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Karen Chong

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
2015 · Kym Boycott, Taila Hartley, et al. · Journal of Medical Genetics · 237
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Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate
2010 · Jennifer J. Johnston, Jamie K. Teer, et al. · The American Journal of Human Genetics · 161
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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
2012 · U. Schwarze, T. Cundy, et al. · Human Molecular Genetics · 140
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Fetal cardiac defects and increased nuchal translucency thickness: A prospective study
2004 · Fionnuala M. McAuliffe, Lisa K. Hornberger, et al. · American Journal of Obstetrics and Gynecology · 114
Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome
2004 · J. Mitchell, Z. Punthakee, et al. · Diabetologia · 110
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RETIRED: Technical Update: Preimplantation Genetic Diagnosis and Screening
2015 · Elias M. Dahdouh, Jacques Balayla, et al. · Journal of Obstetrics and Gynaecology Canada · 107
Mapping the cellular origin and early evolution of leukemia in Down syndrome
2021 · Elvin Wagenblast, Joana Araújo, et al. · Science · 93
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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
2019 · Yline Capri, Elisabetta Flex, et al. · The American Journal of Human Genetics · 77
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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
2018 · Yoshiro Suzuki, David Chitayat, et al. · The American Journal of Human Genetics · 73
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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
2021 · Annalisa Vetro, Hang N Nielsen, et al. · Brain · 70
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Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population
2015 · Bita Hashemi, Anne Bassett, et al. · American Journal of Medical Genetics Part A · 69
Diagnostic utility of microarray testing in pregnancy loss
2015 · J. A. Rosenfeld, M. E. Tucker, et al. · Ultrasound in Obstetrics and Gynecology · 63
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Analysis of tissue from products of conception and perinatal losses using QF-PCR and microarray: A three-year retrospective study resulting in an efficient protocol
2016 · K. Wou, Y. Hyun, et al. · European Journal of Medical Genetics · 57
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
2020 · Sacha Ferdinandusse, Kirsty McWalter, et al. · Genetics in Medicine · 52
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Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency
2019 · P. Sinajon, D. Chitayat, et al. · Ultrasound in Obstetrics and Gynecology · 49
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Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits
2015 · R. Douglas Wilson, Alain Gagnon, et al. · Journal of Obstetrics and Gynaecology Canada · 48
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Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
2018 · Lance H. Rodan, Kwame Anyane‐Yeboa, et al. · American Journal of Medical Genetics Part A · 43
Referral patterns for microarray testing in prenatal diagnosis
2012 · Lisa G. Shaffer, Mindy Preston Dabell, et al. · Prenatal Diagnosis · 42
OEIS complex: prenatal ultrasound and autopsy findings
2007 · Z. Ben‐Neriah, S. Withers, et al. · Ultrasound in Obstetrics and Gynecology · 42
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases
2023 · Rebecca I. Torene, Maria J. Guillen Sacoto, et al. · The American Journal of Human Genetics · 39
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Warsaw breakage syndrome: Further clinical and genetic delineation
2018 · Ebba Alkhunaizi, Ranad Shaheen, et al. · American Journal of Medical Genetics Part A · 34
Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings
2007 · David Chitayat, Patrick Shannon, et al. · American Journal of Medical Genetics Part A · 33
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies
2022 · Yiming Wang, Elena Greenfeld, et al. · Prenatal Diagnosis · 30
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
2021 · Justin O. Szot, Anne Slavotinek, et al. · Human Mutation · 30
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Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes
2019 · Shirley Shuster, Johannes Keunen, et al. · Prenatal Diagnosis · 29
Works count: 84
Citation count: 2,234
H-index: 27
I10-index: 43
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