The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians
European Journal of Human Genetics, Published online: 28 March 2024; doi:10.1038/s41431-024-01596-wThe BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 28, 2024 Category: Genetics & Stem Cells Authors: Ajoy Oommen John Ashish Singh Pratibha Yadav Anjana Joel Divya Bala Thumaty K. Fibi Ninan Josh Thomas Georgy Anish Jacob Cherian Shawn Thomas Anitha Thomas Vinotha Thomas Abraham Peedicayil Deny Varghese R. Parthiban Lavanya Ravichandran Jabasteen Johnson Source Type: research

Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria
European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-024-01589-9Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 25, 2024 Category: Genetics & Stem Cells Authors: Naz Guleray Lafci Mark van Goor Semra Cetinkaya Jenny van der Wijst Melisa Acun Fatma Kurt Colak Arda Cetinkaya Joost Hoenderop Source Type: research

Secondary use of genomic data: patients’ decisions at point of testing and perspectives to inform international data sharing
European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-023-01531-5Secondary use of genomic data: patients’ decisions at point of testing and perspectives to inform international data sharing (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 25, 2024 Category: Genetics & Stem Cells Authors: Melissa Martyn Emily Forbes Ling Lee Anaita Kanga-Parabia Rona Weerasuriya Elly Lynch Penny Gleeson Clara Gaff Source Type: research

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-024-01597-9DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 25, 2024 Category: Genetics & Stem Cells Authors: Marcello Niceta Andrea Ciolfi Marco Ferilli Lucia Pedace Camilla Cappelletti Claudia Nardini Mathis Hildonen Luigi Chiriatti Evelina Miele Maria Lisa Dentici Maria Gnazzo Claudia Cesario Elisa Pisaneschi Anwar Baban Antonio Novelli Silvia Maitz Angelo Sel Source Type: research

Evaluation of a two-step model of opportunistic genomic screening
European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-024-01592-0Evaluation of a two-step model of opportunistic genomic screening (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 25, 2024 Category: Genetics & Stem Cells Authors: Melissa Martyn Ling Lee Alli Jan Elly Lynch Rona Weerasuriya Anaita Kanga-Parabia Clara Gaff Source Type: research

A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms
European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01591-1A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 15, 2024 Category: Genetics & Stem Cells Authors: Cristina Calderan Ugo Sorrentino Luca Persano Eva Trevisson Geppo Sartori Leonardo Salviati Maria Andrea Desbats Source Type: research

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates
European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01584-0The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 15, 2024 Category: Genetics & Stem Cells Authors: Rebecca Kriukelis Michael T. Gabbett Rachael Beswick Aideen M. McInerney-Leo Carlie Driscoll Karen Liddle Source Type: research

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
European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01590-2Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 15, 2024 Category: Genetics & Stem Cells Authors: Enrica Marchionni Daniele Guadagnolo Gioia Mastromoro Antonio Pizzuti Source Type: research

Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications
European Journal of Human Genetics, Published online: 14 March 2024; doi:10.1038/s41431-023-01529-zSystematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 14, 2024 Category: Genetics & Stem Cells Authors: Marije A. van der Geest Els L. M. Maeckelberghe Marielle E. van Gijn Anneke M. Lucassen Morris A. Swertz Irene M. van Langen Mirjam Plantinga Source Type: research

Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus
European Journal of Human Genetics, Published online: 12 March 2024; doi:10.1038/s41431-024-01586-yOrigin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 12, 2024 Category: Genetics & Stem Cells Authors: Xinhui Chen Fan Zhang Yihua Shi Haotian Wang Miao Chen Dehao Yang Lebo Wang Peng Liu Fei Xie Jiawen Chen Aisi Fu Ben Hu Bo Wang Zhiyuan Ouyang Sheng Wu Zhiru Lin Zhidong Cen Wei Luo Source Type: research

Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study
European Journal of Human Genetics, Published online: 12 March 2024; doi:10.1038/s41431-024-01585-zRe-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 12, 2024 Category: Genetics & Stem Cells Authors: John G ásdal Karstensen Thomas v. Overeem Hansen Johan Burisch Malene Djursby Helle H øjen Majbritt Busk Madsen Niels Jespersen Anne Marie Jelsig Source Type: research

Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability
European Journal of Human Genetics, Published online: 11 March 2024; doi:10.1038/s41431-024-01581-3Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 11, 2024 Category: Genetics & Stem Cells Authors: Lea Urpa Mitja I. Kurki Elisa Rahikkala Eija H ämäläinen Veikko Salomaa Jaana Suvisaari Riikka Keski-Filppula Merja Rauhala Satu Korpi-Heikkil ä Jonna Komulainen-Ebrahim Heli Helander P äivi Vieira Johanna Uusimaa Jukka S. Moilanen Jarmo K örkkö Ta Source Type: research

A second hotspot for pathogenic exon-skipping variants in CDC45
European Journal of Human Genetics, Published online: 11 March 2024; doi:10.1038/s41431-024-01583-1A second hotspot for pathogenic exon-skipping variants in CDC45 (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 11, 2024 Category: Genetics & Stem Cells Authors: Kelly Schoch Mischa S. G. Ruegg Bridget J. Fellows Joseph Cao Sabine Uhrig Stephanie Einsele-Scholz Saskia Biskup Samuel R. A. Hawarden Vincenzo Salpietro Valeria Capra Chris M. Brown Andrea Accogli Vandana Shashi Louise S. Bicknell Source Type: research

Correction to: Thirty-years of genetic counselling education in Europe: a growing professional area
European Journal of Human Genetics, Published online: 11 March 2024; doi:10.1038/s41431-024-01571-5Correction to: Thirty-years of genetic counselling education in Europe: a growing professional area (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 11, 2024 Category: Genetics & Stem Cells Authors: M. Paneque R. O ´Shea A. Narravula E. Siglen A. Ciuca A. Abul í C. Serra-Juh é Source Type: research

Solving medical mysteries with genomics
European Journal of Human Genetics, Published online: 08 March 2024; doi:10.1038/s41431-024-01568-0Solving medical mysteries with genomics (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 8, 2024 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research