Author Guidelines

SCOPE AND POLICY

Journal of Medical Genetics is an open access, peer-reviewed journal with a focus on reporting innovations within the field of human and medical genetics. The journal considers articles on all aspects of the genetic basis of human disease, with a particular emphasis on biochemical genetics, biological studies of enzymes and other protein deficiencies, as well as immunogenetics. 

Our peer review process has, as a first stage, an internal revision, in which the general quality of the work and the relevance to the scope of the journal are determined. The works approved in the first stage are sent to, at least, two external referees for a double blind review. After this process, works are either accepted, accepted with revisions, or rejected. Disagreements among reviewers are resolved by our editorial committee. 

Authors must submit only one article for evaluation simultaneously. Authors can only publish their work in non-consecutive volumes. The order of publication will depend on the criteria of the editor.

FORM AND PREPARATION OF MANUSCRIPTS 

Journal of Medical Genetics is an open access, peer-reviewed journal with a focus on reporting innovations within the field of human and medical genetics. The journal considers articles on all aspects of the genetic basis of human disease, with a particular emphasis on biochemical genetics, biological studies of enzymes and other protein deficiencies, as well as immunogenetics. 

Languages:

Health and Medical Informatics Digest only receives papers in English, French, Dutch and German

Extension

Articles should have up to 8,000 words considering the references. Other documents such as interviews, reviews and notes may have up to 4,000 words. All papers must be sent in a letter-sized sheet. 

Authors must submit the three following files:

  1. The original article, without any data related to authors ID, and using the latest APA format.
  2. A Word document including the authors ID, i.e., full name, institutional email, affiliation, postal address, ORCID number, and funding acknowledgement if present.
  3. Cover letter including 4 possible referees and a declaration of originality.

Title, abstract and keywords

All articles must include an abstract with no more than 300 words, and 5 keywords. The general context of the research, the method and the main results should be clear in the abstract. All papers must include the title, abstract and keywords in  French or Dutch or German and English

1.1 IN-TEXT CITATIONS 

In-textcitations and the reference list should be submitted following the 6th edition of the American Psychological Association (APA) format. In general, this format has been created to simplify and standardize citation and bibliographical reference formats. APA format requires the author to follow the author-date method (Chomsky, 2001). Footnotes or Latin abbreviations (such as Ibid., Op.Cit., etc.) should not be used. All information should be included in the text and bibliographical references.

Citation Format

Citations only include the author’s last name, never first names nor initials. 

  1. a) Direct quotations

Direct quotations aim at literally reproducing an author’s ideas. The quotation must include the author’s last name as well as the page number for the reference. 

Example. According to Venegas (2004, p. 55): “The text is a semantic, pragmatic and grammar unit”. When there are two authors, both names are explained in all instances.

Example. Van Dijk and Kintsch (1983, p. 25) suggest that “the text is a... ”. When there are more than two authors, all names are mentioned only in the first reference.

Conrad, Reppen and Clark (1988, p. 245) suggest that “Corpus linguistics...”. Then, the reference is reduced, leaving only the first author and replacing other authors’ last names for the Latin phrase et al., which, as it is a Latin word, should be italicized: Conrad et al. (1988).

  1. b) Indirect quotations

This quotation is used to either paraphrase, comment on an idea of an author, refer to a particular work or describe research. Indirect quotations do not require quotation marks but the author’s name and year of publication should be included.

Examples

 Chomsky’s findings (1957) are crucial... When the author’s name is part of the text, the year of publication is included in parentheses. 

Baudrillard (1991) suggests that ... When the last name and date of publication are not part of the narrative of the text, both elements are included in parenthesis, separated by a comma. 

Example. Postmodern society and media systems (Baudrillard, 1991) have opened a new perspective. When both the date and the name are part of the sentence, parentheses is not used.

  1. c) Other considerations

Authors

1 or 2 authors: Every time the work is cited, both authors are mentioned. Within parenthesis: (Davis & Brown, 1995, p.25); In the body of the text: Davis y Brown (1995, p. 25).

3 to 5 authors: First time the work is cited, all names must be mentioned. Subsequence times only the first author is required, followed by the Latin expression “et al.” (Lee, Lewis, Taylor, Smith, & Johnson, 2015) / (Lee et al., 2015).

