Developing and Assessing a Scalable Digital Health Tool for Pretest Genetic Education in Patients With Early-Onset Colorectal Cancer: Mixed Methods Design by Jessica N Rivera Rivera, Moran Snir, Emilie Simmons, Tara Schmidlen, Misha Sholeh, Melinda Leigh Maconi, Carley Geiss, Hayden Fulton, Laura Barton, Brian D Gonzalez, Jennifer Permuth, Susan Vadaparampil

“… BackgroundNational guidelines recommend germline genetic testing (GT) for all patients with early-onset colorectal cancer. …”
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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

“…The second family's son was diagnosed with HI in infancy and genetic testing identified a heterozygous recessive ABCC8 variant. …”
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Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia by Jessica L. Sandy, Jessica L. Sandy, Jessica L. Sandy, Grant Betts, Jessica L. Harper, Suzanne M. Nevin, Suzanne M. Nevin, Suzanne M. Nevin, Rebecca Deans, Rebecca Deans, Rebecca Deans, Kristen A. Neville, Kristen A. Neville

“…Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families’ lived experiences with CAH and the couples’ subsequent fertility journey. …”
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Clinical features and genetic analysis of 15 Chinese children with dent disease by Qian Li, Zhenle Yang, Ruixian Zang, Suwen Liu, Lichun Yu, Jing Wang, Cong Wang, Xiaoyuan Wang, Shuzhen Sun

“…Protein electrophoresis and genetic testing can help to provide an early and correct diagnosis.…”
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Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinic... by Guanfeng Lin, Yang Yang, Zefu Chen, Sen Zhao, Yuchen Niu, You Du, Yiwei Zhao, Shengru Wang, Nan Wu, Jianguo Zhang

“…TACS was identified in genetic testing for CS. After propensity score matching, patients with TACS were matched with patients with NTACS according to sex, age, main curvature, classification, deformity location, surgical methods, fusion segment and number of fusions. …”
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Whole genome sequencing in early onset advanced heart failure by Erik Linnér, Tomasz Czuba, Olof Gidlöf, Jakob Lundgren, Entela Bollano, Maria Hellberg, Selvi Celik, Neha Pimpalwar, Philipp Rentzsch, Molly Martorella, Anders Gummesson, Olle Melander, Sebastian Albinsson, Göran Dellgren, Jan Borén, Anders Jeppsson, R. Thomas Lumbers, Sonia Shah, Johan Nilsson, Pradeep Natarajan, Tuuli Lappalainen, Malin Levin, Hans Ehrencrona, J. Gustav Smith

“…Abstract The genetic contributions to early onset heart failure (HF) are incompletely understood. Genetic testing in advanced HF patients undergoing heart transplantation (HTx) may yield clinical benefits, but data is limited. …”
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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

“…Abstract Background Despite a growing body of literature describing the geographic and sociodemographic distribution of cancer genetic testing, work focused on these domains in cancer genetic counseling is limited. …”
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Genetic counselling in the era of next generation sequencing by Diego Espada-Musitu, África Manero-Azua, Yerai Vado, Guiomar Perez de Nanclares

“…The ethical implications of parents giving consent to genetic testing in their offspring and the potential disclosure of genetic diseases for which there are limited therapeutic options are still under debate. …”
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Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning by D. E. Ivanoshchuk, A. B. Kolker, O. V. Timoshchenko, S. E. Semaev, E. V. Shakhtshneider

“…In 20–40 % of cases, molecular genetic testing fails to detect changes in the above genes. …”
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Association of pituitary neuroendocrine tumors and neurofibromatosis type 1: assessing causation versus coincidence. Case report by Mercedes Aguilar-Soto, Julia M. Zuarth-Vázquez, Laura Leyva-Figueroa, Karla Zarco-Ávila, Armando Gamboa-Domínguez, Aldo Eguiluz-Melendez, Laura C. Hernández-Ramírez

“…We also review the available data for and against a causal association between NF1 defects and pituitary tumors.MethodsOur patient was recruited via an ongoing prospective study of individuals with neuroendocrine neoplasms. Genetic testing was carried out by means of targeted next generation sequencing (NGS) and Sanger sequencing in blood and tumor DNA, respectively. …”
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Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families by Yang Cao, Xiaolong Zhang, Lan Lan, Danyang Li, Jin Li, Linyi Xie, Fen Xiong, Lan Yu, Xiaonan Wu, Hongyang Wang, Qiuju Wang

“…Methods Seven independent Chinese Han patients with mutations in FDXR and TWNK underwent comprehensive clinical evaluations, genetic testing, and bioinformatics analyses. Diagnostic assessments included auditory brainstem response and distortion product otoacoustic emissions, supplemented by other examinations. …”
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Case report: Clinical characteristics and Genetical analysis of HSD11B2 in three Chinese children with apparent mineralocorticoid excess: a case series by Yuan Ding, Yuan Ding, Ming Cheng, Ming Cheng, Bingyan Cao, Bingyan Cao, Min Liu, Min Liu, Xuyun Hu, Xuyun Hu, Di Wu, Di Wu, Di Wu

