Focus 01 June 2020

Focus on Gastrointestinal Diseases

Genetics in Medicine has published numerous articles of interest to clinicians working in gastrointestinal diseases. The editors have compiled the most pertinent articles to highlight a few that will be most useful for busy practitioners and researchers in Gastrointestinal Diseases.

Relevant subject areas include but are not limited to colorectal cancer, hemochromatosis, cystic fibrosis, and celiac disease, among many others.

Content

Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)
- ACMG Board of Directors
ACMG Statement28 Jun 2021 Genetics in Medicine
Treatment of ARS deficiencies with specific amino acids
- Gautam Kok
- Laura Tseng
- Sabine A. Fuchs
Brief Communication30 Jun 2021 Genetics in Medicine
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
- Mehdi Benkirane
- Cecilia Marelli
- Michel Koenig
Article7 Jul 2021 Genetics in Medicine
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
- Maria Iqbal
- Reza Maroofian
- Gökhan Yigit
ArticleOpen Access9 Jul 2021 Genetics in Medicine
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
- Jérémie Courraud
- Eric Chater-Diehl
- Amélie Piton
Article3 Aug 2021 Genetics in Medicine
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly
- Jennifer Morrison
- Norah K. Altuwaijri
- Thomas Arnesen
Brief CommunicationOpen Access6 Jul 2021 Genetics in Medicine
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
- ACMG Laboratory Quality Assurance Committee
ACMG Technical Standard17 Jun 2021 Genetics in Medicine
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
- Dong Li
- Alanna Strong
- Elizabeth Bhoj
Article27 Nov 2020 Genetics in Medicine
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
- Ramakrishnan Rajagopalan
- Melissa A. Gilbert
- Nancy B. Spinner
ArticleOpen Access20 Oct 2020 Genetics in Medicine
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
- Dominic Lenz
- Desirée E. C. Smith
- Christian Staufner
Article23 Jul 2020 Genetics in Medicine
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
- Robert Blatter
- Benjamin Tschupp
- Karl Heinimann
ArticleOpen Access13 May 2020 Genetics in Medicine
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
- Christian Staufner
- Bianca Peters
- Dominic Lenz
Article25 Nov 2019 Genetics in Medicine
Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review
- Sharon J. M. Kessels
- Drew Carter
- Tracy L. Merlin
Systematic Review30 Aug 2019 Genetics in Medicine
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring
- Carine A. Halaby
- Sarah P. Young
- Priya S. Kishnani
Article2 Jul 2019 Genetics in Medicine
Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China
- Ziqing Ye
- Ying Huang
- Jin Wang
Article21 Mar 2019 Genetics in Medicine
SERPINA1 Z allele is associated with cystic fibrosis liver disease
- Pierre-Yves Boëlle
- Dominique Debray
- on behalf of the French CF Modifier Gene Study Investigators
Brief Communication11 Feb 2019 Genetics in Medicine
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
- Whitney L. Wooderchak-Donahue
- Gulsen Akay
- Jamie McDonald
Article14 Feb 2019 Genetics in Medicine
A framework to build capacity for a reflex-testing program for Lynch syndrome
- Vanessa N. Palter
- Natalie A. Baker
- Nancy N. Baxter
Article22 Oct 2018 Genetics in Medicine
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants
- Sateesh Maddirevula
- Hamoud Alhebbi
- Fowzan S. Alkuraya
Article25 Sep 2018 Genetics in Medicine
The global prevalence of Wilson disease from next-generation sequencing data
- Jiali Gao
- Simon Brackley
- Jake P. Mann
Article26 Sep 2018 Genetics in Medicine
Do RET somatic mutations play a role in Hirschsprung disease?
- Erwin Brosens
- Katherine C MacKenzie
- Robert M W Hofstra
Correspondence1 Mar 2018 Genetics in Medicine
A counseling framework for moderate-penetrance colorectal cancer susceptibility genes
- Bryson W Katona
- Matthew B Yurgelun
- Zsofia K Stadler
Comment1 Mar 2018 Genetics in Medicine
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer
- Maegan E Roberts
- Sarah A Jackson
- Wendy K Chung
ArticleOpen Access18 Jan 2018 Genetics in Medicine
Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations
- Marco Di Marco
- Elvira DAndrea
- Paolo Villari
Systematic ReviewOpen Access4 Jan 2018 Genetics in Medicine
Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?
- Anne-Marie Laberge
Invited Commentary19 Oct 2017 Genetics in Medicine
RET somatic mutations are underrecognized in Hirschsprung disease
- Qian Jiang
- Fang Liu
- Long Li
Article26 Oct 2017 Genetics in Medicine
Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1
- Daniel D Buchanan
- Jenna R Stewart
- Aung Ko Win
Brief Communication9 Nov 2017 Genetics in Medicine
Family history and the natural history of colorectal cancer: systematic review
- Nora B. Henrikson
- Elizabeth M. Webber
- Evelyn P. Whitlock
Systematic Review15 Jan 2015 Genetics in Medicine
Is it all Lynch syndrome?: An assessment of family history in individuals with mismatch repair–deficient tumors
- Katherine M. Dempsey
- Russell Broaddus
- Karen Lu
Original Research Article23 Oct 2014 Genetics in Medicine
Modeling the prevention of colorectal cancer from the combined impact of host and behavioral risk factors
- Matthew Frampton
- Richard S. Houlston
Original Research ArticleOpen Access4 Aug 2016 Genetics in Medicine
PMS2 monoallelic mutation carriers: the known unknown
- McKinsey L. Goodenberger
- Brittany C. Thomas
- Noralane M. Lindor
Review9 Apr 2015 Genetics in Medicine
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
- Fernando Bellido
- Marta Pineda
- Laura Valle
Original Research ArticleOpen Access2 Jul 2015 Genetics in Medicine
Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing
- Jennifer A. Inra
- Ewout W. Steyerberg
- Fay Kastrinos
Original Research Article15 Jan 2015 Genetics in Medicine
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
- Manon Suerink
- Heleen M. van der Klift
- Maartje Nielsen
Brief Report25 Jun 2015 Genetics in Medicine
Universal tumor screening for Lynch syndrome: health-care providers’ perspectives
- Yvonne Bombard
- Linda Rozmovits
- Nancy N. Baxter
Original Research Article6 Oct 2016 Genetics in Medicine
Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system
- Ana Torroglosa
- María Valle Enguix-Riego
- Salud Borrego
Original Research Article27 Feb 2014 Genetics in Medicine
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study
- Mei W. Baker
- Anne E. Atkins
- Philip M. Farrell
Original Research Article12 Feb 2015 Genetics in Medicine
How genetic testing can lead to targeted management of XIAP deficiency–related inflammatory bowel disease
- Ole Haagen Nielsen
- Eric Charles LaCasse
Review14 Jul 2016 Genetics in Medicine
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data
- Daniel F. Wallace
- V. Nathan Subramaniam
Original Research Article3 Dec 2015 Genetics in Medicine

Focus on Gastrointestinal Diseases

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