6 or more authors: Every time the work is cited, only the first author is mentioned followed by the Latin expression “et al.”.

Literal citations

40 words or fewer: must be in quotes, not in italics, and followed by the reference in parenthesis (Author, year, page).

more than 40 words: must be in a separate paragraph, with a smaller font, not in quotes, nor italics, and followed by the reference in parenthesis (Author, year, page).

Multiple publications in the same year

In 1991 Baudrillard studied the relationship between postmodern society and media systems... If multiple articles of a single author were published in the same year, letters in sequence followed by the years should be used.

Much has been said in relation to correspondence between the company and its study (Baudrillard, 1991a, 1991b).

REFERENCES

Reference list should be alphabetized. For multiple articles by the same author, the entries should be listed in chronological order. In case the same author has more than one publication in the same year, letter suffixes should be assigned to the year (2008a, 2008b). It is recommended to crosscheck in-text citations and references so that all citations have their corresponding reference.

Some basic principles for bibliographical references:

Names of books are italicized.

Names of articles are in normal print.

Names of journals are italicized.

Authors are named last name followed by initials: Chomsky, N.

 Examples: 

Author's Last Name, First Initial. Middle Initial. (Publication Year). Article title. Journal Title, volume number(issue number), page number. doi: doi number

Hargens, L & Herting, J. (2006). Analyzing the association between referees’recommendations and editors’ decisions. Scientometrics 67(1), 15–26. doi: 10.1556/Scient.67.2006.1.2

  1. C) Book:

Author's Last Name, First Initial. Middle Initial. (Publication Year). Title of book: Use capital letter for the first word for subtitle. Location: Publisher. ​

 Coulon, A. (1995). Etnometodología y educación. Buenos Aires: Paidós.

  1. D) Edited book (edited books are cited only to refer to the work as a whole):

Editor's Last Name, First Initial. Middle Initial (Ed.). (Publication Year). Title of book. Location: Publication.

Parodi, G. (Ed.) (2002). Lingüística e interdisciplinariedad. Desafíos para el nuevo milenio: ensayos en honor a Marianne Peronard. Valparaíso: Ediciones Universitarias de la Pontificia Universidad Católica de Valparaíso. 

  1. E) Section or Chapter in a book:

Author's Last Name, First Initial. Middle Initial. (Publication Year). Title of chapter. In Author's First Initial. Middle initial. Last Name (Eds.), Title of book (page number/s). Location: Publisher.

Anderson, R. (1984). Role of the reader’s schema in Comprehension, Learning, and Memory. En R. Anderson, J. Osborn & R. Tierney (Eds.), Learning to Read in American Schools: Basal readers and content text (pp. 469-495). Hillsdale, NJ: Erlbaum.

  1. F) Electronic document:

Author's Last Name, First Initial. Middle Initial. (Publication Year). Title of work [Type of work]. Retrieved from URL

Gamba, A., & Gómez, M. (2003). Sobre el discurso científico y las relaciones de género: una revisión histórica [Powerpoint]. Recuperado de http://mujereslibres.hypermart.net/discurso.ppt

  1. G) Thesis:

Author's Last Name, First Initial. Middle Initial. (Publication Year). Thesis Title (Degree). University, city, country.

Sabaj, O. (2004). Comportamiento de los verbos abstractos en el corpus PUCV-2003 (Doctoral thesis). Pontificia Universidad Católica de Valparaíso, Valparaíso, Chile.

  1. H) Works presented in congresses, seminars etc.:

Author's Last Name, First Initial. Middle Initial. (Publication Year, month day). Work Title. Work presented in Congress Title, City, Country. Retrieved from URL

Rosas, M. (2001, October 4th). Estructura de las clases de comprensión lectora en 5º y 8º año de Enseñanza General Básica. Work presented in XIV Congreso de la Sociedad Chilena de Lingüística, Universidad de Los Lagos, Osorno. Retrieved from http://congreso.org/rosas.pdf 

Graphic Material

All graphic material must be labeled by the words Figure, Table, and Graphic depending on the case, and must be followed by their respective number.  They must also have a short description or title.

 Material from other sources must be referenced accordingly.

Appendices

Appendices or supplementary material go after the References and should be numbered and followed by a brief description. They should be capitalized and referenced in the body of the work.