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Guissart, C. et al. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet 102, 744-759 (2018).
Jehee, F. S. et al. Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A 173, 2451-2455 (2017).
Jehee, F. S. et al. Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A 173, 2451-2455 (2017).
Yamamoto, S. et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).
Yamamoto, S. et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).
Yamamoto, S. et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).
Yamamoto, S. et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).
Yamamoto, S. et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).
Carvalho, C. M. B. et al. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet 95, 565-78 (2014).
Carvalho, C. M. B. et al. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet 95, 565-78 (2014).
Csukasi, F. et al. Dominant-negative SOX9 mutations in campomelic dysplasia. Hum Mutat 40, 2344-2352 (2019).
Csukasi, F. et al. Dominant-negative SOX9 mutations in campomelic dysplasia. Hum Mutat 40, 2344-2352 (2019).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Béziat, V. et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med 217, (2020).
Reis, L. M. et al. Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Clin Genet 99, 437-442 (2021).
Vivante, A. et al. Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. Pediatr Nephrol 34, 1607-1613 (2019).
Vivante, A. et al. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol 28, 2364-2376 (2017).
Vivante, A. et al. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol 28, 2364-2376 (2017).
Rickman, O. J. et al. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord 82, 84-86 (2021).
Rickman, O. J. et al. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord 82, 84-86 (2021).
Boyden, L. M. et al. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol 135, 1540-1547 (2015).
Boyden, L. M. et al. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol 135, 1540-1547 (2015).
Boyden, L. M. et al. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Hum Mol Genet 25, 348-57 (2016).
Boyden, L. M. et al. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Hum Mol Genet 25, 348-57 (2016).
Boyden, L. M. et al. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Hum Mol Genet 25, 348-57 (2016).
Mayle, R. et al. DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science 349, 742-7 (2015).
White, S. M. et al. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 108, 749-756 (2021).
White, S. M. et al. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 108, 749-756 (2021).
Rodríguez-Palmero, A. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).
Rodríguez-Palmero, A. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).
Rodríguez-Palmero, A. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).
Bahrambeigi, V. et al. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med 11, 80 (2019).
Woldegebriel, R. et al. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. Hum Mol Genet 29, 1426-1439 (2020).
Woldegebriel, R. et al. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. Hum Mol Genet 29, 1426-1439 (2020).
Aneichyk, T. et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 172, 897-909.e21 (2018).
Aneichyk, T. et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 172, 897-909.e21 (2018).
Aneichyk, T. et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 172, 897-909.e21 (2018).
Aneichyk, T. et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 172, 897-909.e21 (2018).
Aneichyk, T. et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 172, 897-909.e21 (2018).
Guo, H. et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun 10, 4679 (2019).
Guo, H. et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun 10, 4679 (2019).
Guo, H. et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun 10, 4679 (2019).
Sgourdou, P. et al. Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Sci Rep 7, 43708 (2017).
Sgourdou, P. et al. Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Sci Rep 7, 43708 (2017).

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