Publications
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).
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet 99, 1086-1105 (2016).
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology 87, 1442-1448 (2016).
STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome Biol 19, 121 (2018).
Severe neurodevelopmental disease caused by a homozygous TLK2 variant. Eur J Hum Genet 28, 383-387 (2020).
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med 22, 1478-1488 (2020).
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet 62, 243-252 (2017).
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Hum Mutat 41, 403-411 (2020).
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight 4, (2019).
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. Eur J Hum Genet 27, 1267-1273 (2019).
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy. Eur J Hum Genet 29, 61-66 (2021).
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly. Am J Hum Genet 105, 573-587 (2019).
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet 29, 816-826 (2021).
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat 39, 383-388 (2018).
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet 107, 727-742 (2020).
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).
matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat 39, 1827-1834 (2018).
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun 11, 2539 (2020).
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis 12, 173 (2017).
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science 366, 351-356 (2019).
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Clin Genet 97, 764-769 (2020).
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. Neuromuscul Disord 30, 310-314 (2020).
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 83, 1105-1124 (2018).
Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease. iScience 24, 101948 (2021).
and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol 29, 2123-2138 (2018).