Farris J, Khanna C, Smadbeck JB, Johnson SH, Bothun E, Kaplan T, Hoffman F, Polonis K, Oliver G, Reis LM, Semina EV, Rust L, Hoppman NL, Vasmatzis G, Marcou CA, Schimmenti LA, Klee EW. Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome American Journal of Medical Genetics, Part A. May 2024;194(5) SCOPUS ID: 2-s2.0-85182427833 05/01/2024
Replogle MR, Thompson S, Reis LM, Semina EV. A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element Human Mutation. 2024;2024 SCOPUS ID: 2-s2.0-85185155859 01/01/2024
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology European Journal of Human Genetics. November 2023;31(11):1251-1260 SCOPUS ID: 2-s2.0-85168862554 11/01/2023
Reis LM, Amor DJ, Haddad RA, Nowak CB, Keppler-Noreuil KM, Chisholm SA, Semina EV. Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum. Genes (Basel). 2023 Oct 17;14(10) PMID: 37895297 PMCID: PMC10606241 SCOPUS ID: 2-s2.0-85175276734 10/28/2023
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. Eur J Hum Genet. 2023 Nov;31(11):1251-1260 PMID: 37644171 PMCID: PMC10620399 SCOPUS ID: 2-s2.0-85168862554 08/30/2023
Reis LM, Atilla H, Kannu P, Schneider A, Thompson S, Bardakjian T, Semina EV. Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease. Genes (Basel). 2023 Jan 14;14(1) PMID: 36672956 PMCID: PMC9859058 SCOPUS ID: 2-s2.0-85146756040 01/22/2023
Seese SE, Muheisen S, Gath N, Gross JM, Semina EV. Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development. Dev Dyn. 2023 Apr;252(4):510-526 PMID: 36576422 PMCID: PMC10947772 SCOPUS ID: 2-s2.0-85145738490 12/29/2022
Reis LM, Chassaing N, Bardakjian T, Thompson S, Schneider A, Semina EV. ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes. Eur J Hum Genet. 2023 Mar;31(3):363-367 PMID: 36450800 PMCID: PMC9995503 SCOPUS ID: 2-s2.0-85143135154 12/01/2022
Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 Dec 01;109(12):2270-2282 PMID: 36368327 PMCID: PMC9748253 SCOPUS ID: 2-s2.0-85143379858 11/12/2022
Ferre-Fernández JJ, Muheisen S, Thompson S, Semina EV. CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements. Hum Genomics. 2022 Oct 25;16(1):49 PMID: 36284357 PMCID: PMC9597995 SCOPUS ID: 2-s2.0-85140618755 10/27/2022