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In January 2009, seven articles were published in the Journal that proposed a series of definitions that delineate individual descriptors for human malformations [Allanson et al., 2009a,b; Biesecker et al., 2009; Carey et al., 2009; Hall et al., 2009; Hennekam et al., 2009; Hunter et al., 2009]. This initial series of articles was followed by a supplementary article on ear morphology [Hunter, 2010]. These articles defined, illustrated, and discussed the descriptors used by clinicians to document human anomalies. The goal of this effort is to unify the language of clinical descriptions to maximize the utility of published clinical reports, case series, and databases that include phenotypic data. To that end, the American Journal of Medical Genetics Part A will now require that this terminology be used for all publications. The purpose of this Commentary is to inform the readership of how this will be accomplished. The new Journal policy will require that all manuscripts include approved terms, when they are available. Authors should familiarize themselves with the terminology when they are preparing to draft a manuscript for the Journal. This can be accomplished either by reviewing the published articles (http://onlinelibrary.wiley.com) or by using the Elements of Morphology web site: http://elementsofmorphology.nih.gov/index.cgi. This web site has been designed to link out from the home page to six pages that include a listing of the terms from each of the six original term definition articles, either via clicking on the anatomic region of the line drawing or via a listing of the regions (Fig. 1). From that page, readers can then link through to individual term pages (Fig. 2). Authors will need to review each use of a descriptive term to insure that their use of that term conforms to the approved definition. This is especially important for terms that have alternative objective and subjective definitions. Screen shot of the Elements of Morphology home page (http://elementsofmorphology.nih.gov/index.cgi). On the left is a hypertext list of the six original terminology articles [Allanson et al., 2009b; Biesecker et al., 2009; Carey et al., 2009; Hall et al., 2009; Hennekam et al., 2009; Hunter et al., 2009] and a final link with the references cited within those articles. In the middle of the page is some general background on the project, which is supplemented by the original introductory article [Allanson et al., 2009a]. On the right is an icon that highlights regions of the body that are included in the morphology. By clicking on these links, the user can be taken to the relevant group of terms. A typical definition from Elements of Morphology. This example shows two alternative objective and one subjective definition for the finding of Widely spaced eyes [Hall et al., 2009]. Note that the two distinct objective definitions are based upon alternative normative data sets and the subjective definition can be used if objective data are not available. The comments refer the reader to the source of the objective data [Hall et al., 2007]. The entry also lists the synonym of “hypertelorism,” which is an allowed, but not preferred, term. Note that the references to figure numbers within this call out box refer to the numbering from the original article. Finally, the web version of the definitions allows users to enter comments, which are curated, and then displayed if appropriate. To facilitate compliance with this policy, we will require that authors indicate the use of every approved term by bolding the text of that term within the article. It will be important for authors to carefully review their manuscripts to insure that they are not using a nonstandard, alternative descriptor for an approved term. The Journal will require the use of the preferred term (see example, Fig. 2). For patient findings that are not included in any of the now seven terminology articles, they should appear in the article as plain font. The Journal plans on converting the approved terms to hypertext links that connect to the terminology web site. This bolding of approved terms should occur in all parts of the article: abstract, introduction, clinical reports, results, discussion, tables, and figures. We appreciate that this is a significant change in editorial policy and that it will take some time for authors to adjust to this new requirement. Undoubtedly, the implementation of this policy will necessitate additional revision cycles for some manuscripts, and we thank authors in advance for their patience with this process. Finally, the co-chairs of the International Terminology Working Group [Allanson et al., 2009a] and the Editors of the American Journal of Medical Genetics Part A welcome feedback from authors, reviewers, and readers to improve and refine this process. The Elements of Morphology web page allows anyone to provide comments on the terms and definitions directly on the web page. Our goal is to collate these comments and modify the definitions when appropriate. We are eager to improve these processes and policies and to advance our overarching aim which is to improve our understanding of the mechanisms of morphogenesis to improve the diagnosis and clinical care of patients with malformations.

