Not finding it? Sign in to also search OpenAlex live.
-
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort2020 Pediatric Neurology article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Mark R. Garrelfs, Sanami Takada, Erik‐Jan Kamsteeg, Sjoert Pegge, Grazia M. S. Mancini, Marc Engelen, +6 more
15citations -
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 -
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 -
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié‐Bitach, Kelly L. Gilmore, Christèle Dubourg, +48 more
22citations -
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort2023 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
0citations -
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G2026 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Rocío N. Villar‐Quiles, Aileen Reghan Foley, Corinne Métay, Rotem Orbach, Sandra C. Donkervoort, Beatrice Labella, +22 more
0citations -
Delineating the molecular and phenotypic spectrum of the SETD1B -related syndrome2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, +91 more
0citations -
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 -
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 -
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 -
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 -
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Sally Nijim, Mimi Kim, Melissa Denish, Michael V. Gonzalez, Joseph Zinski, Claudine Rieubland, +90 more
1citations -
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective2021 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Xuan‐Thanh‐An Nguyen, Hind Almushattat, Ine Strubbe, Michalis Georgiou, Catherina H. Z. Li, Mary J. van Schooneveld, +8 more
17citations -
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals2024 European Journal of Human Genetics erratum 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
2citations -
Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.2025 Apollo (University of Cambridge) article Medicine Pulmonary Hypertension Research and Treatments Open access
Carrie L. Welch, Meriel McEntagart, Shahin Moledina, Emilia M. Swietlik, Chao Hou, Lu Qiao, +15 more
0citations -
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 -
Continuous indices to assess the phenotypic spectrum of kidney transplant rejection2025 Nature Communications article Medicine Renal Transplantation Outcomes and Treatments Open access
Thibaut Vaulet, Priyanka Joseph Koshy, Karolien Wellekens, Olivier Aubert, Charlotte Bottomley, Jasper Callemeyn, +25 more
25citations -
Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options2025 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Susanna M. I. Goorden, Désirée Y. van Haaften–Visser, Maria M. Trętowicz, Ramon Bonte, Elly Bogaerts, Sandrien Vrieswijk, +9 more
2citations