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Author/Creator Gleeson, Joseph

1. 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
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2. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Issue 10 (10th August 2020)

Authors:
Donkervoort, Sandra; Mohassel, Payam; Laugwitz, Lucia; Zaki, Maha S.; Kamsteeg, Erik‐Jan; Maroofian, Reza; Chao, Katherine R.; Verschuuren‐Bemelmans, Corien C.; Horber, Veronka; Fock, Annemarie J. M.; McCarty, Riley M.; Jain, Minal S.; Biancavilla, Victoria; McMacken, Grace; Nalls, Matthew; Voerm...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 10(2020)
Page Start:
2272
Record Type:
Journal Article
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3. Clinical Pertinence Metric Enables Hypothesis-Independent Genome-Phenome Analysis for Neurologic Diagnosis. (June 2015)

Authors:
Segal, Michael M.; Abdellateef, Mostafa; El-Hattab, Ayman W.; Hilbush, Brian S.; De La Vega, Francisco M.; Tromp, Gerard; Williams, Marc S.; Betensky, Rebecca A.; Gleeson, Joseph
Journal:
Journal of child neurology
Issue:
Volume 30:Number 7(2015:Jun.)
Page Start:
881
Record Type:
Journal Article
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4. MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. (4th December 2015)

Authors:
Bronicki, Lucas; Redin, Claire; Drunat, Severine; Piton, Amélie; Lyons, Michael; Passemard, Sandrine; Baumann, Clarisse; Faivre, Laurence; Thevenon, Julien; Rivière, Jean-Baptiste; Isidor, Bertrand; Gan, Grace; Francannet, Christine; Gunel, Murat; Jones, Julie; Gleeson, Joseph; Willems, Marjolain...
Journal:
Journal of medical genetics
Issue:
Volume 52(2015)Supplement 1
Page Start:
A2
Record Type:
Journal Article
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