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Author/Creator Nikkel, Sarah M.

1. Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort. Issue 7 (9th May 2017)

Authors:
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.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1839
Record Type:
Journal Article
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2. Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome. Issue 1 (20th November 2017)

Authors:
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.
Journal:
American journal of medical genetics
Issue:
Volume 177:Issue 1(2018)
Page Start:
101
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013)

Authors:
Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van Bon, Bregje W.M.; van Minderhout, Ivonne J.H.M.; Snowdowne, Ronelle; van der Lans, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der Wielen, Michiel J.R.; Vollebregt, M.J. (E...
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1519
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013)

Authors:
Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van, Bregje W.M.; van, Ivonne J.H.M.; Snowdowne, Ronelle; van der, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der, Michiel J.R.; Vollebregt, M.J. (Ellen); Breuning, Martijn H....
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1519
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit. Issue 7 (16th July 2018)

Authors:
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.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 7(2018)
Page Start:
1688
Record Type:
Journal Article
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9. Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis. Issue 1 (9th November 2012)

Authors:
Lynch, Danielle C.; Dyment, David A.; Huang, Lijia; Nikkel, Sarah M.; Lacombe, Didier; Campeau, Philippe M.; Lee, Brendan; Bacino, Carlos A.; Michaud, Jacques L.; Bernier, Francois P.; Consortium, FORGE Canada; Parboosingh, Jillian S.; Innes, A. Micheil
Journal:
Human mutation
Issue:
Volume 34:Issue 1(2013:Jan.)
Page Start:
97
Record Type:
Journal Article
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10. Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis. Issue 4 (11th February 2013)

Authors:
Lynch, Danielle C.; Dyment, David A.; Huang, Lijia; Nikkel, Sarah M.; Lacombe, Didier; Campeau, Philippe M.; Lee, Brendan; Bacino, Carlos A.; Michaud, Jacques L.; Bernier, Francois P.; Consortium, FORGE Canada; Parboosingh, Jillian S.; Innes, A. Micheil
Journal:
Human mutation
Issue:
Volume 34:Issue 4(2013:Apr.)
Page Start:
667
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