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Items: 11

1.

Clinical spectrum of STX1B-related epileptic disorders.

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007089. doi: 10.1212/WNL.0000000000007089. [Epub ahead of print]

PMID:
30737342
2.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS, Meuwissen ME, Monaghan KG, de Munnik SA, Nava C, Ockeloen CW, Pettinato R, Racher H, Rinne T, Romano C, Sanders VR, Schnur RE, Smeets EJ, Stegmann APA, Stray-Pedersen A, Sweetser DA, Terhal PA, Tveten K, VanNoy GE, de Vries PF, Waxler JL, Willing M, Pfundt R, Veltman JA, Kooy RF, Vissers LELM, de Vries BBA.

Eur J Hum Genet. 2019 Jan 24. doi: 10.1038/s41431-018-0292-2. [Epub ahead of print]

PMID:
30679813
3.

A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.

Morales-Rosado JA, Kaiwar C, Smith BE, Klee EW, Dhamija R.

Am J Med Genet A. 2018 Dec;176(12):2846-2849. doi: 10.1002/ajmg.a.40626. Epub 2018 Dec 14.

PMID:
30549423
4.

Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype.

Kaiwar C, Kruisselbrink TM, Kudva YC, Klee EW, Pichurin P.

Clin Immunol. 2018 Sep 30. pii: S1521-6616(17)30866-5. doi: 10.1016/j.clim.2018.09.013. [Epub ahead of print]

PMID:
30282051
5.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G.

Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184.

PMID:
29050392
6.

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002162. doi: 10.1101/mcs.a002162. Print 2017 Nov. Review.

7.

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.

Vairo FP, Boczek NJ, Cousin MA, Kaiwar C, Blackburn PR, Conboy E, Lanpher BC, Gavrilova RH, Pichurin PN, Lazaridis KN, Babovic-Vuksanovic D, Klee EW.

Mol Genet Metab Rep. 2017 Aug 11;13:46-51. doi: 10.1016/j.ymgmr.2017.08.001. eCollection 2017 Dec.

8.

Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.

Kaiwar C, Macklin SK, Gass JM, Jackson J, Klee EW, Hines SL, Stauffer JA, Atwal PS.

Hered Cancer Clin Pract. 2017 Jul 21;15:10. doi: 10.1186/s13053-017-0070-0. eCollection 2017.

9.

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN.

Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001743. doi: 10.1101/mcs.a001743.

10.

Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia.

Zhou AW, Knoche EM, Engle EK, Ban-Hoefen M, Kaiwar C, Oh ST.

N Engl J Med. 2016 Aug 4;375(5):494-6. doi: 10.1056/NEJMc1600337. No abstract available.

11.

Teaching NeuroImages: The lentiform fork sign: An MRI pattern of metformin-associated encephalopathy.

Kaiwar C.

Neurology. 2015 Aug 18;85(7):655. doi: 10.1212/WNL.0000000000001847. No abstract available.

PMID:
26283760

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