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Author/Creator Toro, Camilo

1. 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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2. 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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4. Neurological manifestations of Erdheim–Chester Disease. Issue 4 (29th March 2020)

Authors:
Boyd, Louisa C.; O'Brien, Kevin J.; Ozkaya, Neval; Lehky, Tanya; Meoded, Avner; Gochuico, Bernadette R.; Hannah‐Shmouni, Fady; Nath, Avindra; Toro, Camilo; Gahl, William A.; Estrada‐Veras, Juvianee I.; Dave, Rahul H.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 4(2020)
Page Start:
497
Record Type:
Journal Article
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5. P4‐707: A HYPOMORPH MUTATION OF THE TAU DISAGGREGASE VCP IS ASSOCIATED WITH VACUOLAR TAUOPATHY. (1st July 2019)

Authors:
Darwich, Nabil F.; Phan, Jessica M.; Suh, EunRan R.; Toro, Camilo; Grossman, Murray; Irwin, David; McMillan, Corey T.; Aguirre, Geoff K.; Van Deerlin, Vivianna M.; Lee, Edward B.
Journal:
Alzheimer's & dementia
Issue:
Volume 15:Supplement 7S(2019)Part 31
Page Start:
P1603
Record Type:
Journal Article
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6. A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. Issue 5 (9th March 2020)

Authors:
Burke, Elizabeth A.; Reichard, Kyle E.; Wolfe, Lynne A.; Brooks, Brian P.; DiGiovanna, John J.; Hadley, Donald W.; Lehky, Tanya J.; Gropman, Andrea L.; Tifft, Cynthia J.; Gahl, William A.; Toro, Camilo; Adams, David
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 5(2020)
Page Start:
1278
Record Type:
Journal Article
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8. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. Issue 8 (13th January 2017)

Authors:
Poretti, Andrea; Snow, Joseph; Summers, Angela C; Tekes, Aylin; Huisman, Thierry A G M; Aygun, Nafi; Carson, Kathryn A; Doherty, Dan; Parisi, Melissa A; Toro, Camilo; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, Jim C; Cullinane, Andrew R; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 8(2017)
Page Start:
521
Record Type:
Journal Article
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10. Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Issue 3 (14th December 2015)

Authors:
Davids, Mariska; Kane, Megan S; He, Miao; Wolfe, Lynne A; Li, Xueli; Raihan, Mohd A; Chao, Katherine R; Bone, William P; Boerkoel, Cornelius F; Gahl, William A; Toro, Camilo
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 3(2016)
Page Start:
180
Record Type:
Journal Article
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