KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome. Hum Mol Genet. 2025 May 27. View KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome. Abstract

X-linked competition - implications for human development and disease. Nat Rev Genet. 2025 May 12. View X-linked competition - implications for human development and disease. Abstract

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. Abstract

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly. Am J Hum Genet. 2024 Dec 05; 111(12):2693-2706. View Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly. Abstract

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024 Apr 11; 5(2):100273. View Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. Abstract

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. medRxiv. 2023 Sep 28. View Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. Abstract

Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 08 03; 110(8):1229-1248. View Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Abstract

Beyond the exome: what's next in diagnostic testing for Mendelian conditions. ArXiv. 2023 Jan 18. View Beyond the exome: what's next in diagnostic testing for Mendelian conditions. Abstract

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models. Am J Hum Genet. 2022 11 03; 109(11):2049-2067. View Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models. Abstract

A cross-disorder dosage sensitivity map of the human genome. Cell. 2022 08 04; 185(16):3041-3055.e25. View A cross-disorder dosage sensitivity map of the human genome. Abstract

Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 04; 24(4):784-797. View Centers for Mendelian Genomics: A decade of facilitating gene discovery. Abstract

Free, online videos for distance learning in medical genetics. Eur J Med Genet. 2020 Sep; 63(9):103983. View Free, online videos for distance learning in medical genetics. Abstract

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347. View Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Abstract

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 01; 182(1):189-194. View Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Abstract

The Genetics of Pneumothorax. Am J Respir Crit Care Med. 2019 06 01; 199(11):1344-1357. View The Genetics of Pneumothorax. Abstract

Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 04; 27(4):563-573. View Genetic architecture of laterality defects revealed by whole exome sequencing. Abstract

Familial pneumothorax: towards precision medicine. Thorax. 2018 03; 73(3):270-276. View Familial pneumothorax: towards precision medicine. Abstract

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648. View Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Abstract

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245. View Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. Abstract

Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. Am J Med Genet A. 2016 11; 170(11):3028-3032. View Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. Abstract

Adolescents, Family History, and Inherited Disease Risk: An Opportunity. Pediatrics. 2016 08; 138(2). View Adolescents, Family History, and Inherited Disease Risk: An Opportunity. Abstract

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016 Feb 02; 8(1):13. View A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Abstract

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 Jan; 4(1):77-94. View Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Abstract

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing. Genom Data. 2014 Dec; 2:144-146. View Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing. Abstract

Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 Dec 20; 23(25):6797-806. View Analysis of the ABCA4 genomic locus in Stargardt disease. Abstract

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014 Aug 07; 95(2):143-61. View The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Abstract

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394. View Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Abstract

Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 Oct; 34(10):1439-48. View Detection of clinically relevant copy number variants with whole-exome sequencing. Abstract

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94. View Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Abstract

Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54. View Incidental copy-number variants identified by routine genome testing in a clinical population. Abstract

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet. 2012 Dec; 20(12):1240-7. View Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Abstract

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. Am J Med Genet A. 2011 Aug; 155A(8):2024-7. View Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. Abstract

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med. 2011 Jun; 13(6):582-92. View Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Abstract

Genomic medicine and neurological disease. Hum Genet. 2011 Jul; 130(1):103-21. View Genomic medicine and neurological disease. Abstract

Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42. View Detection of clinically relevant exonic copy-number changes by array CGH. Abstract