Pub Date : 2024-08-03DOI: 10.1038/s41431-024-01675-y
David Curtis
An important issue in the analysis of rare variant association studies is the ability to annotate nonsynonymous variants in terms of their likely importance as affecting protein function. To address this, AlphaMissense was recently released and was shown to have good performance using benchmarks based on variants causing severe disease and on functional assays. Here, we assess the performance of AlphaMissense across 18 genes which had previously demonstrated association between rare coding variants and hyperlipidaemia, hypertension or type 2 diabetes. The strength of evidence in favour of association, expressed as the signed log p value (SLP), was compared between AlphaMissense and 43 other annotation methods. The results demonstrated marked variability between genes regarding the extent to which nonsynonymous variants contributed to evidence for association and also between the performance of different methods of annotating the nonsynonymous variants. Although AlphaMissense produced the highest SLP on average across genes, it produced the maximum SLP for only 4 genes. For some genes, other methods produced a considerably higher SLP and there were examples of genes where AlphaMissense produced no evidence for association while another method performed well. The marked inconsistency across genes means that it is difficult to decide on an optimal method of analysis of sequence data. The fact that different methods perform well for different genes suggests that if one wished to use sequence data for individual risk prediction then gene-specific annotation methods should be used.
{"title":"Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease","authors":"David Curtis","doi":"10.1038/s41431-024-01675-y","DOIUrl":"10.1038/s41431-024-01675-y","url":null,"abstract":"An important issue in the analysis of rare variant association studies is the ability to annotate nonsynonymous variants in terms of their likely importance as affecting protein function. To address this, AlphaMissense was recently released and was shown to have good performance using benchmarks based on variants causing severe disease and on functional assays. Here, we assess the performance of AlphaMissense across 18 genes which had previously demonstrated association between rare coding variants and hyperlipidaemia, hypertension or type 2 diabetes. The strength of evidence in favour of association, expressed as the signed log p value (SLP), was compared between AlphaMissense and 43 other annotation methods. The results demonstrated marked variability between genes regarding the extent to which nonsynonymous variants contributed to evidence for association and also between the performance of different methods of annotating the nonsynonymous variants. Although AlphaMissense produced the highest SLP on average across genes, it produced the maximum SLP for only 4 genes. For some genes, other methods produced a considerably higher SLP and there were examples of genes where AlphaMissense produced no evidence for association while another method performed well. The marked inconsistency across genes means that it is difficult to decide on an optimal method of analysis of sequence data. The fact that different methods perform well for different genes suggests that if one wished to use sequence data for individual risk prediction then gene-specific annotation methods should be used.","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":"32 11","pages":"1419-1427"},"PeriodicalIF":3.7,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41431-024-01675-y.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141888805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-02DOI: 10.1038/s41431-024-01670-3
Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume
{"title":"Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.","authors":"Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J Burghel, Samantha Butler, Kathleen B M Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume","doi":"10.1038/s41431-024-01670-3","DOIUrl":"https://doi.org/10.1038/s41431-024-01670-3","url":null,"abstract":"","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-01DOI: 10.1038/s41431-024-01654-3
Bethan Mallabar-Rimmer, Samuel W. D. Merriel, Amy P. Webster, Leigh Jackson, Andrew R. Wood, Matthew Barclay, Jessica Tyrrell, Katherine S. Ruth, Christina Thirlwell, Richard Oram, Michael N. Weedon, Sarah E. R. Bailey, Harry D. Green
Colorectal cancer (CRC) is a leading cause of cancer mortality worldwide. Accurate cancer risk assessment approaches could increase rates of early CRC diagnosis, improve health outcomes for patients and reduce pressure on diagnostic services. The faecal immunochemical test (FIT) for blood in stool is widely used in primary care to identify symptomatic patients with likely CRC. However, there is a 6–16% noncompliance rate with FIT in clinic and ~90% of patients over the symptomatic 10 µg/g test threshold do not have CRC. A polygenic risk score (PRS) quantifies an individual’s genetic risk of a condition based on many common variants. Existing PRS for CRC have so far been used to stratify asymptomatic populations. We conducted a retrospective cohort study of 50,387 UK Biobank participants with a CRC symptom in their primary care record at age 40+. A PRS based on 201 variants, 5 genetic principal components and 22 other risk factors and markers for CRC were assessed for association with CRC diagnosis within 2 years of first symptom presentation using logistic regression. Associated variables were included in an integrated risk model and trained in 80% of the cohort to predict CRC diagnosis within 2 years. An integrated risk model combining PRS, age, sex, and patient-reported symptoms was predictive of CRC development in a testing cohort (receiver operating characteristic area under the curve, ROCAUC: 0.76, 95% confidence interval: 0.71–0.81). This model has the potential to improve early diagnosis of CRC, particularly in cases of patient noncompliance with FIT.
