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The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK22024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
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Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
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13citations -
Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Amihood Singer, Annemieke M Aartsma-Rus, Julia Grinshpun‐Cohen, Lena Sagi‐Dain
11citations -
Analysis of laboratory reporting practices using a quality assessment of a virtual patient2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
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10citations -
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Nour M. Elkhateeb, Renarta Crookes, Michael Spiller, Lisa Pavinato, Flavia Palermo, Alfredo Brusco, +61 more
7citations -
AUTS2-related syndrome: Insights from a large European cohort2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
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6citations -
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lisa M. van den Bersselaar, Judith M. A. Verhagen, Jos A. Bekkers, Marlies J. E. Kempers, Arjan C. Houweling, Marieke J.H. Baars, +13 more
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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J.M. Dingemans, Dmitrijs Rots, +44 more
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Toward an integrated resource for pharmacogenomics (PGx): Survey findings from the genomic medicine communities2025 Genetics in Medicine article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
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Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
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Interventional genomics: Bridging germline diagnosis and therapeutic action2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Petros Giannikopoulos, Marlen C. Lauffer, Christian R. Marshall, Gregory Costain, Zhiyv Niu, David Bick, +5 more
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Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Valentina Galassi Deforie, Reza Maroofian, Irem Karagoz, Annie Godwin, Ebtehal Al Sheikh, Gaia Gestri, +60 more
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The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a “virtual patient”2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
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Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maria Asif, Arwa Ishaq A. Khayyat, Salem Alawbathani, Uzma Abdullah, Anne Sanner, Theodoros Georgomanolis, +17 more
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A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
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