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2018
Di Donato, N. et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 20, 1354-1364 (2018).
Di Donato, N. et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 20, 1354-1364 (2018).
Di Donato, N. et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 20, 1354-1364 (2018).
Hermle, T. et al. and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol 29, 2123-2138 (2018).
Hermle, T. et al. and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol 29, 2123-2138 (2018).
Tan, K. Li et al. Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Dev Cell 45, 226-244.e8 (2018).
Craiglow, B. G. et al. CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. J Am Acad Dermatol 79, 487-494 (2018).
Scholl, U. I. et al. CLCN2 chloride channel mutations in familial hyperaldosteronism type II. Nat Genet 50, 349-354 (2018).
Dolman, L. et al. ClinGen advancing genomic data-sharing standards as a GA4GH driver project. Hum Mutat 39, 1686-1689 (2018).
Lumaka, A. et al. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A 176, 1897-1909 (2018).
Wiszniewski, W. et al. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet 26, 1121-1131 (2018).
Hoang, T. T. et al. The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One 13, e0191319 (2018).
Oates, E. C. et al. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 83, 1105-1124 (2018).
Oates, E. C. et al. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 83, 1105-1124 (2018).
Oates, E. C. et al. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 83, 1105-1124 (2018).
Gregor, A. et al. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. Am J Hum Genet 103, 305-316 (2018).
Gregor, A. et al. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. Am J Hum Genet 103, 305-316 (2018).
Gregor, A. et al. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. Am J Hum Genet 103, 305-316 (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).
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).
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).
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).
Berrios, C. et al. Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results. J Genet Couns 27, 263-273 (2018).
Martinelli, S. et al. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet 102, 309-320 (2018).
Santos-Cortez, R. Lyn P. et al. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet 103, 679-690 (2018).
Santos-Cortez, R. Lyn P. et al. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet 103, 679-690 (2018).
Santos-Cortez, R. Lyn P. et al. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet 103, 679-690 (2018).
Santos-Cortez, R. Lyn P. et al. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet 103, 679-690 (2018).
Santos-Cortez, R. Lyn P. et al. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet 103, 679-690 (2018).
Santos-Cortez, R. Lyn P. et al. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet 103, 679-690 (2018).
Santos-Cortez, R. Lyn P. et al. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet 103, 679-690 (2018).
Bramswig, N. C. et al. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum Genet 137, 753-768 (2018).
Bramswig, N. C. et al. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum Genet 137, 753-768 (2018).
M Poli, C. et al. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet 102, 1126-1142 (2018).
Marin-Valencia, I. et al. A homozygous founder mutation in associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. J Med Genet 55, 48-54 (2018).
Marin-Valencia, I. et al. A homozygous founder mutation in associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. J Med Genet 55, 48-54 (2018).
Loh, P. - R. et al. Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. Nature 559, 350-355 (2018).
Guemez-Gamboa, A. et al. Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. Ann Neurol 84, 638-647 (2018).
Shashi, V. et al. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J 37, (2018).
Shashi, V. et al. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J 37, (2018).
Guo, D. - C. et al. LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. Am J Hum Genet 102, 706-712 (2018).
Guo, D. - C. et al. LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. Am J Hum Genet 102, 706-712 (2018).
Guo, D. - C. et al. LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. Am J Hum Genet 102, 706-712 (2018).
Grochowski, C. M. et al. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat 39, 939-946 (2018).
Arachchi, H. et al. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat 39, 1827-1834 (2018).
Li, L. et al. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet 14, e1007504 (2018).
Li, L. et al. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet 14, e1007504 (2018).
Braun, D. A. et al. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest 128, 4313-4328 (2018).
Ruiz-García, R. et al. Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol 142, 605-617.e7 (2018).

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