Papers matching “loss-of-function mutations” 172
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Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Ariane Kröll‐Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Élise Schaefer, Sophie Scheidecker, +81 more
1citations -
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA22020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Romy L.S. Mesman, Fabienne M.G.R. Calléja, Miguel de la Hoya, Peter Devilee, Christi J. van Asperen, Harry Vrieling, +1 more
40citations -
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica Rose Denhoff, +48 more
1citations -
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica Rose Denhoff, +49 more
3citations -
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature2022 Journal of the Endocrine Society article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Peter Lauffer, Eveline Boudin, Daniëlle C M van der Kaay, Saskia Koene, Arie van Haeringen, Vera van Tellingen, +5 more
11citations -
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants2021 Neurogenetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Katja Kloth, Bernarda Lozić, Julia Tagoe, Mariëtte J.V. Hoffer, Amelie T. van der Ven, Hölger Thiele, +6 more
28citations -
Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA22020 Genetics in Medicine erratum Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Romy L.S. Mesman, Fabienne M.G.R. Calléja, Miguel de la Hoya, Peter Devilee, Christi J. van Asperen, Harry Vrieling, +1 more
0citations -
Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, +15 more
3citations -
GERMLINE LOSS-OF-FUNCTION MUTATIONS IN MDM4 CAUSE A NEW BONE MARROW FAILURE SYNDROME WITH TP53- DEPENDENT HEMATOPOIETIC CELL DEATH2023 EJC Paediatric Oncology article Biochemistry, Genetics and Molecular Biology Blood disorders and treatments Open access
Richa Sharma, Senthil Velan Bhoopalan, Robert Meyer, Lei Han, Shondra M. Pruett‐Miller, Claudia Khurana, +4 more
0citations -
Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I2025 The Journal of Clinical Endocrinology & Metabolism article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Lauren D Punt, Sander Kooijman, Noa J M Mutsters, Kaiming Yue, Daniëlle C M van der Kaay, Vera van Tellingen, +23 more
12citations -
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia2024 International Journal of Molecular Sciences article Medicine Hemoglobinopathies and Related Disorders Open access
Cornelis L. Harteveld, Ahlem Achour, Nik Fatma Fairuz Nik Mohd Hasan, Jelmer Legebeke, Sandra G.J. Arkesteijn, Jeanet ter Huurne, +11 more
8citations -
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy2021 Journal of Clinical Investigation article Biochemistry, Genetics and Molecular Biology Congenital heart defects research Open access
Najim Lahrouchi, Alex V. Postma, Christian M. Salazar, Daniel M. De Laughter, Fleur V.Y. Tjong, Lenka Piherová, +49 more
30citations -
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling2020 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology TGF-β signaling in diseases Open access
Yuh‐Charn Lin, Marcello Niceta, Valentina Muto, Barbara Vona, Alistair T. Pagnamenta, Reza Maroofian, +40 more
70citations -
Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Genetic factors in colorectal cancer Open access
Claire Palles, Edward Chew, Judith E. Grolleman, Sara Galavotti, Christoffer Flensburg, Erik A. M. Jansen, +53 more
3citations -
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, +75 more
41citations -
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants2023 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Soha Sewani, Mahshid Sababi Azamian, Bryce A. Mendelsohn, Frédéric Tran Mau‐Them, Manon Réda, Sophie Nambot, +17 more
16citations