Karen Chong

ScholarGPS® ID: 91010176585987

Affiliation

University of Toronto, Toronto, Canada

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Prenatal Testing | Medical Genetics | Dysplasia | Microarray | Ultrasound

Metrics Summary

Publication Count

Predicted Citations

1,218

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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P812: Multiple fetal anomalies suggest a role for CDK20 in human ciliopathies (journal article) Chong, Karen \| Chitayat, David \| Ryan, Greg \| Windrim, Rory \| Shannon, Patrick \| Parks, William \| Botsford, Claire \| Uster, Tami Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101720 Cite \| Source
P788: The ADGRA2 gene is associated with multiple fetal brain anomalies in humans (journal article) Chong, Karen \| Keunen, Johannes \| Staines, Andrea \| Shannon, Patrick Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101696 Cite \| Source
P769: Trio-whole exome and whole genome sequencing in fetal central nervous system anomalies (journal article) Gershon, Ariel \| Anandampillai, Tanvi \| Arshad, Maahil \| Martin, Nicole \| Stavropoulos, James \| Noor, Abdul \| Greenfeld, Elena \| Chong, Karen \| Chitayat, David \| Meyn, Stephen \| Wang, Yiming Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101677 Cite \| Source
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases (journal article) Torene, Rebecca I. \| Guillen Sacoto, Maria J. \| Millan, Francisca \| Zhang, Zhancheng \| McGee, Stephen \| Oetjens, Matthew \| Heise, Elizabeth \| Chong, Karen \| Sidlow, Richard \| O’Grady, Lauren \| ... \| Retterer, Kyle The American Journal of Human Genetics, volume 111, issue 1, pages 70-81 (2024). 10.1016/j.ajhg.2023.11.007 Cited by (2) \| Cite \| Source
Lung Hypoplasia in Fetuses with Skeletal Dysplasia Determined by Fetal Lung Weight: Which Ultrasound Measurement/Ratio Has the Highest Detection Rate (journal article) Ashwal, Eran \| Sgro, Jonathan \| Shannon, Patrick \| Chong, Karen \| Glanc, Phyllis \| Chitayat, David Fetal Diagnosis and Therapy, volume 51, issue 1, pages 23-29 (2024). 10.1159/000534209 Cited by (1) \| Cite \| Source
Anterior extension of the choroid plexus into the frontal horns of the fetal lateral cerebral ventricles: Prenatal findings and postnatal outcome (journal article) Ashwal, Eran \| Blaser, Susan \| Leckie, Ashley \| Kajal, Dilkash \| Krishnan, Pradeep \| Chong, Karen \| Roifman, Maian \| Toi, Ants \| Chitayat, David Prenatal Diagnosis, volume 43, issue 6, pages 756-762 (2023). 10.1002/pd.6344 Cite \| Source
Diagnosis of TBC1D32 ‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy (journal article) Harris, Sarah C. \| Chong, Karen \| Chitayat, David \| Gilmore, Kelly L. \| Jorge, Alexander A. L. \| Freire, Bruna L. \| Lerario, Antonio \| Shannon, Patrick \| Cope, Heidi \| Gallentine, William B. \| ... \| Vora, Neeta L. American Journal of Medical Genetics Part A, volume 191, issue 5, pages 1282-1292 (2023). 10.1002/ajmg.a.63150 Cited by (1) \| Cite \| Source
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies (journal article) Wang, Yiming \| Greenfeld, Elena \| Watkins, Nicholas \| Belesiotis, Peter \| Zaidi, Syed H. \| Marshall, Christian \| Thiruvahindrapuram, Bhooma \| Shannon, Patrick \| Roifman, Maian \| Chong, Karen \| ... \| Noor, Abdul Prenatal Diagnosis, volume 42, issue 7, pages 822-830 (2022). 10.1002/pd.6108 Cited by (13) \| Cite \| Source
The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2‐related Disorders (journal article) Sandy, Natascha S. \| Huysentruyt, Koen \| Mulder, Daniel J. \| Warner, Neil \| Chong, Karen \| Morel, Chantal \| AlQahtani, Saleh \| Wales, Paul W. \| Martin, Martin G. \| Muise, Aleixo M. \| Avitzur, Yaron Journal of Pediatric Gastroenterology and Nutrition, volume 74, issue 5, pages 575-581 (2022). 10.1097/MPG.0000000000003400 Cited by (4) \| Cite \| Source
