Genetic counselling in the era of next generation sequencing by Diego Espada-Musitu, África Manero-Azua, Yerai Vado, Guiomar Perez de Nanclares

“…The clinical application of NGS has raised many challenges in genetic counselling for families in terms of the interpretation of test results and incidental findings, as well as technical limitations in the event of inconclusive results. …”
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Case Report: The importance of genetic counseling for families with hyperinsulinism by Victoria R. Sanders, Victoria R. Sanders, Katherine Lord, Katherine Lord, Katherine Lord, Winnie M. Sigal, Winnie M. Sigal, Winnie M. Sigal, Heather McKnight, Heather McKnight, N. Scott Adzick, N. Scott Adzick, Lisa J. States, Lisa J. States, Tricia Bhatti, Tricia Bhatti, Diva D. De Leon, Diva D. De Leon, Diva D. De Leon

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Genetic Counselling and Family in IBD: 30 years' Experience at the Cleveland Clinic by WM Michener, M Caulfield, RG Farmer, R Wyllie, K Cotman, J Hertzer

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Painting a portrait: Analysis of national health survey data for cancer genetic counseling by Monica H. Stamp, Ora K. Gordon, Christopher P. Childers, Kimberly K. Childers

Subjects: “…genetic counseling…”
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Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling by Kaili Yin, Mengmeng Li, Hanzhe Zhang, Jiazhen Chang, Qingwei Qi, Xiya Zhou, Jiangshan Guo, Yaru Wang, Xuequn Mao, Na Hao, Yulin Jiang

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Observational study on Lifestyle Behaviours and Nutrition in individuals undergoing genetic counseling for breast or colorectal cancer risk by Lea Godino, Donatella Fabbro, Benedetta Bertonazzi, Daniela Turchetti

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The application of the facial analysis program Face2Gene in a single genetic counseling center: a retrospective study by Dinnar Yahya, Milena Stoyanova, Mari Hachmeriyan, Mariya Levkova

“…In order to assess its accuracy in real clinical context, we applied F2G to patients from our genetic counseling center. Results We randomly selected 151 children, who were referred to genetic counseling because of dysmorphic features and later diagnosed with a particular genetic condition. …”
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Identification of a pathogenic SDHD mutation in a Chinese family with hereditary head and neck paraganglioma: implications for genetic counseling and management by Pu Wang, Liming Gao, Wenyang Zhang, Rui Guo, Yin Xia

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Evaluating and Enhancing Japanese Large Language Models for Genetic Counseling Support: Comparative Study of Domain Adaptation and the Development of an Expert-Evaluated Dataset by Takuya Fukushima, Masae Manabe, Shuntaro Yada, Shoko Wakamiya, Akiko Yoshida, Yusaku Urakawa, Akiko Maeda, Shigeyuki Kan, Masayo Takahashi, Eiji Aramaki

“…Large language models (LLMs) have emerged as a potential solution for augmenting support in genetic counseling tasks. Despite the potential, Japanese genetic counseling LLMs (JGCLLMs) are underexplored. …”
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Genetic counselling and prenatal diagnosis of a de novo chromosomal 10q11.21q11.23 duplication associated with normal phenotype by Lijun Liu, Guiying Yu, Tou Tou, Tianzi Wu, Fen Li

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Prenatal diagnosis and genetic counselling of a rare maternal inherited chromosome 1q21.1q21.2 microduplication with no phenotypic abnormalities by Mingxia Xie, Xinfang He, Tou Tou, Ruixue Liu

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Investigating knowledge and attitudes toward genetic testing and counseling among palestinians by Mustafa Ghanim, Maha Rabayaa, Malik Alqub, Ahmad Hanani, Mohammad Abuawad, Belal Rahhal, Shurouq Qadous, Myassar Barahmeh, Sameeha Atout, Saad Al-Lahham, Aseel Aref, Majdi Dwikat, Samar Alkhaldi, Ahmad Makhamreh

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The dilemma of X-linked agammaglobulinemia carriers by Federica Pulvirenti, MD, PhD, Cinzia Milito, MD, PhD, Francesco Cinetto, MD, PhD, Giulia Garzi, MD, Germano Sardella, MD, Giuseppe Spadaro, MD, Francesca Lippi, MD, Valentina Guarnieri, MD, Bianca Laura Cinicola, MD, Maria Carrabba, MD, PhD, Daniele Guadagnolo, MD, Giovanna Fabio, MD, Baldassarre Martire, MD, Caterina Cancrini, MD, PhD, Giulia Lanzoni, MD, Andrea Finocchi, MD, PhD, Gigliola Di Matteo, MD, PhD, Eva Pompilii, MD, Simona Ferrari, BD, PhD, Isabella Quinti, MD, PhD

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Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies by Giulia Mammone, Simona Borghesi, Nicolò Borsellino, Anna Caliò, Roberta Ceccarelli, Alessia Cimadamore, Giario Natale Conti, Laura Cortesi, Rolando Maria D’Angelillo, Gaetano Facchini, Lorena Incorvaia, Alberto Lapini, Luigi Mearini, Giovanni Pappagallo, Paolo Prontera, Daniela Turchetti, Grazia Sirgiovanni, Sergio Bracarda, on behalf of the Italian Society of Uro-Oncology (SIUrO)

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Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients by Esra ARSLAN ATES, Ayberk TURKYILMAZ, Ceren ALAVANDA, Ozlem YILDIRIM, Ahmet Ilter GUNEY

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Primary amenorrhoea - cytogenetic study in 40 Indian women by Byapti Banerjee, Atreyee Dutta, Sanchita Roy, Ajanta Halder

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Frequency of Chromosome Disorders In Patients with Sperm Number Anomaly by Mehmet Niyaz, Egzon Abdullahı, Zerrin Yılmaz Çelik

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Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses by Yuying Zhu, Ke Wu, Hanying Wen

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An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes by Lauren Boucher, Berkley Nestler, Daniel Groepper, John Quillin, David Deyle, Colin M.E. Halverson

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De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency by Laura Batlle-Masó, Laura Batlle-Masó, Laura Batlle-Masó, Janire Perurena-Prieto, Janire Perurena-Prieto, Janire Perurena-Prieto, Laura Viñas-Giménez, Laura Viñas-Giménez, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Johana Gil-Serrano, Johana Gil-Serrano, Johana Gil-Serrano, Mar Guilarte, Mar Guilarte, Mar Guilarte, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

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