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Publications

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Title First author Preprint Publication
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features Morad Ansari, Kamli Faour DOI
PMID

Human Genetics and Genomics Advances
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data Haowei Du, Zain Dardas, Angad Jolly PMID

Nucleic Acids Research
A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service Ellie Seaby DOI
PMID

Healthcare
Inferring compound heterozygosity from large-scale exome sequencing data Michael Guo, Laurent Francioli DOI
PMID

Nature Genetics
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation via impairment of retrograde vesicular trafficking PMID

J Inherit Metab Dis
Using a chat-based informed consent tool in large-scale genomic research Sarah K Savage DOI
PMID

Journal of the American Medical Informatics Association
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data Moriel Singer-Berk DOI
PMID

American Journal of Human Genetics
RARB-related cerebral palsy PMID

Genet Med
The complete sequence of a human Y chromosome Arang Rhie PMID

Nature
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Daniel Calame DOI
PMID

American Journal of Human Genetics
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions Monica Wojcik DOI
PMID

American Journal of Human Genetics
Advancing Understanding of Inequities in Rare Disease Genomics Jillian Serrano DOI
PMID

Clinical Therapeutics
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis Seth Berger DOI
PMID

Clinical Genetics
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders Afshin Saffari PMID

Brain
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain Laura Keehan PMID

American Journal of Medical Genetics Part A
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models Kiana Mohajeri PMID

American Journal of Human Genetics
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis Xuyu Qian PMID

Developmental Cell
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats Egor Dolzhenko PMID

Genome Medicine
Variant interpretation using population databases: Lessons from gnomAD Sanna Gudmundsson DOI
PMID

Human Mutation
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes Marcello Scala PMID

Brain
Recommendations for clinical interpretation of variants found in non-coding regions of the genome Jamie Ellingford PMID

Genome Medicine
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy Christine Bruels PMID

Annals of Clinical and Translational Neurology
TLR7 gain-of-function genetic variation causes human lupus Grant Brown PMID

Nature
seqr: A web-based analysis and collaboration tool for rare disease genomics Lynn Pais DOI
PMID

Human Mutation
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population Tadahiro Mitani PMID

American Journal of Human Genetics
From variant to function in human disease genetics Tuuli Lappalainen PMID

Science
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders Daniel Calame DOI
Candidate Gene Recommendations Jessica Chong DOI
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA Vijay Ganesh DOI
Impact of genome build on RNA-seq interpretation and diagnostics Rachel Ungar DOI
Exome CNV detection, analysis and curation across Broad cohorts Gabrielle Lemire DOI
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures Christopher M. Grochowski DOI
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency Marina Villamor-Paya DOI
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis Monica H Wojcik DOI
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project Sarah Stenton DOI