European Journal of Human Genetics The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community. http://feeds.nature.com/ejhg/rss/current Nature Publishing Group en © 2024 Macmillan Publishers Limited, part of Springer Nature. All rights reserved. European Journal of Human Genetics © 2024 Macmillan Publishers Limited, part of Springer Nature. All rights reserved. permissions@nature.com European Journal of Human Genetics https://www.nature.com/uploads/product/ejhg/rss.png http://feeds.nature.com/ejhg/rss/current <![CDATA[The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen <i>BRCA1</i> 185delAG among South Indians]]> https://www.nature.com/articles/s41431-024-01596-w European Journal of Human Genetics, Published online: 28 March 2024; doi:10.1038/s41431-024-01596-w

The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians]]>
BRCA1 185delAG among South Indians]]> Ajoy Oommen JohnAshish SinghPratibha YadavAnjana JoelDivya Bala ThumatyK. Fibi NinanJosh Thomas GeorgyAnish Jacob CherianShawn ThomasAnitha ThomasVinotha ThomasAbraham PeedicayilDeny VargheseR. ParthibanLavanya RavichandranJabasteen JohnsonNihal ThomasBijesh YadavS. PatriciaB. SelvamaniDeepak AbrahamM. J. PaulRaju Titus ChackoAaron Chapla doi:10.1038/s41431-024-01596-w European Journal of Human Genetics, Published online: 2024-03-28; | doi:10.1038/s41431-024-01596-w 2024-03-28 European Journal of Human Genetics 10.1038/s41431-024-01596-w https://www.nature.com/articles/s41431-024-01596-w
<![CDATA[Evaluation of a two-step model of opportunistic genomic screening]]> https://www.nature.com/articles/s41431-024-01592-0 European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-024-01592-0

Evaluation of a two-step model of opportunistic genomic screening]]>
Melissa MartynLing LeeAlli JanElly LynchRona WeerasuriyaAnaita Kanga-ParabiaClara Gaff doi:10.1038/s41431-024-01592-0 European Journal of Human Genetics, Published online: 2024-03-25; | doi:10.1038/s41431-024-01592-0 2024-03-25 European Journal of Human Genetics 10.1038/s41431-024-01592-0 https://www.nature.com/articles/s41431-024-01592-0
<![CDATA[DNA methylation profiling in Kabuki syndrome: reclassification of germline <i>KMT2D</i> VUS and sensitivity in validating postzygotic mosaicism]]> https://www.nature.com/articles/s41431-024-01597-9 European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-024-01597-9

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism]]>
KMT2D VUS and sensitivity in validating postzygotic mosaicism]]> Marcello NicetaAndrea CiolfiMarco FerilliLucia PedaceCamilla CappellettiClaudia NardiniMathis HildonenLuigi ChiriattiEvelina MieleMaria Lisa DenticiMaria GnazzoClaudia CesarioElisa PisaneschiAnwar BabanAntonio NovelliSilvia MaitzAngelo SelicorniGabriella Maria SqueoGiuseppe MerlaBruno DallapiccolaZeynep TumerMaria Cristina DigilioManuela PrioloMarco Tartaglia doi:10.1038/s41431-024-01597-9 European Journal of Human Genetics, Published online: 2024-03-25; | doi:10.1038/s41431-024-01597-9 2024-03-25 European Journal of Human Genetics 10.1038/s41431-024-01597-9 https://www.nature.com/articles/s41431-024-01597-9
<![CDATA[Secondary use of genomic data: patients’ decisions at point of testing and perspectives to inform international data sharing]]> https://www.nature.com/articles/s41431-023-01531-5 European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-023-01531-5

Secondary use of genomic data: patients’ decisions at point of testing and perspectives to inform international data sharing]]>
Melissa MartynEmily ForbesLing LeeAnaita Kanga-ParabiaRona WeerasuriyaElly LynchPenny GleesonClara Gaff doi:10.1038/s41431-023-01531-5 European Journal of Human Genetics, Published online: 2024-03-25; | doi:10.1038/s41431-023-01531-5 2024-03-25 European Journal of Human Genetics 10.1038/s41431-023-01531-5 https://www.nature.com/articles/s41431-023-01531-5
<![CDATA[Decreased calcium permeability caused by biallelic <i>TRPV5</i> mutation leads to autosomal recessive renal calcium-wasting hypercalciuria]]> https://www.nature.com/articles/s41431-024-01589-9 European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-024-01589-9

Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria]]>
TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria]]> Naz Guleray LafciMark van GoorSemra CetinkayaJenny van der WijstMelisa AcunFatma Kurt ColakArda CetinkayaJoost Hoenderop doi:10.1038/s41431-024-01589-9 European Journal of Human Genetics, Published online: 2024-03-25; | doi:10.1038/s41431-024-01589-9 2024-03-25 European Journal of Human Genetics 10.1038/s41431-024-01589-9 https://www.nature.com/articles/s41431-024-01589-9
<![CDATA[Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis]]> https://www.nature.com/articles/s41431-024-01590-2 European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01590-2

Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis]]>
Enrica MarchionniDaniele GuadagnoloGioia MastromoroAntonio Pizzuti doi:10.1038/s41431-024-01590-2 European Journal of Human Genetics, Published online: 2024-03-15; | doi:10.1038/s41431-024-01590-2 2024-03-15 European Journal of Human Genetics 10.1038/s41431-024-01590-2 https://www.nature.com/articles/s41431-024-01590-2
<![CDATA[The congenital hearing phenotype in <i>GJB2</i> in Queensland, Australia: V37I and mild hearing loss predominates]]> https://www.nature.com/articles/s41431-024-01584-0 European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01584-0

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates]]>
GJB2 in Queensland, Australia: V37I and mild hearing loss predominates]]> Rebecca KriukelisMichael T. GabbettRachael BeswickAideen M. McInerney-LeoCarlie DriscollKaren Liddle doi:10.1038/s41431-024-01584-0 European Journal of Human Genetics, Published online: 2024-03-15; | doi:10.1038/s41431-024-01584-0 2024-03-15 European Journal of Human Genetics 10.1038/s41431-024-01584-0 https://www.nature.com/articles/s41431-024-01584-0
<![CDATA[A yeast based assay establishes the pathogenicity of novel missense <i>ACTA2</i> variants associated with aortic aneurysms]]> https://www.nature.com/articles/s41431-024-01591-1 European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01591-1

A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms]]>
ACTA2 variants associated with aortic aneurysms]]> Cristina CalderanUgo SorrentinoLuca PersanoEva TrevissonGeppo SartoriLeonardo SalviatiMaria Andrea Desbats doi:10.1038/s41431-024-01591-1 European Journal of Human Genetics, Published online: 2024-03-15; | doi:10.1038/s41431-024-01591-1 2024-03-15 European Journal of Human Genetics 10.1038/s41431-024-01591-1 https://www.nature.com/articles/s41431-024-01591-1