ACMG TECHNICAL STANDARDS,
Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC) Fady M. Mikhail, Jaclyn A. Biegel, Linda D. Cooley, Adrian M. Dubuc, Betsy Hirsch et al. Genetics in Medicine 2019 21 :1903 - 1915; May 29, 2019; 10.1038/s41436-019-0545-7 Abstract | Full Text
IN THIS ISSUE
In This Issue Roni Dengler Genetics in Medicine 2019 21 :1901 - 1901; September 04, 2019; 10.1038/s41436-019-0632-9 Abstract | Full Text
NEWS
News Roni Dengler Genetics in Medicine 2019 21 :1902 - 1902; September 04, 2019; 10.1038/s41436-019-0631-x Abstract | Full Text
INVITED REVIEW
The transformation of medical genetics by clinical genomics: hubris meets humility Wayne W. Grody Genetics in Medicine 2019 21 :1916 - 1926; March 07, 2019; 10.1038/s41436-019-0450-0 Abstract | Full Text
INVITED COMMENT
Commentary: Expanded carrier screening: how much is too much? Ronald J. Wapner & Joseph R. Biggio Jr. Genetics in Medicine 2019 21 :1927 - 1930; April 11, 2019; 10.1038/s41436-019-0514-1 Abstract | Full Text
ARTICLE
A data-driven evaluation of the size and content of expanded carrier screening panels Rotem Ben-Shachar, Ashley Svenson, James D. Goldberg & Dale Muzzey Genetics in Medicine 2019 21 :1931 - 1939; February 28, 2019; 10.1038/s41436-019-0466-5 Abstract | Full Text
Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels Michael H. Guo & Anthony R. Gregg Genetics in Medicine 2019 21 :1940 - 1947; March 08, 2019; 10.1038/s41436-019-0472-7 Abstract | Full Text
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen Kyle A. Beauchamp, Katherine A. Johansen Taber & Dale Muzzey Genetics in Medicine 2019 21 :1948 - 1957; February 14, 2019; 10.1038/s41436-019-0455-8 Abstract | Full Text
Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis Lei Zhang, Yining Bao, Moeen Riaz, Jane Tiller, Danny Liew et al. Genetics in Medicine 2019 21 :1958 - 1968; February 18, 2019; 10.1038/s41436-019-0457-6 Abstract | Full Text
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools Eva Vasiljevic, Zhan Ye, Derek M. Pavelec, Burcu F. Darst, Corinne D. Engelman et al. Genetics in Medicine 2019 21 :1969 - 1976; March 08, 2019; 10.1038/s41436-019-0468-3 Abstract | Full Text
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders Lindsay C. Burrage, Lillian Thistlethwaite, Bridget M. Stroup, Qin Sun, Marcus J. Miller et al. Genetics in Medicine 2019 21 :1977 - 1986; January 23, 2019; 10.1038/s41436-019-0442-0 Abstract | Full Text
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study Dominique P. Germain, Kathy Nicholls, Roberto Giugliani, Daniel G. Bichet, Derralynn A. Hughes et al. Genetics in Medicine 2019 21 :1987 - 1997; February 06, 2019; 10.1038/s41436-019-0451-z Abstract | Full Text
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes Desheng Liang, David S. Cram, Hu Tan, Siyuan Linpeng, Yingdi Liu et al. Genetics in Medicine 2019 21 :1998 - 2006; March 04, 2019; 10.1038/s41436-019-0467-4 Abstract | Full Text
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? Whitney L. Wooderchak-Donahue, Gulsen Akay, Kevin Whitehead, Eric Briggs, David A. Stevenson et al. Genetics in Medicine 2019 21 :2007 - 2014; February 14, 2019; 10.1038/s41436-019-0443-z Abstract | Full Text
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD) Pauline Arnaud, Nadine Hanna, Louise Benarroch, Mélodie Aubart, Laurence Bal et al. Genetics in Medicine 2019 21 :2015 - 2024; February 11, 2019; 10.1038/s41436-019-0444-y Abstract | Full Text
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné et al. Genetics in Medicine 2019 21 :2025 - 2035; February 06, 2019; 10.1038/s41436-019-0445-x Abstract | Full Text
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature Erin Torti, Boris Keren, Elizabeth E. Palmer, Zehua Zhu, Alexandra Afenjar et al. Genetics in Medicine 2019 21 :2036 - 2042; February 11, 2019; 10.1038/s41436-019-0454-9 Abstract | Full Text
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly Paranchai Boonsawat, Pascal Joset, Katharina Steindl, Beatrice Oneda, Laura Gogoll et al. Genetics in Medicine 2019 21 :2043 - 2058; March 07, 2019; 10.1038/s41436-019-0464-7 Abstract | Full Text
De novo and biallelic DEAF1 variants cause a phenotypic spectrum Maria J. Nabais Sá, Philip J. Jensik, Stacey R. McGee, Michael J. Parker, Nayana Lahiri et al. Genetics in Medicine 2019 21 :2059 - 2069; March 29, 2019; 10.1038/s41436-019-0473-6 Abstract | Full Text
Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders Ravi Savarirayan, Viviana Bompadre, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg et al. Genetics in Medicine 2019 21 :2070 - 2080; January 30, 2019; 10.1038/s41436-019-0446-9 Abstract | Full Text
