Search Results - "Nikkel, Sarah M."

Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure by Treit, Sarah, Zhou, Dongming, Chudley, Albert E, Andrew, Gail, Rasmussen, Carmen, Nikkel, Sarah M, Samdup, Dawa, Hanlon-Dearman, Ana, Loock, Christine, Beaulieu, Christian

“…Head circumference is used together with other measures as a proxy for central nervous system damage in the diagnosis of fetal alcohol spectrum disorders, yet…”
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Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia by 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

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Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys by Digby, Elizabeth L., Liauw, Jessica, Dionne, Janis, Langlois, Sylvie, Nikkel, Sarah M.

“…Objectives To determine etiologies and outcomes of fetal hyperechogenic kidneys (HEK). Methods We conducted a retrospective chart review of HEK in British…”
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Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia by 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

“…Matrix Gla protein (MGP) is a vitamin K-dependent post-translationally modified protein, highly expressed in vascular and cartilaginous tissues. It is a potent…”
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Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1 by Bhola, Priya T, Hartley, Taila, Bareke, Eric, Boycott, Kym M, Nikkel, Sarah M, Dyment, David A

“…De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa…”
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Dual white matter pathology in fetal holoprosencephaly featuring concurrent malformative and destructive features: A case series by Das, Sumit, Brown, Lindsay, Nikkel, Sarah M, Saunders, Jessica, Dunham, Christopher

“…Abstract Holoprosencephaly (HPE) is a classic brain malformation involving defective forebrain induction and patterning. Cases of HPE bearing white matter…”
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Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog by BYRNES, Ashley M, RACACHO, Lemuel, BULMAN, Dennis E, GRIMSEY, Allison, HUDGINS, Louanne, KWAN, Andrea C, SANGALLI, Michel, KIDD, Alexa, YARON, Yuval, LAU, Yu-Lung, NIKKEL, Sarah M

“…Mutations in the gene Indian Hedgehog (IHH) that cause Brachydactyly A-1 (BDA1) have been restricted to a specific region of the N-terminal active fragment of…”
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Growth and development in thanatophoric dysplasia – an update 25 years later by Nikkel, Sarah M., Major, Nathalie, King, W. James

“…Key Clinical Message Thanatophoric dysplasia is typically a neonatal lethal condition. However, for those rare individuals who do survive, there is the…”
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Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know by Nikkel, Sarah M.

“…Purpose of Review This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to…”
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Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit by 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

“…Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU)…”
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The defining DNA methylation signature of Floating-Harbor Syndrome by Hood, Rebecca L., Schenkel, Laila C., Nikkel, Sarah M., Ainsworth, Peter J., Pare, Guillaume, Boycott, Kym M., Bulman, Dennis E., Sadikovic, Bekim

“…Floating-Harbor syndrome (FHS) is an autosomal dominant genetic condition characterized by short stature, delayed osseous maturation, expressive language…”
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Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines by Cornthwaite, Melissa, Turner, Kelly, Armstrong, Linlea, Boerkoel, Cornelius F., Chang, Caitlin, Lehman, Anna, Nikkel, Sarah M., Patel, Millan S., Van Allen, Margot, Langlois, Sylvie

“…Objective To evaluate the impact of implementing commercial whole exome sequencing (WES) and targeted gene panel testing in pregnancies with fetal anomalies…”
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RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges by 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

“…Genetic disorders are one of the leading causes of infant mortality and are frequent in neonatal intensive care units (NICUs). Rapid genome-wide sequencing…”
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Working memory and visuospatial deficits correlate with oculomotor control in children with fetal alcohol spectrum disorder by Paolozza, Angelina, Rasmussen, Carmen, Pei, Jacqueline, Hanlon-Dearman, Ana, Nikkel, Sarah M., Andrew, Gail, McFarlane, Audrey, Samdup, Dawa, Reynolds, James N.

“…•Eye movement tasks can be used to understand brain damage caused by PAE.•FASD group performed worse than controls working memory and visuospatial…”
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Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach by 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.

“…Activating variants in the PIK3CA gene cause a heterogeneous spectrum of disorders that involve congenital or early‐onset segmental/focal overgrowth, now…”
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Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome by 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.

“…White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features…”
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Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene by Smith, Amanda, Bulman, Dennis E, Goldsmith, Claire, Bareke, Eric, Majewski, Jacek, Boycott, Kym M, Nikkel, Sarah M

“…Meconium ileus is most often associated with mutations in the CFTR gene; however recently, mutations in GUCY2C in the Bedouin population have also been shown…”
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Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit by 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.

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Deficits in response inhibition correlate with oculomotor control in children with fetal alcohol spectrum disorder and prenatal alcohol exposure by Paolozza, Angelina, Rasmussen, Carmen, Pei, Jacqueline, Hanlon-Dearman, Ana, Nikkel, Sarah M., Andrew, Gail, McFarlane, Audrey, Samdup, Dawa, Reynolds, James N.

“…•FASD and PAE group performed worse on measures of attention and inhibition.•FASD/PAE inhibition deficits were related to problems controlling eye…”
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Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort by 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.

“…Genetic disease and congenital anomalies continue to be a leading cause of neonate mortality and morbidity. A genetic diagnosis in the neonatal intensive care…”
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