BMC Medical Genetics

Announcing the launch of In Review

BMC Medical Genetics, in partnership with Research Square, is now offering In Review. Authors choosing this free optional service will be able to:

Share their work with fellow researchers to read, comment on, and cite even before publication
Showcase their work to funders and others with a citable DOI while it is still under review
Track their manuscript - including seeing when reviewers are invited, and when reports are received

See the full range of benefits of In Review and how to opt-in

See what the In Review platform looks like

Featured articles

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IL-6 associates with acute chorioamnionitis and pre-term birth

Placental DNA genotyping reveals IL-6 gene variant rs1800796 is associated with the inflammation of placenta and foetal membrane that is often reported in pre-term birth.

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Day-to-day stressors and gene methylation on cardiovascular disease and cognitive impairment

Several genes linked to subclinical cardiovascular disease and cognitive impairment appear to be differentially methylated in subjects experiencing early- and mid-life stress.

Content type: Case report
| 17 July 2019

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

Authors: Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas and Eglė Preikšaitienė
Content type: Case report
| 16 July 2019

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

Authors: Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada and Gen Nishimura
Content type: Research article
| 15 July 2019

Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency

Authors: Friedrich Kueppers, Mark D. Andrake, Qifang Xu, Roland L. Dunbrack Jr, Joannah Kim and Christopher L. Sanders
Content type: Case report
| 12 July 2019

Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report

Authors: Guo-min Li, Hai-mei Liu, Wan-zhen Guan, Hong Xu, Bing-bing Wu and Li Sun
Content type: Research article
| 11 July 2019

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients

Authors: Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov and Ekaterina Y. Zakharova

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Content type: Research article
| 14 December 2009

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

Authors: Cibele Masotti, Camila C Ornelas, Alessandra Splendore-Gordonos, Ricardo Moura, Têmis M Félix, Nivaldo Alonso, Anamaria A Camargo and Maria Rita Passos-Bueno
Content type: Case report
| 1 May 2013

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation

Authors: Lauren S Marshall, Julie Simon, Tim Wood, Mei Peng, Renius Owen, Gary S Feldman and Michael V Zaragoza
Content type: Research article
| 1 May 2015

Leptin and adiponectin DNA methylation levels in adipose tissues and blood cells are associated with BMI, waist girth and LDL-cholesterol levels in severely obese men and women

Authors: Andrée-Anne Houde, Cécilia Légaré, Simon Biron, Odette Lescelleur, Laurent Biertho, Simon Marceau, André Tchernof, Marie-Claude Vohl, Marie-France Hivert and Luigi Bouchard
Content type: Research article
| 19 February 2013

Allele-specific polymerase chain reaction for the detection of Alzheimer’s disease-related single nucleotide polymorphisms

Authors: Mohd Nazif Darawi, Chin Ai-Vyrn, Kalavathy Ramasamy, Philip Poi Jun Hua, Tan Maw Pin, Shahrul Bahyah Kamaruzzaman and Abu Bakar Abdul Majeed
Content type: Correspondence
| 11 May 2010

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

Authors: Simon C Ramsden, Jill Clayton-Smith, Rachael Birch and Karin Buiting

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Aims and scope

BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.

Editor

Matteo Pasini, BioMed Central, UK

Manuscript Editor

Anne Menard, BioMed Central, UK

Assistant Editor

Arwa Tawfiq, BioMed Central, UK

Section Editors

Dan Rujescu, Universitätsklinikum Halle, Germany
Danish Saleheen, University of Pennsylvania, USA

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We are recruiting new Editorial Board members

We are now recruiting Associate Editors for our Editorial Board to join our team of academic editors in assessing manuscripts in the field of medical genetics.

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Standards of reporting

BMC Medical Genetics advocates complete and transparent reporting of research. The BMC minimum standards of reporting checklist is intended as a tool for authors to transparently describe their research and ensure reproducibility. We encourage our authors to adhere to these standards when preparing their manuscript.

Research Data Support for authors

Research Data Support is an optional Springer Nature service available to researchers who have datasets they want to make easier to cite, share and find. Learn more about this service and the many benefits of making your data publicly available.

BMC Series blog

An Interview with BMC Materials Section Editor, Professor Wenguo Cui

18 July 2019
What are the most effective interventions to improve physical performance in pre-frail and frail adults? It’s surprisingly hard to tell.

15 July 2019
EULAR 2019: highlights from the annual conference

03 July 2019

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BMC Medical Genetics

Announcing the launch of In Review

Featured articles

IL-6 associates with acute chorioamnionitis and pre-term birth

Day-to-day stressors and gene methylation on cardiovascular disease and cognitive impairment

Articles

A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency

Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation

Leptin and adiponectin DNA methylation levels in adipose tissues and blood cells are associated with BMI, waist girth and LDL-cholesterol levels in severely obese men and women

Allele-specific polymerase chain reaction for the detection of Alzheimer’s disease-related single nucleotide polymorphisms

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

Aims and scope

Editor

Manuscript Editor

Assistant Editor

Section Editors

Join our Editorial Board

We are recruiting new Editorial Board members

Resources for authors

Standards of reporting

Research Data Support for authors

BMC Series blog

An Interview with BMC Materials Section Editor, Professor Wenguo Cui

What are the most effective interventions to improve physical performance in pre-frail and frail adults? It’s surprisingly hard to tell.

EULAR 2019: highlights from the annual conference

Latest Tweets

2018 Journal Metrics

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