A. Smith

Publications164
h-index25
Citations2,589
Highly Influential Citations93
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Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype have been reported with a new dominant mutation at theFGFR2 locus as… Expand
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Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES), are identifying the… Expand
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Chimerism and tolerance in a recipient of a deceased-donor liver transplant.
Complete hematopoietic chimerism and tolerance of a liver allograft from a deceased male donor developed in a 9-year-old girl, with no evidence of graft-versus-host disease 17 months after… Expand
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Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
We report the clinical features in 27 Australasian patients with Angelman syndrome (AS), all with a DNA deletion involving chromosome 15(q11-13), spanning markers from D15S9 to D15S12, about 3 center… Expand
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Mortality in Prader-Willi syndrome.
Persons with Prader-Willi syndrome have been known to have a high mortality rate. However, intellectual disability, which usually accompanies Prader-Willi syndrome, is also associated with a higher… Expand
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The significance of pericentric inversions of chromosome 2
SummaryThirteen new cases of a pericentric inversion 2 collected from different laboratories are reported. In addition 41 cases of a pericentric inversion 2 were reviewed from the literature. The… Expand
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The Effect of Hand‐Grip Stabilization on Isokinetic Torque at the Knee
Isokinetic dynamometers commonly measure muscle strength during conditioning and rehabilitation. Previous studies have shown that stabilization can affect isokinetic torque production. However, the… Expand
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UBE3A“mutations” in two unrelated and phenotypically different Angelman syndrome patients
Abstract Angelman syndrome (AS) is a rare neurodevelopmental disorder. Recently, several mutations have been found in the E6-AP ubiquitin protein ligase gene (UBE3A) in a group of patients who are… Expand
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Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.
Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability. We carried out a genome-wide association discovery study of 1866 patients with AAA and… Expand
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Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome.
A 13-year-old girl with an unbalanced karyotype 45,XX,-15,der(22)t(15;22)(q13;q13.3) de novo had Prader-Willi syndrome (PWS), (score 13.5), but with features of mental and physical retardation more… Expand
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