January 2023

Editorial Board
Published in issue: January 2023
A1

Masthead
Published in issue: January 2023
A2

Table of Contents
Published in issue: January 2023
A3-A6

Review

Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: A systematic review
• Courtney K. Wallingford,
• Hannah Kovilpillai,
• Chris Jacobs,
• ...
• H. Peter Soyer,
• Aideen M. McInerney-Leo,
• Tatiane Yanes
Published online: November 02, 2022
p1-11

Invited Commentary

Moving toward more consistency in variant classification and clinical action
• Karen L. David,
• Joshua L. Deignan
Published online: November 17, 2022
p12-15

Articles

Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria)
• Vineel Bhat,
• Ivan A. Adzhubei,
• James D. Fife,
• Matthew Lebo,
• Christopher A. Cassa
Published online: October 28, 2022
p16-26

Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease
• Yu-Kang Hsu,
• Yin-Hsiu Chien,
• Steven Shinn-Forng Peng,
• ...
• Ni-Chung Lee,
• Eric Po-Yu Huang,
• Wen-Chin Weng
Published online: November 17, 2022
p27-36
Open Access

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
• Lucy Loong,
• Agostina Tardivo,
• Alexej Knaus,
• ...
• Taroh Kinoshita,
• Allan Bayat,
• Usha Kini
Published online: November 02, 2022
p37-48

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
• Richard H. van Jaarsveld,
• Jack Reilly,
• Marie-Claire Cornips,
• ...
• Bekim Sadikovic,
• Mariëlle Alders,
• Renske Oegema
Published online: November 01, 2022
p49-62
Open Access

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
• Jet Coenen-van der Spek,
• Raissa Relator,
• Jennifer Kerkhof,
• ...
• Bekim Sadikovic,
• Tjitske Kleefstra,
• Kameryn M. Butler
Published online: November 17, 2022
p63-75

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
• Heba Morsy,
• Mehdi Benkirane,
• Elisa Cali,
• ...
• Jana Vandrovcova,
• Henry Houlden
• Genomics England Research Consortium
Published online: November 03, 2022
p76-89
Open Access

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
• Ken Saida,
• Reza Maroofian,
• Toru Sengoku,
• ...
• James R. Lupski,
• Henry Houlden,
• Naomichi Matsumoto
Published online: October 31, 2022
p90-102

Genetics professionals are key to the integration of genetic testing within the practice of frontline clinicians
• Maren T. Scheuner,
• Paloma Sales,
• Katherine Hoggatt,
• Ning Zhang,
• Mary A. Whooley,
• Michael J. Kelley
Published online: October 27, 2022
p103-114

“Extremely slow and capricious”: A qualitative exploration of genetic researcher priorities in selecting shared data resources
• M. Grace Trinidad,
• Kerry A. Ryan,
• Chris D. Krenz,
• ...
• Madison Kent,
• David Wilborn,
• Kayte Spector-Bagdady
Published online: November 13, 2022
p115-124

Brief Reports

Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
• Elise A. Ferreira,
• Annemarijne R.J. Veenvliet,
• Udo F.H. Engelke,
• ...
• Clara D.M. van Karnebeek,
• Richard J. Rodenburg,
• Karlien L.M. Coene
Published online: November 09, 2022
p125-134
Open Access

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
• Elisa Cali,
• Mohnish Suri,
• Marcello Scala,
• ...
• Fowzan S. Alkuraya,
• Henry Houlden,
• Reza Maroofian
Published online: November 17, 2022
p135-142
Open Access

Damaging variants in FOXI3 cause microtia and craniofacial microsomia
• Daniel Quiat,
• Andrew T. Timberlake,
• Justin J. Curran,
• ...
• Carrie L. Heike,
• Jonathan G. Seidman,
• Christine E. Seidman
Published online: October 19, 2022
p143-150
Open Access

Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome
• Cora M. Taylor,
• Brenda M. Finucane,
• Andres Moreno-De-Luca,
• Lauren K. Walsh,
• Christa Lese Martin,
• David H. Ledbetter
Published online: November 06, 2022
p151-154

Letters to the Editor

Correspondence on “The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review” by Freeman et al
• Jie Li,
• Xiaohong Sun
Published online: November 14, 2022
p155-156
Response to Li and Sun
• Lucinda Freeman,
• Martin B. Delatycki,
• Jackie Leach Scully,
• Edwin P. Kirk
Published online: November 14, 2022
p157
Correspondence on “Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population” by Savatt et al
• Lore van Riel,
• Philip R. Jansen,
• Bart G. Boerrigter,
• ...
• Rob M.F. Wolthuis,
• Irma van de Beek,
• Arjan C. Houweling
Published online: November 16, 2022
p158-160
Response to van Riel et al
• Juliann M. Savatt,
• Matthew T. Oetjens,
• Scott M. Myers,
• Brenda M. Finucane
Published online: November 16, 2022
p161-163

Corrections

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
Published in issue: January 2023
p164-165
The splicing effect of variants at branchpoint elements in cancer genes
• Daffodil M. Canson,
• Troy Dumenil,
• Michael T. Parsons,
• ...
• Tim R. Mercer,
• Dylan M. Glubb,
• Amanda B. Spurdle
Published in issue: January 2023
p166