Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 559 | 2015 |
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ... science 343 (6170), 506-511, 2014 | 559 | 2014 |
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ... The lancet neurology 12 (12), 1159-1169, 2013 | 421 | 2013 |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies SL Bielas, JL Silhavy, F Brancati, MV Kisseleva, L Al-Gazali, L Sztriha, ... Nature genetics 41 (9), 1032-1036, 2009 | 419 | 2009 |
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man K Tuschl, PT Clayton, SM Gospe, S Gulab, S Ibrahim, P Singhi, R Aulakh, ... The American Journal of Human Genetics 90 (3), 457-466, 2012 | 377 | 2012 |
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ... Nature genetics 48 (9), 1071-1076, 2016 | 343 | 2016 |
Exome sequencing can improve diagnosis and alter patient management TJ Dixon-Salazar, JL Silhavy, N Udpa, J Schroth, S Bielas, AE Schaffer, ... Science translational medicine 4 (138), 138ra78-138ra78, 2012 | 295 | 2012 |
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome A Guemez-Gamboa, LN Nguyen, H Yang, MS Zaki, M Kara, T Ben-Omran, ... Nature genetics 47 (7), 809-813, 2015 | 232 | 2015 |
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia C Tesson, M Nawara, MAM Salih, R Rossignol, MS Zaki, M Al Balwi, ... The American Journal of Human Genetics 91 (6), 1051-1064, 2012 | 214 | 2012 |
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium JE Lee, JL Silhavy, MS Zaki, J Schroth, SL Bielas, SE Marsh, J Olvera, ... Nature genetics 44 (2), 193-199, 2012 | 191 | 2012 |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 186 | 2019 |
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome MA Lancaster, DJ Gopal, J Kim, SN Saleem, JL Silhavy, CM Louie, ... Nature medicine 17 (6), 726-731, 2011 | 168 | 2011 |
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria MC O'Driscoll, SB Daly, JE Urquhart, GCM Black, DT Pilz, K Brockmann, ... The American Journal of Human Genetics 87 (3), 354-364, 2010 | 158 | 2010 |
AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders EM Valente, F Brancati, JL Silhavy, M Castori, SE Marsh, G Barrano, ... Annals of neurology 59 (3), 527-534, 2006 | 153 | 2006 |
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ... Nature genetics 47 (5), 528-534, 2015 | 139 | 2015 |
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome MT Handley, DJ Morris‐Rosendahl, S Brown, F Macdonald, C Hardy, ... Human mutation 34 (5), 686-696, 2013 | 128 | 2013 |
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome R Shaheen, M Aglan, K Keppler-Noreuil, E Faqeih, S Ansari, K Horton, ... The American Journal of Human Genetics 92 (4), 598-604, 2013 | 123 | 2013 |
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly N Di Donato, AE Timms, KA Aldinger, GM Mirzaa, JT Bennett, S Collins, ... Genetics in Medicine 20 (11), 1354-1364, 2018 | 118 | 2018 |
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors K Mishra-Gorur, AO Çağlayan, AE Schaffer, C Chabu, O Henegariu, ... Neuron 84 (6), 1226-1239, 2014 | 117 | 2014 |
Intraocular pressure in patients with diabetic macular edema treated with dexamethasone intravitreal implant in the 3-year MEAD study RK Maturi, A Pollack, HS Uy, M Varano, AMV Gomes, XY Li, H Cui, J Lou, ... Retina 36 (6), 1143-1152, 2016 | 115 | 2016 |