Journal of Medical Genetics

Consolidation of the clinical and genetic definition of a SOX4- related neurodevelopmental syndrome.  59:1058-1068. 2022

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability 2022

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease 2021

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: A consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.  57:542-551. 2020

Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease.  57:38-47. 2020

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: Consensus guidelines for testing a child without malignancy.  56:53-62. 2019

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.  54:93-99. 2017

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: Data from the Fabry Registry.  53:495-502. 2016

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.  53:123-126. 2015

Antiproteinuric therapy and Fabry nephropathy: Factors associated with preserved kidney function during agalsidase-beta therapy.  52:860-866. 2015

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with fabry disease.  52:353-358. 2015

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in rett syndrome.  51:152-158. 2014

Rare TP53 genetic variant associated with glioma risk and outcome.  49:420-421. 2012

OTX2 mutations contribute to the otocephaly-dysgnathia complex.  49:373-379. 2012

Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts.  49:90-95. 2012

Updating the profile of C-terminal MECP2 deletions in Rett syndrome.  47:242-248. 2010

Factors associated with HD CAG repeat instability in Huntington disease.  44:695-701. 2007

Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1..  44. 2007

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.  43:28-38. 2006

Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1..  42. 2005

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.  42:336-349. 2005

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome..  42. 2005

Large scale association analysis for identification of genes underlying premature coronary heart disease: Cumulative perspective from analysis of 111 candidate genes.  41:334-341. 2004

Association of genetic variants in the HDL receptor, SR-B1, with abnormal lipids in women with coronary artery disease.  40:453-458. 2003

Independent NF1 mutations in two large families with spinal neurofibromatosis [1].  40:122-126. 2003

Evolution and expression of FOXL2 [1].  39:916-921. 2002

Changes in frequencies of heterozygous thermolabile 5, 10-methylenetetrahydrofolate reductase gene in fetuses with neural tube defects [8].  39:366-367. 2002

A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation [4].  39:128-132. 2002

FOXL2 mutation screening in a large panel of POF patients and XX males..  39. 2002

Comorbidity of 5,10-methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk for neural tube defects [3].  37:949-951. 2000

Growth in North American white children with neurofibromatosis 1 (NF1).  37:933-938. 2000

Identification of a recombination event narrowing the Lafora disease gene region.  34:590-591. 1997

Chromosome 1p terminal deletion: Report of new findings and confirmation of two characteristic phenotypes.  32:619-622. 1995

Gametic but not somatic instability of CAG repeat length in Huntington's disease.  30:982-986. 1993

Considerations in using linkage analysis as a presymptomatic test for Huntington's disease.  25:577-588. 1988

A de novo 3p;8p unbalanced translocation resulting in partial dup(3p) and partial del(8p).  24:174-177. 1987

Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.  23:185-187. 1986

An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome.  21:226-228. 1984

Paternal Robertsonian translocation t(13q;14q) and maternal reciprocal translocation t(7p;13q) in a couple with repeated fetal loss.  21:463-464. 1984

Huntington's disease in monozygotic twins reared apart.  20:408-411. 1983

A 21/21 tandem translocation with satellites on both long and short arms.  11:297-299. 1974