All areas of medicine are in a continuous state of evolution. The field of genetics and genomics, which is fundamental to so many other areas, is an extreme instance of this. That is, the manner and ways in which the field has evolved continues to be surprising and dramatic (Slavotinek & Solomon, 2020; Williams, 2019). Subjectively, we would suggest that this makes the field particularly attractive to many of us—the constantly changing nature of genetics and genomics can be very humbling, but it makes for dynamic and exciting new challenges. To put it plainly, things should never be boring! Of the many ways in which the field has changed, one particular example involves where certain aspects of genetics and genomics take place (Stark et al., 2019). Once largely isolated to academic centers, the generation and clinically oriented analysis of genomic data now occurs at very large scale in many other locales. (By “genomic data” we refer broadly to DNA sequencing, other “omics”, clinical data, and more—all the information that helps us understand these patients and genetic conditions.) These other locales include diagnostic laboratories, device manufacturers, pharmaceutical companies, and other biotechnology entities. These entities do not simply generate and analyze data—they often develop new, cutting-edge methods that move the field of clinical genetics forward (Gomez, Bird, Fleischer, & Abdul-Rahman, 2020). These efforts, which may involve collaborations with clinicians and other experts, are often aided by the scale of the data involved (Al-Dewik et al., 2019). That is, statistically significant and clinically important observations may be made because of the numbers of patients and the amount of data accrued. Related to this, being able to handle these genomic data accurately and efficiently at scale often leads to ingenious approaches. Finally, and due to their day-to-day roles and responsibilities, these types of companies may have useful and pragmatic tips about evidence-based best practices that can be useful to medical geneticists (Bale & Mitchell, 2009). We recognize that the objectives of such groups are often different than for those in academic or clinical settings. There may also be logistical and regulatory differences involved. For example, issues like data sharing and intellectual property rules understandably have different nuances for a hospital-based research institute versus a commercial entity. This is not at all a value proposition, but can mean that important information generated in these nonacademic, nongovernment research-based entities may sometimes be less available to the larger clinical genetics community. To help encourage and enable the dissemination of clinically important information, we announce a new venue for work generated in these biotechnology venues. This new manuscript type, entitled “Dispatches from Biotech,” is designed to ensure that there is a peer-reviewed platform for many types of entities to rapidly share information that would be valuable to those in the genetics and genomics community. The general article format will follow our existing journal guidelines, but we encourage diverse contributions that impart novel and valuable information to the readership. Examples could include: diagnostic rates seen in substantial cohorts of patients with a certain phenotype or clinical condition; relevant clinical observations that are supported by large patient volumes; novel approaches and methods to diagnose, treat, connect, and support patients with known or suspected genetic conditions as well as the clinicians who help manage these patients. We would support succinct as well as longer manuscripts; we continue to encourage collaborations across different groups (Carey et al., 2016). As with all manuscripts, we will ensure a rigorous peer-review process. We look forward to working with our authors and readers on such submissions to ensure that important findings can be leveraged by the medical genetics and genomics community. The authors are the Co-Editors-in-Chief of the American Journal of Medical Genetics (Slavotinek & Solomon, 2020). They are grateful to Wiley and the journal leadership and staff for their guidance. BDS is an employee of the National Institutes of Health, but conducts activities for the journal as an approved outside activity. N/A Appendix S1. Instructions for authors. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