Lethal Fetal Skeletal Dysplasia Determined by Fetal Lung Weight—Which Ultrasound Measurement/Ratio Has the Highest Detection Rate? (journal article) Ashwal, Eran \| Jonathan, Sgro \| Shannon, Patrick \| Chong, Karen \| Chitayat, David Journal of Obstetrics and Gynaecology Canada, volume 44, issue 5, pages 600- (2022). 10.1016/j.jogc.2022.02.019 Cite \| Source
Lethal Fetal Skeletal Dysplasia Determined by Fetal Lung Weight (journal article) Ashwal‏, Eran \| Sgro, Jonathan \| Shannon, Patrick \| Chong, Karen \| Chitayat, David American Journal of Obstetrics and Gynecology, volume 226, issue 1, pages S375-S376 (2022). 10.1016/j.ajog.2021.11.629 Cite \| Source
Brain and Placental Pathology in Fetal COL4A1 Related Disease (journal article) Shannon, Patrick \| Hum, Courtney \| Parks, Tony \| Schauer, GM \| Chitayat, David \| Chong, Karen \| Shinar, Shiri \| Blaser, Susan \| Moore, Gaea \| Van Mieghem, Tim Pediatric and Developmental Pathology, volume 24, issue 3, pages 175-186 (2021). 10.1177/1093526620984083 Cited by (8) \| Cite \| Source
Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy (journal article) Shinar, Shiri \| Balakumar, Parry \| Shah, Vibhuti \| Chong, Karen \| Uster, Tami \| Chitayat, David American Journal of Perinatology Reports, volume 10, issue 03, pages e294-e299 (2020). 10.1055/s-0040-1716742 Cited by (2) \| Cite \| Source
491: Long term infant outcomes of prenatally suspected septo-optic dysplasia (journal article) Shinar, Shiri \| Blaser, Susan \| Chau, Vann \| Selvanathana, Thyiviya \| Chong, Karen \| Van Mieghem, Tim American Journal of Obstetrics and Gynecology, volume 222, issue 1, pages S321- (2020). 10.1016/j.ajog.2019.11.507 Cite \| Source
Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes (journal article) Shuster, Shirley \| Keunen, Johannes \| Shannon, Patrick \| Watkins, Nicholas \| Chong, Karen \| Chitayat, David Prenatal Diagnosis, volume 39, issue 9, pages 693-700 (2019). 10.1002/pd.5418 Cited by (22) \| Cite \| Source
Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities (journal article) Rodan, Lance H. \| Anyane‐Yeboa, Kwame \| Chong, Karen \| Klein Wassink‐Ruiter, Jolien S. \| Wilson, Ashley \| Smith, Lacey \| Kothare, Sanjeev V. \| Rajabi, Farrah \| Blaser, Susan \| Ni, Min \| ... \| Berry, Gerard T. American Journal of Medical Genetics Part A, volume 176, issue 12, pages 2554-2560 (2018). 10.1002/ajmg.a.60677 Cited by (27) \| Cite \| Source
Warsaw breakage syndrome: Further clinical and genetic delineation (journal article) Alkhunaizi, Ebba \| Shaheen, Ranad \| Bharti, Sanjay Kumar \| Joseph‐George, Ann M. \| Chong, Karen \| Abdel‐Salam, Ghada M. H. \| Alowain, Mohammed \| Blaser, Susan I. \| Papsin, Blake C. \| Butt, Mohammed \| ... \| Chitayat, David American Journal of Medical Genetics Part A, volume 176, issue 11, pages 2404-2418 (2018). 10.1002/ajmg.a.40482 Cited by (14) \| Cite \| Source
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism (journal article) Suzuki, Yoshiro \| Chitayat, David \| Sawada, Hirotake \| Deardorff, Matthew A. \| McLaughlin, Heather M. \| Begtrup, Amber \| Millar, Kathryn \| Harrington, Jennifer \| Chong, Karen \| Roifman, Maian \| ... \| Nishimura, Gen The American Journal of Human Genetics, volume 102, issue 6, pages 1104-1114 (2018). 10.1016/j.ajhg.2018.04.006 Cited by (50) \| Cite \| Source
Nonisolated diaphragmatic hernia in Simpson‐Golabi‐Behmel syndrome (journal article) Chong, Karen \| Saleh, Maha \| Injeyan, Marie \| Miron, Ioana \| Fong, Katherine \| Shannon, Patrick Prenatal Diagnosis, volume 38, issue 2, pages 117-122 (2018). 10.1002/pd.5198 Cited by (5) \| Cite \| Source
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia (journal article) Farrell, Sandra A. \| Sodhi, Sandi \| Marshall, Christian R. \| Guerin, Andrea \| Slavotinek, Anne \| Paton, Tara \| Chong, Karen \| Sirkin, Wilma L. \| Scherer, Stephen W. \| Bérubé‐Simard, Félix‐Antoine \| Pilon, Nicolas American Journal of Medical Genetics Part A, volume 173, issue 11, pages 3070-3074 (2017). 10.1002/ajmg.a.38354 Cited by (11) \| Cite \| Source