{"title":"Colorectal cancer risk stratification using a polygenic risk score in symptomatic primary care patients—a UK Biobank retrospective cohort study","authors":"Bethan Mallabar-Rimmer, Samuel W. D. Merriel, Amy P. Webster, Leigh Jackson, Andrew R. Wood, Matthew Barclay, Jessica Tyrrell, Katherine S. Ruth, Christina Thirlwell, Richard Oram, Michael N. Weedon, Sarah E. R. Bailey, Harry D. Green","doi":"10.1038/s41431-024-01654-3","DOIUrl":"10.1038/s41431-024-01654-3","url":null,"abstract":"Colorectal cancer (CRC) is a leading cause of cancer mortality worldwide. Accurate cancer risk assessment approaches could increase rates of early CRC diagnosis, improve health outcomes for patients and reduce pressure on diagnostic services. The faecal immunochemical test (FIT) for blood in stool is widely used in primary care to identify symptomatic patients with likely CRC. However, there is a 6–16% noncompliance rate with FIT in clinic and ~90% of patients over the symptomatic 10 µg/g test threshold do not have CRC. A polygenic risk score (PRS) quantifies an individual’s genetic risk of a condition based on many common variants. Existing PRS for CRC have so far been used to stratify asymptomatic populations. We conducted a retrospective cohort study of 50,387 UK Biobank participants with a CRC symptom in their primary care record at age 40+. A PRS based on 201 variants, 5 genetic principal components and 22 other risk factors and markers for CRC were assessed for association with CRC diagnosis within 2 years of first symptom presentation using logistic regression. Associated variables were included in an integrated risk model and trained in 80% of the cohort to predict CRC diagnosis within 2 years. An integrated risk model combining PRS, age, sex, and patient-reported symptoms was predictive of CRC development in a testing cohort (receiver operating characteristic area under the curve, ROCAUC: 0.76, 95% confidence interval: 0.71–0.81). This model has the potential to improve early diagnosis of CRC, particularly in cases of patient noncompliance with FIT.","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":"32 11","pages":"1456-1464"},"PeriodicalIF":3.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41431-024-01654-3.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141874529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-31DOI: 10.1038/s41431-024-01672-1
Alisdair McNeill
{"title":"Summer reading in EJHG","authors":"Alisdair McNeill","doi":"10.1038/s41431-024-01672-1","DOIUrl":"10.1038/s41431-024-01672-1","url":null,"abstract":"","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":"32 8","pages":"885-886"},"PeriodicalIF":3.7,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11291734/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-31DOI: 10.1038/s41431-024-01634-7
Hélène Dollfus, Marc R. Lilien, Pietro Maffei, Alain Verloes, Jean Muller, Giacomo M. Bacci, Metin Cetiner, Erica L. T. van den Akker, Monika Grudzinska Pechhacker, Francesco Testa, Didier Lacombe, Marijn F. Stokman, Francesca Simonelli, Aurélie Gouronc, Amélie Gavard, Mieke M. van Haelst, Jens Koenig, Sylvie Rossignol, Carsten Bergmann, Miriam Zacchia, Bart P. Leroy, Héléna Mosbah, Albertien M. Van Eerde, Djalila Mekahli, Aude Servais, Christine Poitou, Diana Valverde
Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS). BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date. The clinical manifestations are pleiotropic, can be observed in utero and will progress with age. Genetic testing has progressively improved in the last years prompting for a revision of the diagnostic criteria taking into account clinical Primary and Secondary features, as well as positive or negative molecular diagnosis. This consensus statement also emphasizes on initial diagnosis, monitoring and lifelong follow-up, and symptomatic care that can be provided to patients and family members according to the involved care professionals. For paediatricians, developmental anomalies can be at the forefront for diagnosis (such as polydactyly) but can require specific care, such as for associated neuro developmental disorders. For ophthalmology, the early onset retinal degeneration requires ad hoc functional and imaging technologies and specific care for severe visual impairment. For endocrinology, among other manifestations, early onset obesity and its complications has benefited from better evaluation of eating behaviour problems, improved lifestyle programs, and from novel pharmacological therapies. Kidney and urinary track involvements warrants lifespan attention, as chronic kidney failure can occur and early management might improve outcome. This consensus recommends revised diagnostic criteria for BBS that will ensure certainty of diagnosis, giving robust grounds for genetic counselling as well as in the perspective of future trials for innovative therapies.
