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Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Emiliano Giardina, Pilar Camaño, Sarah Burton‐Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, +15 more
48citations -
Inherited cases of CNOT3 ‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Robert Meyer, Matthias Begemann, Stephanie Demuth, Florian Kraft, Daniela Dey, Herdit M. Schüler, +6 more
25citations -
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Luisa Marsili, Eline Overwater, Nadine Hanna, Geneviève Baujat, Marieke J.H. Baars, Cathérine Boileau, +19 more
24citations -
A cross‐sectional study on fatigue, anxiety, and symptoms of depression and their relation with medical status in adult patients with M arfan syndrome. Psychological consequences in M arfan syndrome2022 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Kim Graaumans, Maarten Groenink, Aeilko Having Zwinderman, Roland R.J. van Kimmenade, Arthur J.H.A. Scholte, Maarten P. van den Berg, +6 more
20citations -
upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Tina Duelund Hjortshøj, Melodi Yusibova, Morten Dunø, Marie Balslev‐Harder, Karen Grønskov, Johanna M. van Hagen, +4 more
13citations -
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Francesca Furia, Amanda M. Levy, Miel Theunis, Michael J. Bamshad, Meghan N. Bartos, Emilia K. Bijlsma, +30 more
8citations -
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 ( H19 / IGF2 : TSS‐DMR ) in 11p15.52020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting
Thomas Eggermann, Florian Kraft, Katja Kloth, Eva Klopocki, Irina Hüning, Maja Hempel, +1 more
7citations -
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Dmitrijs Rots, Kathleen Rooney, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Rolph Pfundt, +18 more
7citations -
Genetic clinicians' confidence in BOADICEA comprehensive breast cancer risk estimates and counselees' psychosocial outcomes: A prospective study2022 Clinical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anne Brédart, Antoine De Pauw, Anja Tüchler, Inge M. M. Lakeman, Amélie Anota, Kerstin Rhiem, +6 more
5citations -
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Luise Kessler, Jeremias Krause, Florian Kraft, Asmaa K. Amin, György Fekete, Anna Lengyel, +7 more
3citations -
Expanding the Genetic and Phenotypic Spectrum of POLRMT ‐Related Mitochondrial Disease2025 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Miriam Elbracht, +14 more
3citations -
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 -
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, Heike Kölbel, David Muhmann, Ana Töpf, +10 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
0citations
19 results