• Publications
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Somatic mutations in cerebral cortical malformations.
METHODS Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocytederived DNA samples from 158Expand
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  • Open Access
Clinical application of next-generation sequencing for Mendelian diseases
Over the past decade, next-generation sequencing (NGS) has led to an exponential increase in our understanding of the genetic basis of Mendelian diseases. NGS allows for the analysis of multipleExpand
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Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome
Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new humanExpand
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  • Open Access
Williams–Beuren syndrome in diverse populations
Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent withExpand
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From Big Data to Precision Medicine
For over a decade the term “Big data” has been used to describe the rapid increase in volume, variety and velocity of information available, not just in medical research but in almost every aspect ofExpand
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  • Open Access
Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia
Deferiprone is an orally active iron-chelating agent used in the management of transfusion-related hemosiderosis. It has been in clinical use for over 20 years and has been shown to be effective inExpand
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Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
BackgroundNext-generation sequencing (NGS) has revolutionized genetic research and offers enormous potential for clinical application. Sequencing the exome has the advantage of casting the net wideExpand
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowingExpand
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  • Open Access
Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation
  • M. Brett, A. Lai, +4 authors E. Tan
  • Biology, Medicine
  • American journal of medical genetics. Part A
  • 1 February 2017
Acute Lymphoblastic Leukemia in a Child with a De Novo Germline GNB1 Mutation Maggie Brett, Angeline H. M. Lai, Teck-Wah Ting, Ah-Moy Tan, Roger Foo, Saumya Jamuar, and Ene-Choo Tan* ResearchExpand
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Left Ventricular Non-compaction: Is It Genetic?
Left ventricular non-compaction (LVNC) is reported to affect 0.14 % of the pediatric population. The etiology is heterogeneous and includes a wide number of genetic causes. As an illustration, weExpand
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