{"title":"Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations","authors":"Hélène Dollfus, Marc R. Lilien, Pietro Maffei, Alain Verloes, Jean Muller, Giacomo M. Bacci, Metin Cetiner, Erica L. T. van den Akker, Monika Grudzinska Pechhacker, Francesco Testa, Didier Lacombe, Marijn F. Stokman, Francesca Simonelli, Aurélie Gouronc, Amélie Gavard, Mieke M. van Haelst, Jens Koenig, Sylvie Rossignol, Carsten Bergmann, Miriam Zacchia, Bart P. Leroy, Héléna Mosbah, Albertien M. Van Eerde, Djalila Mekahli, Aude Servais, Christine Poitou, Diana Valverde","doi":"10.1038/s41431-024-01634-7","DOIUrl":"10.1038/s41431-024-01634-7","url":null,"abstract":"Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS). BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date. The clinical manifestations are pleiotropic, can be observed in utero and will progress with age. Genetic testing has progressively improved in the last years prompting for a revision of the diagnostic criteria taking into account clinical Primary and Secondary features, as well as positive or negative molecular diagnosis. This consensus statement also emphasizes on initial diagnosis, monitoring and lifelong follow-up, and symptomatic care that can be provided to patients and family members according to the involved care professionals. For paediatricians, developmental anomalies can be at the forefront for diagnosis (such as polydactyly) but can require specific care, such as for associated neuro developmental disorders. For ophthalmology, the early onset retinal degeneration requires ad hoc functional and imaging technologies and specific care for severe visual impairment. For endocrinology, among other manifestations, early onset obesity and its complications has benefited from better evaluation of eating behaviour problems, improved lifestyle programs, and from novel pharmacological therapies. Kidney and urinary track involvements warrants lifespan attention, as chronic kidney failure can occur and early management might improve outcome. This consensus recommends revised diagnostic criteria for BBS that will ensure certainty of diagnosis, giving robust grounds for genetic counselling as well as in the perspective of future trials for innovative therapies.","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":"32 11","pages":"1347-1360"},"PeriodicalIF":3.7,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41431-024-01634-7.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-31DOI: 10.1038/s41431-024-01671-2
Marianne Geilswijk, Maurizio Genuardi, Emma R Woodward, Katie Nightingale, Jazzmin Huber, Mia Gebauer Madsen, Dieke Liekelema-van der Heij, Ian Lisseman, Jenny Marlé-Ballangé, Cormac McCarthy, Fred H Menko, R Jeroen A van Moorselaar, Elzbieta Radzikowska, Stéphane Richard, Neil Rajan, Mette Sommerlund, Maria T A Wetscherek, Nataliya Di Donato, Eamonn R Maher, Joan Brunet
Birt-Hogg-Dubé syndrome (BHD syndrome) is an autosomal dominant multisystem disorder with variable expression due to pathogenic constitutional variants in the FLCN gene. Patients with BHD syndrome are predisposed to benign cutaneous fibrofolliculomas/trichodischomas, pulmonary cysts with an associated risk of spontaneous pneumothorax, and renal cell carcinoma. A requirement for updated International consensus recommendations for the diagnosis and management of BHD syndrome was identified. Based on a comprehensive literature review and expert consensus within the fields of respiratory medicine, urology, radiology, dermatology, clinical oncology and clinical genetics, updated recommendations for diagnosis, surveillance and management in BHD syndrome were developed. With the widespread availability of FLCN genetic testing, clinical scenarios in which a diagnosis should be considered and criteria for genetic testing were defined. Following a clinical and/or molecular diagnosis of BHD syndrome, a multidisciplinary approach to disease management is required. Regular renal cancer surveillance is recommended in adulthood and life-long, but the evidence base for additional tumour surveillance is limited and further research warranted. Recommendations for the treatment of cutaneous, pulmonary and renal manifestations are provided. Awareness of BHD syndrome needs to be raised and better knowledge of the clinical settings in which the diagnosis should be considered should enable earlier diagnosis. Further details, including areas for future research topics are available at: https://www.genturis.eu/l=eng/Guidelines-and-pathways/Clinical-practice-guidelines.html .
