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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 -
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Natja Haag, Ene‐Choo Tan, Matthias Begemann, Lars Buschmann, Florian Kraft, Petra Holschbach, +11 more
15citations -
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism2024 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maike Franziska Dohrn, Güney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, +6 more
3citations -
Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives2023 Children article Biochemistry, Genetics and Molecular Biology Craniofacial Disorders and Treatments Open access
Ali Al Kaissi, SERGEY OLEGOVYCH RYABYKH, Farid Ben Chehida, Hamza Al Kaissi, Susanne Gerit Kircher, Franz Grill, +1 more
2citations -
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 -
Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders2022 Frontiers in Molecular Biosciences article Neuroscience Neuroscience and Neuropharmacology Research Open access
Florian P. Fischer, Ameya Sanjay Kasture, Thomas Hummel, Sonja Sučić
39citations -
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome2022 Neurology article Biochemistry, Genetics and Molecular Biology Ion Transport and Channel Regulation Open access
Maike Franziska Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Śmigiel, Alka Malhotra, +8 more
11citations -
Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel L2HGDH Mutation with a Concurrent RYR1 Variant2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Seyed Mohsen Dehghani, Bita Geramizadeh, Ralf Weiskirchen
0citations -
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals2023 Frontiers in Cell and Developmental Biology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C. Bramswig, +31 more
24citations -
Brain malformations and seizures by impaired chaperonin function of TRiC2024 Science article Biochemistry, Genetics and Molecular Biology Heat shock proteins research Open access
Florian Kraft, Piere Rodriguez-Aliaga, Kamil K. Zajt, Dimah Hasan, Ting-Ting Lee, Elisabetta Flex, +76 more
29citations -
FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells2022 Stem Cell Reports article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access cited by 2 patents
Nuwan C. Hettige, Huashan Peng, Hanrong Wu, Xin Zhang, Volodymyr Yerko, Ying Zhang, +14 more
18citations -
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 -
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 -
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 -
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans2021 preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Ida Elken Sønderby, Dennis van der Meer, Clara A. Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, +89 more
1citations -
In Vitro Generation and Characterization of The Wu Syndrome Model That Causes Mental Retardation in Neural Cell Lines2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Neuroscience and Neuropharmacology Research Open access
Sumeyye Seher Karaman, Tuba Sevik, Selin Akdemir, Esra Karadeli, Dilay Yalcin, Buse Baran, +5 more
0citations -
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Antonio Vitobello, Benoît Mazel, Vera G. Lelianova, Alice Zangrandi, Evelina Petitto, Jason Suckling, +34 more
49citations