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ISSN 1098-3600

3. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. (September 2018)

Authors:
Lee, Eric; Le, Trang; Zhu, Ying; Elakis, George; Turner, Anne; Lo, William; Venselaar, Hanka; Verrenkamp, Carol-Ann; Snow, Nicole; Mowat, David; Kirk, Edwin Philip; Sachdev, Rani; Smith, Janine; Brown, Natasha Jane; Wallis, Mathew; Barnett, Chris; McKenzie, Fiona; Freckmann, Mary-Louise; Collins,...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 9(2018)
Page Start:
1061
Record Type:
Journal Article
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4. A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. (October 2018)

Authors:
Wangler, Michael; Hubert, Leroy; Donti, Taraka; Ventura, Meredith; Miller, Marcus; Braverman, Nancy; Gawron, Kelly; Bose, Mousumi; Moser, Ann; Jones, Richard; Rizzo, William; Sutton, V; Sun, Qin; Kennedy, Adam; Elsea, Sarah
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1274
Record Type:
Journal Article
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5. A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome. (November 2018)

Authors:
Potuijt, Jacob; Baas, Martijn; Sukenik-Halevy, Rivka; Douben, Hannie; Nguyen, Picard; Venter, Deon; Gallagher, Renée; Swagemakers, Sigrid; Hovius, Steven; van Nieuwenhoven, Christianne; Galjaard, Robert-Jan; van der Spek, Peter; Ahituv, Nadav; de Klein, Annelies
Journal:
Genetics in medicine
Issue:
Volume 20:Number 11(2018)
Page Start:
1405
Record Type:
Journal Article
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6. A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. (July 2018)

Authors:
Nagamani, Sandesh C S; Agarwal, Umang; Tam, Allison; Azamian, Mahshid; McMeans, Ann; Didelija, Inka C; Mohammad, Mahmoud A; Marini, Juan C
Journal:
Genetics in medicine
Issue:
Volume 20:Number 7(2018)
Page Start:
708
Record Type:
Journal Article
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8. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. (November 2018)

Authors:
Di Donato, Nataliya; Timms, Andrew; Aldinger, Kimberly; Mirzaa, Ghayda; Bennett, James; Collins, Sarah; Olds, Carissa; Mei, Davide; Chiari, Sara; Carvill, Gemma; Myers, Candace; Rivière, Jean-Baptiste; Zaki, Maha; Gleeson, Joseph; Rump, Andreas; Conti, Valerio; Parrini, Elena; Ross, M; Ledbetter,...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 11(2018)
Page Start:
1354
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings. (October 2018)

Authors:
Christensen, Kurt; Bernhardt, Barbara; Jarvik, Gail; Hindorff, Lucia; Ou, Jeffrey; Biswas, Sawona; Powell, Bradford; Grundmeier, Robert; Machini, Kalotina; Karavite, Dean; Pennington, Jeffrey; Krantz, Ian; Berg, Jonathan; Goddard, Katrina
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1186
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