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203 results

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Page 1
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW. Cousin MA, et al. Genome Med. 2022 Jun 13;14(1):62. doi: 10.1186/s13073-022-01064-4. Genome Med. 2022. PMID: 35698242 Free PMC article.
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G; Individualized Medicine Clinic Members. Lazaridis KN, et al. Among authors: cousin ma. Mayo Clin Proc. 2016 Mar;91(3):297-307. doi: 10.1016/j.mayocp.2015.12.018. Mayo Clin Proc. 2016. PMID: 26944241
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
Boczek NJ, Sigafoos AN, Zimmermann MT, Maus RL, Cousin MA, Blackburn PR, Urrutia R, Clark KJ, Patterson MC, Wick MJ, Klee EW. Boczek NJ, et al. Among authors: cousin ma. Clin Case Rep. 2016 Aug 15;4(9):885-95. doi: 10.1002/ccr3.655. eCollection 2016 Sep. Clin Case Rep. 2016. PMID: 27648269 Free PMC article.
Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
Blackburn PR, Selcen D, Jackson JL, Guthrie KJ, Cousin MA, Boczek NJ, Clift KE, Klee EW, Dimberg EL, Atwal PS. Blackburn PR, et al. Among authors: cousin ma. Muscle Nerve. 2017 May;55(5):E19-E21. doi: 10.1002/mus.25471. Epub 2017 Feb 23. Muscle Nerve. 2017. PMID: 27862037 No abstract available.
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW. Blackburn PR, et al. Among authors: cousin ma. J Biol Chem. 2017 Mar 3;292(9):3866-3876. doi: 10.1074/jbc.M116.770545. Epub 2017 Jan 5. J Biol Chem. 2017. PMID: 28057753 Free PMC article.
203 results