
• Philip Cacheris

Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care

• Samuel A. Crawford
• Cynthia L. Gong
• Joel W. Hay

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model

• Mark D. Levin
• Simona Bianconi
• Fady Hannah-Shmouni

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

• Camille Tremblay-Laganière
• Reza Maroofian
• Yoshiko Murakami

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

• Catherine E. Cottrell
• Nicole R. Bender
• Beth A. Drolet

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

• Thomas A. Ravenscroft
• Jennifer B. Phillips
• Hugo J. Bellen

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

• Quentin Thomas
• Thierry Gautier
• Antonio Vitobello

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

• Halie J. May
• Jaehoon Jeong
• Kwame Anyane-Yeboa

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

• Lance H. Rodan
• Rebecca C. Spillmann
• Vandana Shashi

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

• Sheng-Jia Lin
• Barbara Vona
• Gaurav K. Varshney

Upregulation of GBP1 in thyroid primordium is required for developmental thyroid morphogenesis

• Rui-Meng Yang
• Ming Zhan
• Huai-Dong Song

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

• Doris Škorić-Milosavljević
• Najim Lahrouchi
• Connie R. Bezzina

The genetic architecture of Plakophilin 2 cardiomyopathy

• Annika M. Dries
• Anna Kirillova
• Victoria N. Parikh

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer

• Emma R. Woodward
• Elke M. van Veen
• D. Gareth Evans

Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance

• Lauren N. Galbraith
• Charlene L. Preys
• Kurt D. Christensen

InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors

• Boyoung Yoo
• Johannes Birgmeier
• Gill Bejerano

A framework for automated gene selection in genomic applications

• L. Lazo de la Vega
• W. Yu
• M. S. Lebo

GenomeDiver: a platform for phenotype-guided medical genomic diagnosis

• Nathaniel M. Pearson
• Christian Stolte
• John M. Greally

Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al.

• Florence Riccardi
• Alexandre Astier
• Svetlana Gorokhova

Response to Riccardi et al.

• A. P. M. de Brouwer

Correspondence on “Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)” by Ferreira et al.

• Rachel Stern
• Daniel S. Levi
• Isidro B. Salusky

Response to Stern et al.

• Shira G. Ziegler
• Carlos R. Ferreira

Correspondence on “Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation” by Thompson et al.

• Carmen Suay-Corredera
• Jorge Alegre-Cebollada

Response to Suay-Corredera et al.

• Andrea D. Thompson
• Sharlene M. Day

Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

• Doris Škorić-Milosavljević
• Najim Lahrouchi
• Connie R. Bezzina

Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy

• Annika M. Dries
• Anna Kirillova
• Victoria N. Parikh

Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

• Anthony R. Gregg
• Mahmoud Aarabi
• Jeffrey S. Dungan

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

• Lance H. Rodan
• Rebecca C. Spillmann
• Vandana Shashi

Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

• Christie P. Thomas
• Margaret E. Freese
• Richard J. Smith

Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network

• Kenneth D. Levy
• Kathryn Blake
• Geoffrey S. Ginsburg

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

• Thomas Roux
• Mathieu Barbier
• Nicholas Wood

Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

• Krinio Giannikou
• Kathryn D. Lasseter
• David J. Kwiatkowski

Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

• Eva Lenassi
• Jill Clayton-Smith
• Panagiotis I. Sergouniotis

Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

• Sabine A. Fuchs
• Imre F. Schene
• Peter M. van Hasselt