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Author/Creator Goldstein, Amy

1. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Issue 5 (11th July 2022)

Authors:
Ganapathi, Mythily; Friocourt, Gaelle; Gueguen, Naig; Friederich, Marisa W.; Le Gac, Gerald; Okur, Volkan; Loaëc, Nadège; Ludwig, Thomas; Ka, Chandran; Tanji, Kurenai; Marcorelles, Pascale; Theodorou, Evangelos; Lignelli‐Dipple, Angela; Voisset, Cécile; Walker, Melissa A.; Briere, Lauren C.; Bour...
Other Names:
Bhattacharya Kaustuv guestEditor.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 5(2022)
Page Start:
996
Record Type:
Journal Article
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2. A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders. (10th April 2015)

Authors:
Hu, Jie; Sathanoori, Malini; Kochmar, Sally; Azage, Meron; Mann, Susan; Madan‐Khetarpal, Suneeta; Goldstein, Amy; Surti, Urvashi
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 8(2015:Aug.)
Page Start:
1921
Record Type:
Journal Article
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4. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (13th February 2018)

Authors:
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Fauni, Harper B; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Ch...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 7(2018:Apr. 01)
Page Start:
1310
Record Type:
Journal Article
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5. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (2nd January 2018)

Authors:
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Fauni, Harper B; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Ch...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 4(2018:Feb. 15)
Page Start:
691
Record Type:
Journal Article
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6. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (2nd January 2018)

Authors:
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Harper, Fauni; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Chri...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 4(2018:Feb. 15)
Page Start:
691
Record Type:
Journal Article
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8. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Issue 12 (December 2015)

Authors:
Mirzaa, Ghayda M; Conti, Valerio; Timms, Andrew E; Smyser, Christopher D; Ahmed, Sarah; Carter, Melissa; Barnett, Sarah; Hufnagel, Robert B; Goldstein, Amy; Narumi-Kishimoto, Yoko; Olds, Carissa; Collins, Sarah; Johnston, Kathreen; Deleuze, Jean-François; Nitschké, Patrick; Friend, Kathryn; Harri...
Journal:
Lancet neurology
Issue:
Volume 14:Issue 12(2015:Dec.)
Page Start:
1182
Record Type:
Journal Article
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10. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Issue 3 (16th March 2017)

Authors:
Karaa, Amel; Rahman, Shamima; Lombès, Anne; Yu‐Wai‐Man, Patrick; Sheikh, Muniza K.; Alai‐Hansen, Sherita; Cohen, Bruce H.; Dimmock, David; Emrick, Lisa; Falk, Marni J.; McCormack, Shana; Mirsky, David; Moore, Tony; Parikh, Sumit; Shoffner, John; Taivassalo, Tanja; Tarnopolsky, Mark; Tein, Ingrid;...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 3(2017)
Page Start:
403
Record Type:
Journal Article
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