Papers matching “genotype-phenotype correlation” 51
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Structural mapping of GABRB3 variants reveals genotype-phenotype correlations2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Pérez‐Palma, Élise Schaefer, +41 more
0citations -
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann
1citations -
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann
0citations -
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD2025 Brain article Pharmacology, Toxicology and Pharmaceutics Pharmacological Effects of Natural Compounds Open access
Andrea Cortese, Maike Franziska Dohrn, Riccardo Curró, Sara Negri, Petra Laššuthová, Chiara Pisciotta, +73 more
12citations -
Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants2021 Kidney International article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Kathrin Burgmaier, Leonie Violetta Brinker, Florian Erger, Bodo Bernhard Beck, Marcus R. Benz, Carsten Bergmann, +91 more
92citations -
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Pérez‐Palma, Élise Schaefer, +40 more
23citations -
AUTS2-related syndrome: Insights from a large European cohort2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Lorenzo Loberti, Loredaria Adamo, Giulia Casamassima, Anne Destrèe, Nicola Brunetti‐Pierri, David Geneviève, +66 more
6citations -
Deciphering DST -associated disorders: biallelic variants affecting DST-b cause a congenital myopathy2025 Brain article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Melanie T. Achleitner, +45 more
3citations -
Infantile-Onset Glutaric Acidemia Type I with Mild Hepatopathy: Clinical, Biochemical, and Molecular Characterization of an Iranian Pediatric Cohort2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Bita Geramizadeh, Seyed Mohsen Dehghani, SOROUR INALOO, Ralf Weiskirchen
0citations -
FOXN1 immunodeficiency detected by TREC-based newborn screening - A challenge of management?2026 Immunology Letters article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lea Graafen, Arndt Borkhardt, Julian Reiß, Stavrieta Soura, Hans‐Jürgen Laws, Markus Uhrberg, +5 more
1citations -
Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases2026 Cellular and Molecular Life Sciences article Biochemistry, Genetics and Molecular Biology Nuclear Structure and Function Open access
Daniela Anne Braun, Ramona Jühlen, Vanessa Krausel, Wolfram Antonin
1citations -
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +93 more
56citations -
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism2025 European Journal of Medical Genetics article Neuroscience Hereditary Neurological Disorders Open access
Barbora Lauerová, Radim Mazanec, Katja Eggermann, Dana Šafka Brožková, Annette Lischka, Pavel Seeman, +2 more
2citations -
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +94 more
15citations -
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals2025 Orphanet Journal of Rare Diseases article Medicine Artificial Intelligence in Healthcare and Education Open access
Behnam Javanmardi, Rebekah L. Waikel, Tinatin Tkemaladze, Shahida Moosa, Alexander Küsshauer, Jean Tori Pantel, +4 more
3citations -
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Shiva Ganesan, Sarah McKeown Ruggiero, Shridhar Parthasarathy, Peter D. Galer, David J. Lewis-Smith, Ian McSalley, +10 more
2citations