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Page 1
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V. Ernst ME, et al. Among authors: lippa n. Epilepsia. 2021 Jul;62(7):e103-e109. doi: 10.1111/epi.16931. Epub 2021 May 26. Epilepsia. 2021. PMID: 34041744 Free PMC article.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. Myers CT, et al. Among authors: lippa nc. Am J Hum Genet. 2017 Oct 5;101(4):516-524. doi: 10.1016/j.ajhg.2017.08.013. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942967 Free PMC article.
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A; CAUSES study; Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S; EuroEPINOMICS-RES-MAE working group; Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT. Mulhern MS, et al. Among authors: lippa n. Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25. Ann Neurol. 2018. PMID: 30269351 Free PMC article.
Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7.
Hall D, Stong N, Lippa N, Pitman MJ, Pullman SL, Levy OA. Hall D, et al. Among authors: lippa n. Mov Disord Clin Pract. 2018 Mar 2;5(2):221-222. doi: 10.1002/mdc3.12580. eCollection 2018 Mar-Apr. Mov Disord Clin Pract. 2018. PMID: 30746405 Free PMC article. No abstract available.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H; UCLA Clinical Genomics Center; Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C. Fliedner A, et al. Among authors: lippa n. Am J Hum Genet. 2020 Sep 3;107(3):544-554. doi: 10.1016/j.ajhg.2020.06.019. Epub 2020 Jul 29. Am J Hum Genet. 2020. PMID: 32730804 Free PMC article.
Causal Genetic Variants in Stillbirth.
Stanley KE, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari AV, Revah-Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker CB, Goldenberg R, Saade GR, Dudley DJ, Pinar H, Hogue C, Reddy UM, Silver RM, Aggarwal V, Allen AS, Wapner RJ, Goldstein DB. Stanley KE, et al. Among authors: lippa n. N Engl J Med. 2020 Sep 17;383(12):1107-1116. doi: 10.1056/NEJMoa1908753. Epub 2020 Aug 12. N Engl J Med. 2020. PMID: 32786180 Free PMC article.
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.
Miceli F, Carotenuto L, Barrese V, Soldovieri MV, Heinzen EL, Mandel AM, Lippa N, Bier L, Goldstein DB, Cooper EC, Cilio MR, Taglialatela M, Sands TT. Miceli F, et al. Among authors: lippa n. Front Physiol. 2020 Sep 4;11:1040. doi: 10.3389/fphys.2020.01040. eCollection 2020. Front Physiol. 2020. PMID: 33013448 Free PMC article.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. Verberne EA, et al. Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077894 Free article.
Genetic testing in individuals with cerebral palsy.
May HJ, Fasheun JA, Bain JM, Baugh EH, Bier LE, Revah-Politi A; New York Presbyterian Hospital/Columbia University Irving Medical Center Genomics Team; Roye DP Jr, Goldstein DB, Carmel JB. May HJ, et al. Dev Med Child Neurol. 2021 Dec;63(12):1448-1455. doi: 10.1111/dmcn.14948. Epub 2021 Jun 10. Dev Med Child Neurol. 2021. PMID: 34114234 Free PMC article.
40 results