比尔-霍格-杜贝综合征（Birt-Hogg-Dubé Syndrome，BHD 综合征）是一种常染色体显性多系统疾病，由于 FLCN 基因中的致病基因变异而表现各异。BHD 综合征患者易患良性皮肤纤维组织瘤/三叉神经瘤、肺囊肿并伴有自发性气胸和肾细胞癌的风险。国际上需要就 BHD 综合征的诊断和管理提出最新的共识建议。根据全面的文献综述以及呼吸内科、泌尿科、放射科、皮肤科、临床肿瘤学和临床遗传学领域的专家共识，制定了有关 BHD 综合征诊断、监测和管理的最新建议。随着 FLCN 基因检测的普及，确定了应考虑诊断的临床情况和基因检测的标准。在对 BHD 综合征进行临床和/或分子诊断后，需要采用多学科方法进行疾病管理。建议在成年期和终身定期进行肾癌监测，但额外肿瘤监测的证据基础有限，需要进一步研究。对皮肤、肺部和肾脏表现的治疗提出了建议。需要提高人们对 BHD 综合征的认识，并更好地了解应考虑诊断的临床环境，以便更早地做出诊断。更多详细信息，包括未来研究课题的领域，请访问：https://www.genturis.eu/l=eng/Guidelines-and-pathways/Clinical-practice-guidelines.html 。
{"title":"ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.","authors":"Marianne Geilswijk, Maurizio Genuardi, Emma R Woodward, Katie Nightingale, Jazzmin Huber, Mia Gebauer Madsen, Dieke Liekelema-van der Heij, Ian Lisseman, Jenny Marlé-Ballangé, Cormac McCarthy, Fred H Menko, R Jeroen A van Moorselaar, Elzbieta Radzikowska, Stéphane Richard, Neil Rajan, Mette Sommerlund, Maria T A Wetscherek, Nataliya Di Donato, Eamonn R Maher, Joan Brunet","doi":"10.1038/s41431-024-01671-2","DOIUrl":"10.1038/s41431-024-01671-2","url":null,"abstract":"<p><p>Birt-Hogg-Dubé syndrome (BHD syndrome) is an autosomal dominant multisystem disorder with variable expression due to pathogenic constitutional variants in the FLCN gene. Patients with BHD syndrome are predisposed to benign cutaneous fibrofolliculomas/trichodischomas, pulmonary cysts with an associated risk of spontaneous pneumothorax, and renal cell carcinoma. A requirement for updated International consensus recommendations for the diagnosis and management of BHD syndrome was identified. Based on a comprehensive literature review and expert consensus within the fields of respiratory medicine, urology, radiology, dermatology, clinical oncology and clinical genetics, updated recommendations for diagnosis, surveillance and management in BHD syndrome were developed. With the widespread availability of FLCN genetic testing, clinical scenarios in which a diagnosis should be considered and criteria for genetic testing were defined. Following a clinical and/or molecular diagnosis of BHD syndrome, a multidisciplinary approach to disease management is required. Regular renal cancer surveillance is recommended in adulthood and life-long, but the evidence base for additional tumour surveillance is limited and further research warranted. Recommendations for the treatment of cutaneous, pulmonary and renal manifestations are provided. Awareness of BHD syndrome needs to be raised and better knowledge of the clinical settings in which the diagnosis should be considered should enable earlier diagnosis. Further details, including areas for future research topics are available at: https://www.genturis.eu/l=eng/Guidelines-and-pathways/Clinical-practice-guidelines.html .</p>","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-26DOI: 10.1038/s41431-024-01659-y
Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly J. Clark, Emily L. Durham, Elizabeth M. Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Irene Valenzuela, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I. Dagli, M. J. M. Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdeněk Sedláček, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K. Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, Andre Reis, Tugce Balci, Marleen Simon, Hester Y. Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M. Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A. Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R. Frank Kooy, Marije Meuwissen, Benjamin T. Cocanougher, Kathryn Taylor, Carolyn E. Pizoli, Marie T. McDonald, Philip James, Elizabeth R. Roeder, Rebecca Littlejohn, Nicholas A. Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther Nibbeling, Stephanie Baskin, Gwenaël L. E. Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth J. K. Bhoj, Laura M. Bryant