In the author information for "CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" published in Am J Med Genet Part A 164: 2557–2566, contributors Elaine Zackai, Margaret Harr, Elizabeth Bhoj, Avni Santani, Rebecca Ganetzky, and Donna M. McDonald-McGinn were incorrectly affiliated with the Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington. Please note that for these six authors the correct affiliation should be the Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, Philadelphia, Pennsylvania. The correct author information listing should read: Tara L. Wenger,1 Margaret Harr,2 Stefania Ricciardi,3 Elizabeth Bhoj,2 Avni Santani,2 Margaret P. Adam,4 Sarah S. Barnett,5 Rebecca Ganetzky,2 Donna M. McDonald-McGinn,2 Domenica Battaglia,6 Stefania Bigoni,7 Angelo Selicorni,8 Giovanni Sorge,9 Matteo Della Monica,10 Francesca Mari,11 Elena Andreucci,12 Silvia Romano,13 Guido Cocchi,14 Salvatore Savasta,15 Baris Malbora,16 Giuseppe Marangi,3 Livia Garavelli,17 Marcella Zollino,3 Elaine H. Zackai2 1Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, WA 2Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA 19104 3Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy 4Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA 5Division of Genetics, University of Missouri Children's Hospital 6UOC di Neuropsichiatria Infantile, Universitá Cattolica del Sacro Cuore, Roma, Italy 7Unitá di Genetica Medica, Azienda Ospedaliero-Universitaria di Ferrara, Italy 8Dipartimento di Pediatria, Ospedale S. Gerardo/Fondazione MBBM, Universitá di Milano-Bicocca, Monza, Italy 9Unità Operativa Complessa di Clinica Pediatrica, Dipartimento di Scienze Mediche e Pediatriche, Azienda Ospedaliera Universitaria "Policlinico - Vittorio Emanuele", Università di Catania, Catania, Italy 10Unità Operativa di Genetica Medica, Ospedale Gaetano Rummo, Benevento, Italy 11UOC di Genetica Medica, Universitá di Siena, Siena, Italy 12Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy 13Unitá di Genetica Medica, Dipartimento di Fisiopatologia Clinica, Azienda Ospedaliero Universitaria "A. Meyer", Universitá di Firenze, Italy 14UO di neonatologia, Policlinico S. Orsola-Malpighi, Università di Bologna, Bologna, Italy 15Dipartimento di Pediatria, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy 16Department of Pediatrics, Gulhane Military Medical Academy, Haydarpasa Training Hospital, Istanbul, Turkey 17Unitá di Genetica Clinica, Dipartimento Ostetrico-Ginecologico e Pediatrico, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S Maria Nuova, Reggio Emilia, Italy The Publisher regrets the errors.

Many reports have recently recommended a careful weighing of the\npotential benefits and harms of genetic testing (carrier or predisposition) of\nchildren and adolescents [Andrews et al., Washington DC: National Academy\nPress, 1994; Wertz et al., JAMA, 272:875-881, 1994; Clinical Genetics Society\n(UK), J Med Genet, 31:785-797, 1994; ASHJ/ACMG, Am J Hum Genet, 57:1233-1241,\n1995]. Despite this, youngsters are currently being tested for late-onset\ndisorders as well as for carrier status [Reilly and Wertz, Am J Hum Genet,\n57:A57, 1995]. Many children to be tested will be those in at-risk families,\nwho may already have experienced the chronic illness or death of a close\nrelative. Thus, reactions to testing will be influenced by prior family\nexperiences. Emotional reactions to testing will be determined by both the\nchild's cognitive and psychosocial development. Testing of adolescents may\nalter the achievement of developmental tasks, including seeking freedom from\nparental figures, establishment of personal identity, handling of sexual\nenergies, and remodeling of former idealizations of self and others. There are\nmany potential dilemmas in deciding whether to test a child or adolescent for\ngenetic status. If parents choose not to test, the risk is for later\ndifficulty integrating such information into the self concept. If parents test\nand do not tell results, the risk is for creating a climate of family secrecy. \nIf parents test and tell results, the risk is robbing the child of the\nautonomy of his or her own later decision. Perhaps the question of whether to\ntest is not the real question. More than genetic testing, genetic counseling\nis of crucial importance in thoughtful decisions concerning whether to test an\nindividual child or adolescent. A more important question may be how to\nprovide unaffected children in at-risk families with appropriate counseling. \nProvision of psychosocial support to at-risk families will enable the child to\nencounter genetic testing, if necessary, supported with the best possible\nresources.

The Balkan Journal of Medical Genetics (BJMG) is an international, open access journal that publishes scientific papers covering different aspects of medical genetics. It is published by the Macedonian Academy of Sciences and Arts twice a year in both printed and electronic versions. BJMG is covered by many abstracting and indexing databases, including PubMed Central and Thomson Reuters. Although there are many journals in the field of medical genetics, only a few come from regions outside Western Europe and North America. Being one of these few journals, BJMG aims to promote genetics and research on this topic in the Balkan countries and beyond. BJMG's ultimate goal is to raise the scientific quality and metrics of the journal and provide a better place for BJMG in the community of scientific journals.

