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Author/Creator Eaton, Alison

1. 15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder. Issue 12 (14th November 2019)

Authors:
Chelban, Viorica; Wilson, Matthew P; Chardon, Jodi Warman; Vandrovcova, Jana; Natalia Zanetti, M; Zamba-Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R; Abis, Giancarlo; Liu, Yo-Tsen; Tribollet, Eloise; Haridy, Nourelhoda A; Botía, Juan A; Ryten, Mina; Nicolaou, Paschalis; ...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 90:Issue 12(2019)
Page Start:
e4
Record Type:
Journal Article
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2. Cover Image, Volume 176A, Number 5, May 2018. Issue 5 (21st April 2018)

Authors:
Kruszka, Paul; Porras, Antonio R.; de Souza, Deise Helena; Moresco, Angélica; Huckstadt, Victoria; Gill, Ashleigh D.; Boyle, Alec P.; Hu, Tommy; Addissie, Yonit A.; Mok, Gary T. K.; Tekendo‐Ngongang, Cedrik; Fieggen, Karen; Prijoles, Eloise J.; Tanpaiboon, Pranoot; Honey, Engela; Luk, Ho‐Ming; Lo...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 5(2018)
Page Start:
n/a
Record Type:
Journal Article
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3. Delineating the expanding phenotype of HERC2‐related disorders: The impact of biallelic loss of function versus missense variation. Issue 5 (9th August 2021)

Authors:
Vincent, Krista M.; Eaton, Alison; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi‐Gorji, Feyzollah; Rudichuk, Lauren; Goez, Helly; Leonard, Norma; Lazier, Joanna
Journal:
Clinical genetics
Issue:
Volume 100:Issue 5(2021)
Page Start:
637
Record Type:
Journal Article
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4. Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics. Issue 2 (19th November 2022)

Authors:
Mainali, Apurba; Athey, Taryn; Bahl, Shalini; Hung, Clara; Caluseriu, Oana; Chan, Alicia; Eaton, Alison; Ghai, Shailly Jain; Kannu, Peter; MacPherson, Melissa; Niederhoffer, Karen Y.; Siriwardena, Komudi; Mercimek‐Andrews, Saadet
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 2(2023)
Page Start:
510
Record Type:
Journal Article
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5. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Issue 6 (30th March 2021)

Authors:
Sheppard, Sarah E.; Campbell, Ian M.; Harr, Margaret H.; Gold, Nina; Li, Dong; Bjornsson, Hans T.; Cohen, Julie S.; Fahrner, Jill A.; Fatemi, Ali; Harris, Jacqueline R.; Nowak, Catherine; Stevens, Cathy A.; Grand, Katheryn; Au, Margaret; Graham, John M.; Sanchez‐Lara, Pedro A.; Campo, Miguel Del;...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 6(2021)
Page Start:
1649
Record Type:
Journal Article
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6. Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders. Issue 11 (23rd September 2018)

Authors:
Eaton, Alison; Bernier, Francois P.; Goedhart, Caitlin; Caluseriu, Oana; Lamont, Ryan E.; Boycott, Kym M.; Parboosingh, Jillian S.; Innes, A. Micheil
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2487
Record Type:
Journal Article
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7. PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation. Issue 2 (1st July 2019)

Authors:
Chelban, Viorica; Wilson, Matthew P.; Warman Chardon, Jodi; Vandrovcova, Jana; Zanetti, M. Natalia; Zamba‐Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R.; Abis, Giancarlo; Liu, Yo‐Tsen; Tribollet, Eloise; Haridy, Nourelhoda A.; Botía, Juan A.; Ryten, Mina; Nicolaou, Pascha...
Other Names:
Kriouile Yamna investigator.; Khorassani Mohamed El investigator.; Aguennouz Mhammed investigator.; Groppa Stanislav investigator.; Marinova Karashova Blagovesta investigator.; Van Maldergem Lionel investigator.; Nachbauer Wolfgang investigator.; Boesch Sylvia investigator.; Arning Larissa invest...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 2(2019)
Page Start:
225
Record Type:
Journal Article
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8. The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience. Issue 2 (4th November 2022)

Authors:
Ediae, Grace Uwaila; Lemire, Gabrielle; Chisholm, Caitlin; Hartley, Taila; Eaton, Alison; Osmond, Matthew; Rojas, Samantha K.; Huang, Lijia; Gillespie, Meredith; Sawyer, Sarah L.; Boycott, Kym M.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 2(2023)
Page Start:
338
Record Type:
Journal Article
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9. The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®. Issue 4 (22nd December 2018)

Authors:
Hartley, Taila; Balcı, Tuğçe B.; Rojas, Samantha K.; Eaton, Alison; Canada, Care4Rare; Dyment, David A.; Boycott, Kym M.
Other Names:
Boycott Kym guestEditor.; Innes Micheil guestEditor.; Dyment David guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 178:Issue 4(2018)
Page Start:
458
Record Type:
Journal Article
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