“…Through our analysis, four novel variants of the HSD11B2 gene were identified, thereby enhancing the genotype-phenotype spectrum associated with AME. Early genetic testing in patients suspected of having AME is beneficial for facilitating prompt diagnosis and the implementation of standardized treatment protocols. …”
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Estudio genético en adultos con glomeruloesclerosis focal y segmentaria by Melissa Pilco-Terán, Amir Shabaka, Mónica Furlano, Ana Tato Ribera, Isabel Galán Carrillo, Eduardo Gutiérrez, Roser Torra, Gema Fernández-Juárez

“…Genetic causes of FSGS present significant clinical variability, complicating their identification. Genetic testing is crucial to identify FSGS of genetic cause. …”
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THE АNAPA AMPELOGRAPHIC COLLECTION IS THE LARGEST CENTER OF VINE GENE POOL ACCUMULATION AND RESEARCH IN RUSSIA by M. I. Pankin, V. S. Petrov, A. A. Lukianova, E. T. Ilnitskaya, G. E. Nikulushkina, A. G. Kovalenko, V. А. Bolshakov

“…We carry out a molecular genetic testing of the accumulated gene pool and DNA-classification of varieties. …”
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Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol by Amali Mallawaarachchi, Hugh McCarthy, Thomas A. Forbes, Kushani Jayasinghe, Chirag Patel, Stephen I. Alexander, Tiffany Boughtwood, Jeffrey Braithwaite, Aron Chakera, Sam Crafter, Ira W. Deveson, Randall Faull, Trudie Harris, Lilian Johnstone, Matthew Jose, Anna Leaver, Melissa H. Little, Daniel MacArthur, Tessa Mattiske, Christine Mincham, Kathy Nicholls, Catherine Quinlan, Michael C. J. Quinn, Gopala Rangan, Jessica Ryan, Cas Simons, Ian Smyth, Madhivanan Sundaram, Peter Trnka, Laura Wedd, Erik Biros, Zornitza Stark, Andrew Mallett

“…Methods The KidGen National Kidney Genomics Study aims to increase diagnostic yield for those with suspected monogenic kidney disease without a diagnosis after standard diagnostic genetic testing. The program will seek to enrol up to 200 families from KidGen Collaborative kidney genetics clinics across Australia who have yet to receive conclusive diagnoses despite prior testing. …”
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Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot–Marie Tooth patients by Dace Pretkalnina, Dace Pretkalnina, Dace Pretkalnina, Elizabete Kenina, Elizabete Kenina, Linda Gailite, Dmitrijs Rots, Dmitrijs Rots, Kaj Blennow, Kaj Blennow, Henrik Zetterberg, Henrik Zetterberg, Henrik Zetterberg, Henrik Zetterberg, Henrik Zetterberg, Henrik Zetterberg, Viktorija Kenina, Viktorija Kenina, Viktorija Kenina

“…CMT diagnosis was approved by genetic testing. Disease severity was assessed through clinical evaluations using the CMT Neuropathy Score version 2 (CMTNSv2). …”
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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)

“…Expert recommendations emphasized offering tumor genetic testing to metastatic PCa patients eligible for PARP-i treatment and outlined criteria for genetic counseling and germline testing. …”
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Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy by Jiahui Mai, Jing Duan, Xiaoyu Chen, Liqin Liu, Dachao Liang, Tao Fu, Gang Lu, Wai Yee Chan, Xufeng Luo, Feiqiu Wen, Jianxiang Liao, Zhuo Li, Xinguo Lu

“…Abstract Objective Approximately 7% of individuals with dystrophinopathy remain undiagnosed at the genetic level using conventional genetic tests like multiplex ligation‐dependent probe amplification (MLPA) and next‐generation sequencing (NGS). …”
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Clinical integration of germline findings from a tumor testing precision medicine program by Maria Carolina Sanabria-Salas, Nina C. Anggala, Brittany Gillies, Kirsten M. Farncombe, Renee Hofstedter, Larissa Peck, Helia Purnaghshband, Laura Redondo, Emily Thain, Wei Xu, Peter Sabatini, Philippe L. Bedard, Raymond H. Kim

“…Abstract Background Integrating germline genetic testing (GGT) recommendations from tumor testing into hereditary cancer clinics and precision oncology trials presents challenges that require multidisciplinary expertise and infrastructure. …”
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Association between relative telomere length and a genetic variant of SIRT1 gene and age-related macular degeneration by L.K. Moshetova, O.P. Dmitrenko, O.I. Abramova, N.S. Karpova, K.I. Turkina, I.N. Saburina

“…</i> </p> <p> <i><b>Keywords</b>: age-related macular degeneration, relative telomere length, rs12778366, SIRT1 gene, age-related diseases, buccal epithelium, genetic testing.</i> </p> <p> <i><b>For citation:</b> Moshetova L.K., Dmitrenko O.P., Abramova O.I. et al. …”
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