Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. Am J Hum Genet 102, 832-844 (2018).
Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees. Circ Genom Precis Med 11, e002038 (2018).
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Am J Hum Genet 103, 296-304 (2018).
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest 128, 4313-4328 (2018).
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. Am J Hum Genet 102, 1143-1157 (2018).
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat 39, 383-388 (2018).
A new NBIA patient from Turkey with homozygous C19ORF12 mutation. Acta Neurol Belg (2018). doi:10.1007/s13760-018-1026-5
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Hum Mutat 39, 378-382 (2018).
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet 137, 735-752 (2018).
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. Am J Med Genet A (2018). doi:10.1002/ajmg.a.61000
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet 19, 122 (2018).
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve (2018). doi:10.1002/mus.26378
Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. J Clin Immunol 38, 753-756 (2018).
Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis. J Ophthalmol 2018, 2984934 (2018).
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). J Med Genet 55, 675-684 (2018).
Phenotypic expansion in - a common cause of intellectual disability in females. Ann Clin Transl Neurol 5, 1277-1285 (2018).
The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A 176, 1315-1326 (2018).
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Ann N Y Acad Sci 1413, 119-125 (2018).
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. J Pediatr Genet 7, 164-173 (2018).
Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING. Cell Rep 23, 1112-1123 (2018).
Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet 178, 432-439 (2018).
The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia. Hum Mol Genet (2018). doi:10.1093/hmg/ddy110
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol 83, 1133-1146 (2018).
STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome Biol 19, 121 (2018).
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. Hum Genet 137, 471-478 (2018).
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet 102, 858-873 (2018).
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet 27, 3801-3812 (2018).
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int 93, 204-213 (2018).
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 71, 691-699 (2018).
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol 29, 2348-2361 (2018).
Whole-exome sequencing identifies mutations in in a mild form of Carey-Fineman-Ziter syndrome. Neurol Genet 4, e226 (2018).
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res 97, 49-59 (2018).
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 102, 27-43 (2018).
Ximmer: a system for improving accuracy and consistency of CNV calling from exome data. Gigascience 7, (2018).
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A 173, 1066-1070 (2017).
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion 34, 84-90 (2017).
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome. J Clin Invest 127, 4257-4269 (2017).
Asprosin is a centrally acting orexigenic hormone. Nat Med 23, 1444-1453 (2017).
Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest 127, 306-320 (2017).
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet 49, 457-464 (2017).
Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease. Eur J Hum Genet 25, 530-537 (2017).
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. Am J Med Genet A 173, 2275-2279 (2017).
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. Neuromuscul Disord 27, 861-872 (2017).
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet 54, 47-53 (2017).
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 49, 1593-1601 (2017).
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A 173, 733-739 (2017).
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 100, 352-363 (2017).
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet 101, 716-724 (2017).
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proc Natl Acad Sci U S A 114, E7341-E7347 (2017).