{"title":"Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals","authors":"Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly J. Clark, Emily L. Durham, Elizabeth M. Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Irene Valenzuela, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I. Dagli, M. J. M. Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdeněk Sedláček, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K. Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, Andre Reis, Tugce Balci, Marleen Simon, Hester Y. Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M. Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A. Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R. Frank Kooy, Marije Meuwissen, Benjamin T. Cocanougher, Kathryn Taylor, Carolyn E. Pizoli, Marie T. McDonald, Philip James, Elizabeth R. Roeder, Rebecca Littlejohn, Nicholas A. Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther Nibbeling, Stephanie Baskin, Gwenaël L. E. Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth J. K. Bhoj, Laura M. Bryant","doi":"10.1038/s41431-024-01659-y","DOIUrl":"10.1038/s41431-024-01659-y","url":null,"abstract":"","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":"32 8","pages":"1032-1032"},"PeriodicalIF":3.7,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11292024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141765821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-23DOI: 10.1038/s41431-024-01655-2
Isabelle R Chandler, Jesse T Brewer, Muhammad Danyal Ahsan, Tamar Nicole Soussana, Emily M Webster, Michelle Primiano, Ravi N Sharaf, Melissa K Frey
{"title":"Are employees ready to engage in genetic cancer risk assessment in the workplace setting?","authors":"Isabelle R Chandler, Jesse T Brewer, Muhammad Danyal Ahsan, Tamar Nicole Soussana, Emily M Webster, Michelle Primiano, Ravi N Sharaf, Melissa K Frey","doi":"10.1038/s41431-024-01655-2","DOIUrl":"https://doi.org/10.1038/s41431-024-01655-2","url":null,"abstract":"","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141751421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-22DOI: 10.1038/s41431-024-01658-z
Vincent Milon, Marie-Claire Malinge, Maud Blanluet, Marine Tessarech, Clarisse Battault, Sarah Prestwich, Béatrice Vary, Pierre Gueracher, Louis Legoff, Magalie Barth, Clara Houdayer, Agnès Guichet, Audrey Rousseau, Dominique Bonneau, Vincent Procaccio, Céline Bris, Estelle Colin
{"title":"Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.","authors":"Vincent Milon, Marie-Claire Malinge, Maud Blanluet, Marine Tessarech, Clarisse Battault, Sarah Prestwich, Béatrice Vary, Pierre Gueracher, Louis Legoff, Magalie Barth, Clara Houdayer, Agnès Guichet, Audrey Rousseau, Dominique Bonneau, Vincent Procaccio, Céline Bris, Estelle Colin","doi":"10.1038/s41431-024-01658-z","DOIUrl":"10.1038/s41431-024-01658-z","url":null,"abstract":"","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141747771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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