The Journal of medical genetics moves towards open access publishing Open access publishing, broadly defined as content that is freely available on the Internet without the need of a subscription or payment, is the hot topic in journalology. Advocates of open access publishing have been buoyed by the agreement to fund publication charges by large agencies, such as the US National Institutes of Health, the Howard Hughes Medical Institute, and the Wellcome Trust. The open access model of publishing depends on switching publication costs from the current subscription model (“reader pays”) to researchers (“author pays”). There are clear advantages in increasing accessibility to their research findings for well-funded research groups, particularly those funded by agencies that are committed to paying publication charges in open access journals. However, for some researchers, especially clinical researchers without large grants, there has been concern about the cost of publishing a paper in an open access journal – some journals have cited …

In the January 2006 issue, “Association study of a functional promoter polymorphism in the XBP1 gene and schizophrenia” pages 71–75, the authors of the article express their regret of a nomenclature error of substantial nominal impact. In the report the C and G alleles in the three European samples should be changed, so that C is replaced by G and vice versa. This means that the allele frequency pattern is almost inversed as compared to the Asian populations (Tables I–III). This would give rise to the following changes: within the European samples the only nominal association detected and reported, that is, the one between schizophrenia and the G/G genotype among Swedish men, should be between schizophrenia and the C/C genotype. Otherwise, as previously reported no significant differences were detected within the European samples. For the correct meta-analyses, see Tables I–III supplemented here. We previously reported a borderline significant association between G containing genotypes and schizophrenia in the meta-analysis of the total samples. This association is not significant after the allele correction of the European samples (Table I, h), whereas comparisons of alleles now give rise to a borderline significant association between the G allele and the disorder (Table I, i; OR = 1.11, 95% CI 1.01–1.23). This association, however, is to a major extent based on the Asian samples, as removing any of the Asian studies from the analysis yields a non-significant result. As before, no associations were detected when meta-analyses were performed for each gender separately (Tables II and III).

In the March 2006 issue, “Systematic Search for Single Nucleotide Polymorphisms in a Lymphoid Tyrosine Phosphatase Gene (PTPN22): Association Between a Promoter Polymorphism and Type 1 Diabetes in Asian Populations.” pages 586–593, the authors of the article express their regret for a typographical error of one of the authors and a nomenclature error of substantial nominal impact. The eighth author's name was incorrectly listed as “Mho Uga” and it should be “Miho Uga.” Regarding the nomenclature error, the C and G allele in the promoter −1123 G > C SNP should be changed, so that C is replaced by G and vice versa throughout the Abstract and text. The G and C allele should also be reversed in the haplotype frequencies on pages 590 and 591 as well. For the correct results on association studies and TDT analysis, see Tables II–IV supplemented here. The replacement of the C and G allele does not affect the significant associations between −1123C > G SNP and type 1 diabetes in the Asian population. However, in the multiplex families of the BDA Warren Repository the −1123C allele is significantly associated with type 1 diabetes susceptibility. Table II. DNA Polymorphisms in PTPN22 Gene in Patients With Type 1 Diabetes and Healthy Control Subjects Table III. Association Between −1123C>G Polymorphism in the PTPN22 Promoter Region and Mode of Type 1 Diabetes Onset Table IV. AFBAC Association Test and TDT Between PTPN22 Polymorphisms and Type 1 Diabetes in 89 BDA Multiplex Families With Unaffected Parents

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The authors have recently discovered an error in analysis that alters the results of their recently published GWAS of age at onset in bipolar disorder. Figure 1 and Table II below show the corrected information. Please note that all results remain statistically non-significant and thus the conclusions drawn remain the same. The results for the analysis of psychotic symptoms were not affected by this mistake and no other publications were influenced. The authors sincerely regret this error and apologize for any confusion it may have caused. Manhattan plot for GWA of age at onset of BP. Genome-wide association results for observed and imputed allelic dosages using linear regression.

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Abstract This is an introduction to this issue of “Seminars” which is an offshoot of the proceedings of the third International Neural Tube Defects Symposium, held in 2003. This was an interdisciplinary meeting with the common emphasis on neural tube defects research. © 2005 Wiley‐Liss, Inc.

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