Dual white matter pathology in fetal holoprosencephaly featuring concurrent malformative and destructive features: A case series
Das, Sumit, Brown, Lindsay, Nikkel, Sarah M, Saunders, Jessica, Dunham, Christopher
Published in Journal of neuropathology and experimental neurology (01.09.2024)
Published in Journal of neuropathology and experimental neurology (01.09.2024)
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Journal Article
Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure
Treit, Sarah, Zhou, Dongming, Chudley, Albert E, Andrew, Gail, Rasmussen, Carmen, Nikkel, Sarah M, Samdup, Dawa, Hanlon-Dearman, Ana, Loock, Christine, Beaulieu, Christian
Published in PloS one (29.02.2016)
Published in PloS one (29.02.2016)
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Journal Article
Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
Gourgas, Ophélie, Lemire, Gabrielle, Eaton, Alison J., Alshahrani, Sultanah, Duker, Angela L., Li, Jingjing, Carroll, Ricki S., Mackenzie, Stuart, Nikkel, Sarah M., Bober, Michael B., Boycott, Kym M., Murshed, Monzur
Published in Nature communications (30.04.2024)
Published in Nature communications (30.04.2024)
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Journal Article
Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys
Digby, Elizabeth L., Liauw, Jessica, Dionne, Janis, Langlois, Sylvie, Nikkel, Sarah M.
Published in Prenatal diagnosis (01.03.2021)
Published in Prenatal diagnosis (01.03.2021)
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Journal Article
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
Gourgas, Ophélie, Lemire, Gabrielle, Eaton, Alison J., Alshahrani, Sultanah, Duker, Angela L., Li, Jingjing, Carroll, Ricki S., Mackenzie, Stuart, Nikkel, Sarah M., Bober, Michael B., Boycott, Kym M., Murshed, Monzur
Published in Nature communications (03.11.2023)
Published in Nature communications (03.11.2023)
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Journal Article
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
Daoud, Hussein, Luco, Stephanie M, Li, Rui, Bareke, Eric, Beaulieu, Chandree, Jarinova, Olga, Carson, Nancy, Nikkel, Sarah M, Graham, Gail E, Richer, Julie, Armour, Christine, Bulman, Dennis E, Chakraborty, Pranesh, Geraghty, Michael, Lines, Matthew A, Lacaze-Masmonteil, Thierry, Majewski, Jacek, Boycott, Kym M, Dyment, David A
Published in Canadian Medical Association journal (CMAJ) (09.08.2016)
Published in Canadian Medical Association journal (CMAJ) (09.08.2016)
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Journal Article
The defining DNA methylation signature of Floating-Harbor Syndrome
Hood, Rebecca L., Schenkel, Laila C., Nikkel, Sarah M., Ainsworth, Peter J., Pare, Guillaume, Boycott, Kym M., Bulman, Dennis E., Sadikovic, Bekim
Published in Scientific reports (09.12.2016)
Published in Scientific reports (09.12.2016)
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Journal Article
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines
Cornthwaite, Melissa, Turner, Kelly, Armstrong, Linlea, Boerkoel, Cornelius F., Chang, Caitlin, Lehman, Anna, Nikkel, Sarah M., Patel, Millan S., Van Allen, Margot, Langlois, Sylvie
Published in Prenatal diagnosis (01.11.2022)
Published in Prenatal diagnosis (01.11.2022)
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Journal Article
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
Elliott, Alison M., du Souich, Christèle, Lehman, Anna, Guella, Ilaria, Evans, Daniel M., Candido, Tara, Tooman, Leah, Armstrong, Linlea, Clarke, Lorne, Gibson, William, Gill, Harinder, Lavoie, Pascal M., Lewis, Suzanne, McKinnon, Margaret L., Nikkel, Sarah M., Patel, Millan, Solimano, Alfonso, Synnes, Anne, Ting, Joseph, van Allen, Margot, Christilaw, Jan, Farrer, Matthew J., Friedman, Jan M., Osiovich, Horacio
Published in European journal of pediatrics (01.08.2019)
Published in European journal of pediatrics (01.08.2019)
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Journal Article
Working memory and visuospatial deficits correlate with oculomotor control in children with fetal alcohol spectrum disorder
Paolozza, Angelina, Rasmussen, Carmen, Pei, Jacqueline, Hanlon-Dearman, Ana, Nikkel, Sarah M., Andrew, Gail, McFarlane, Audrey, Samdup, Dawa, Reynolds, James N.
Published in Behavioural brain research (15.04.2014)
Published in Behavioural brain research (15.04.2014)
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Journal Article
Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach
Kock, Leanne, Cuillerier, Alexanne, Gillespie, Meredith, Couse, Madeline, Hartley, Taila, Mears, Wendy, Bernier, Francois P., Chudley, Albert E., Frosk, Patrick, Nikkel, Sarah M., Innes, A. Micheil, Lauzon, Julie, Thomas, Maryann, Guerin, Andrea, Armour, Christine M., Weksberg, Rosanna, Scott, James N., Watkins, Debra, Harvey, Shirley, Cytrynbaum, Cheryl, Kernohan, Kristin D., Boycott, Kym M.
Published in American journal of medical genetics. Part A (01.03.2024)
Published in American journal of medical genetics. Part A (01.03.2024)
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Journal Article
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome
Balci, Tugce B., Davila, Jorge, Lewis, Denice, Boafo, Addo, Sell, Erick, Richer, Julie, Nikkel, Sarah M., Armour, Christine M., Tomiak, Eva, Lines, Matthew A., Sawyer, Sarah L.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2018)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2018)
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Journal Article
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit
Kernohan, Kristin D., Hartley, Taila, Naumenko, Sergey, Armour, Christine M., Graham, Gail E., Nikkel, Sarah M., Lines, Matthew, Geraghty, Michael T., Richer, Julie, Mears, Wendy, Boycott, Kym M., Dyment, David A.
Published in American journal of medical genetics. Part A (01.07.2018)
Published in American journal of medical genetics. Part A (01.07.2018)
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Journal Article
Deficits in response inhibition correlate with oculomotor control in children with fetal alcohol spectrum disorder and prenatal alcohol exposure
Paolozza, Angelina, Rasmussen, Carmen, Pei, Jacqueline, Hanlon-Dearman, Ana, Nikkel, Sarah M., Andrew, Gail, McFarlane, Audrey, Samdup, Dawa, Reynolds, James N.
Published in Behavioural brain research (01.02.2014)
Published in Behavioural brain research (01.02.2014)
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Journal Article
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort
Malam, Faheem, Hartley, Taila, Gillespie, Meredith K., Armour, Christine M., Bariciak, Erika, Graham, Gail E., Nikkel, Sarah M., Richer, Julie, Sawyer, Sarah L., Boycott, Kym M., Dyment, David A.
Published in American journal of medical genetics. Part A (01.07.2017)
Published in American journal of medical genetics. Part A (01.07.2017)
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Journal Article
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
Racacho, Lemuel, Byrnes, Ashley M, MacDonald, Heather, Dranse, Helen J, Nikkel, Sarah M, Allanson, Judith, Rosser, Elisabeth, Underhill, T Michael, Bulman, Dennis E
Published in European journal of human genetics : EJHG (01.12.2015)
Published in European journal of human genetics : EJHG (01.12.2015)
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Journal Article
Noninvasive prenatal testing from cell-free DNA
Armour, Christine M, Nikkel, Sarah M
Published in Canadian Medical Association journal (CMAJ) (02.09.2014)
Published in Canadian Medical Association journal (CMAJ) (02.09.2014)
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