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Phenotypic variability, not noise, accounts for most of the cell-to-cell heterogeneity in IFN-γ and oncostatin M signaling responses2022 Science Signaling article Biochemistry, Genetics and Molecular Biology Gene Regulatory Network Analysis Open access
Karolina Ewa Zakrzewska, Jarosław Walczak, Karol Nienałtowski, Gerhard Müller‐Newen, Abhyudai Singh, Michał Komorowski
35citations -
Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series2026 Journal of Neurodevelopmental Disorders article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Salvatore Savasta, Francesco Fabrizio Comisi, Giovanni Battista Dell’Isola, Gabriele Di Pasquale, Ivy Johnson, Isabella Herman, +8 more
1citations -
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Emily L. Durham, Elizabeth M. Gonzalez, Sarina M. Smith, +80 more
8citations -
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Sheng‐Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha Saad Zaki, Huda Shujaa Aldeen, +31 more
14citations -
Intraspecific variability in heat resistance of fungal conidia2022 Food Research International article Biochemistry, Genetics and Molecular Biology Microbial Inactivation Methods Open access
Tom van den Brule, Maarten Punt, Sjoerd J. Seekles, Frank J. J. Segers, Jos A. M. P. Houbraken, Wilma C. Hazeleger, +5 more
42citations -
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences2022 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Charlotte C. Kruijt, Libe Gradstein, Arthur A B Bergen, Ralph J. Florijn, Benoı̂t Arveiler, Eulalie Lasseaux, +10 more
26citations -
Further delineation of phenotypic spectrum of SCN2A ‐related disorder2021 American Journal of Medical Genetics Part A article Medicine Epilepsy research and treatment Open access
Diana Baralle, Christopher Bennett, Tracy Ann Briggs, Emilia K. Bijlsma, Jill Clayton‐Smith, Panayiotis Constantinou, +13 more
10citations -
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, Karla A. Peña‐Guerra, +90 more
35citations -
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 -
Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes2024 Diabetes article Biochemistry, Genetics and Molecular Biology Diabetes and associated disorders Open access
Amber M Luckett, Gareth Hawkes, Harry Green, Elisa De Franco, William Hagopian, Bart O. Roep, +13 more
8citations -
Hypoxia induces phenotypic and metabolic shifts in endophytic Flavobacterium sp. 982025 The ISME Journal article Agricultural and Biological Sciences Plant-Microbe Interactions and Immunity Open access
Xinya Pan, Daan A. Weits, Somayah S. Elsayed, Lina M. Bayona, Gilles P. van Wezel, Roeland L. Berendsen, +2 more
3citations -
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development2024 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Lloyd J. W. Tack, Martine Cools, +67 more
42citations -
Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome2023 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Bioinformatics and Genomic Networks Open access
Woosub Shin, Martina Kutmon, Eleni Mina, Thérèse van Amelsvoort, Chris T. Evelo, Friederike Ehrhart
2citations -
Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions2025 Clinical Endocrinology article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lucia Sentchordi, Francisca Díaz, Silvia Modamio‐Høybjør, Julián Nevado, Flavia Machado‐Fernandes, Atilano Carcavilla, +11 more
2citations -
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 -
Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies2021 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Nicoline Elisabeth Schalij-Delfos, Herman E. Talsma, +8 more
24citations -
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome2022 American Journal of Medical Genetics Part C Seminars in Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Gerarda Cappuccio, Simona Brillante, Roberta Tammaro, Michele Pinelli, Margherita Lucia De Bernardi, Maria Grazia Gensini, +11 more
9citations -
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome2021 Molecular Syndromology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Anna Lengyel, Éva Pinti, Thomas Eggermann, György Fekete, Irén Haltrich
8citations