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility Neeti Ghali, Duncan Baker, Angela F. Brady, Nigel Burrows, Elena Cervi et al. Genetics in Medicine 2019 21 :2081 - 2091; March 06, 2019; 10.1038/s41436-019-0470-9 Abstract | Full Text
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat Nathaniel J. Hafford-Tear, Yu-Chih Tsai, Amanda N. Sadan, Beatriz Sanchez-Pintado, Christina Zarouchlioti et al. Genetics in Medicine 2019 21 :2092 - 2102; February 08, 2019; 10.1038/s41436-019-0453-x Abstract | Full Text
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder Lloyd B. Williams, Asif Javed, Amin Sabri, Denise J. Morgan, Chad D. Huff et al. Genetics in Medicine 2019 21 :2103 - 2115; April 10, 2019; 10.1038/s41436-019-0476-3 Abstract | Full Text
Toward automation of germline variant curation in clinical cancer genetics Vignesh Ravichandran, Zarina Shameer, Yelena Kemel, Michael Walsh, Karen Cadoo et al. Genetics in Medicine 2019 21 :2116 - 2125; February 21, 2019; 10.1038/s41436-019-0463-8 Abstract | Full Text
Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis Qigang Li, Keyan Zhao, Carlos D. Bustamante, Xin Ma & Wing H. Wong Genetics in Medicine 2019 21 :2126 - 2134; January 24, 2019; 10.1038/s41436-019-0439-8 Abstract | Full Text
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel Theodore Chiang, Xiuping Liu, Tsung-Jung Wu, Jianhong Hu, Fritz J. Sedlazeck et al. Genetics in Medicine 2019 21 :2135 - 2144; March 20, 2019; 10.1038/s41436-019-0475-4 Abstract | Full Text
BRIEF COMMUNICATION
Impact of NUDT15 genetics on severe thiopurine-related hematotoxicity in patients with European ancestry Elke Schaeffeler, Simon U. Jaeger, Verena Klumpp, Jun J. Yang, Svitlana Igel et al. Genetics in Medicine 2019 21 :2145 - 2150; February 07, 2019; 10.1038/s41436-019-0448-7 Abstract | Full Text
SERPINA1 Z allele is associated with cystic fibrosis liver disease Pierre-Yves Boëlle, Dominique Debray, Loic Guillot & Harriet Corvol Genetics in Medicine 2019 21 :2151 - 2155; February 11, 2019; 10.1038/s41436-019-0449-6 Abstract | Full Text
CORRESPONDENCE
Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2 Xia Wang, Jennifer P. Brzosowicz & Jong Y. Park Genetics in Medicine 2019 21 :2156 - 2157; February 28, 2019; 10.1038/s41436-019-0471-8 Abstract | Full Text
Response to Wang et al. Maegan E. Roberts, Nur Zeinomar, Benjamin D. Solomon, Mary Beth Terry & Wendy K. Chung Genetics in Medicine 2019 21 :2158 - 2158; March 01, 2019; 10.1038/s41436-019-0469-2 Abstract | Full Text
CORRECTION
Correction: Putting genome-wide sequencing in neonates into perspective Pleuntje J. van der Sluijs, Emmelien Aten, Daniela Q. C. M. Barge-Schaapveld, Emilia K. Bijlsma, Regina Bökenkamp-Gramann et al. Genetics in Medicine 2018 21 :2159 - 2164; November 21, 2018; 10.1038/s41436-018-0363-3 Abstract | Full Text
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay Bettina E. Mucha, Siddharth Banka, Norbert Fonya Ajeawung, Sirinart Molidperee, Gary G. Chen et al. Genetics in Medicine 2019 21 :2159 - 2160; January 14, 2019; 10.1038/s41436-018-0413-x Abstract | Full Text
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Vergano, Miho Adachi-Fukuda, Yasemin Alanay et al. Genetics in Medicine 2019 21 :2160 - 2161; January 29, 2019; 10.1038/s41436-018-0368-y Abstract | Full Text
Correction: Estimating the burden and economic impact of pediatric genetic disease Nina Gonzaludo, John W. Belmont, Vladimir G. Gainullin & Ryan J. Taft Genetics in Medicine 2019 21 :2161 - 2161; February 14, 2019; 10.1038/s41436-019-0458-5 Abstract | Full Text
Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort Qingping Zhang, Xiaoxu Yang, Jiaping Wang, Jiarui Li, Qixi Wu et al. Genetics in Medicine 2019 21 :2162 - 2162; February 20, 2019; 10.1038/s41436-019-0461-x Abstract | Full Text
Correction: Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis Lei Zhang, Yining Bao, Moeen Riaz, Jane Tiller, Danny Liew et al. Genetics in Medicine 2019 21 :2162 - 2163; April 04, 2019; 10.1038/s41436-019-0515-0 Abstract | Full Text
Correction: Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China Ziqing Ye, Ying Huang, Cuifang Zheng, Yuhuan Wang, Junping Lu et al. Genetics in Medicine 2019 21 :2163 - 2163; April 04, 2019; 10.1038/s41436-019-0513-2 Abstract | Full Text
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease V. Boczonadi, M. S. King, A. C. Smith, M. Olahova, B. Bansagi et al. Genetics in Medicine 2019 21 :2163 - 2164; April 26, 2019; 10.1038/s41436-019-0506-1 Abstract | Full Text
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