| Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ... Nature genetics 41 (7), 829-832, 2009 | 782 | 2009 |
| A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) J Muenzer, JE Wraith, M Beck, R Giugliani, P Harmatz, CM Eng, A Vellodi, ... Genetics in medicine 8 (8), 465-473, 2006 | 708 | 2006 |
| Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster T Sahoo, D Del Gaudio, JR German, M Shinawi, SU Peters, RE Person, ... Nature genetics 40 (6), 719-721, 2008 | 670 | 2008 |
| Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities N Brunetti-Pierri, JS Berg, F Scaglia, J Belmont, CA Bacino, T Sahoo, ... Nature genetics 40 (12), 1466-1471, 2008 | 663 | 2008 |
| Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size M Shinawi, P Liu, SHL Kang, J Shen, JW Belmont, DA Scott, FJ Probst, ... Journal of medical genetics 47 (5), 332-341, 2010 | 580 | 2010 |
| Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size M Shinawi, P Liu, SHL Kang, J Shen, JW Belmont, DA Scott, FJ Probst, ... Journal of medical genetics 47 (5), 332-341, 2010 | 580 | 2010 |
| The array CGH and its clinical applications M Shinawi, SW Cheung Drug discovery today 13 (17-18), 760-770, 2008 | 341 | 2008 |
| STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ... Neurology 86 (10), 954-962, 2016 | 308 | 2016 |
| TBX6 null variants and a common hypomorphic allele in congenital scoliosis N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, ... New England Journal of Medicine 372 (4), 341-350, 2015 | 271 | 2015 |
| Microdeletion 15q13. 3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders S Ben-Shachar, B Lanpher, JR German, M Qasaymeh, L Potocki, ... Journal of medical genetics 46 (6), 382-388, 2009 | 257 | 2009 |
| Familial Mediterranean fever: prevalence, penetrance and genetic drift R Gershoni-Baruch, M Shinawi, K Leah, K Badarnah, R Brik European Journal of Human Genetics 9 (8), 634-637, 2001 | 252 | 2001 |
| Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome J Muenzer, M Beck, CM Eng, R Giugliani, P Harmatz, R Martin, ... Genetics in Medicine 13 (2), 95-101, 2011 | 248 | 2011 |
| The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever R Gershoni‐Baruch, R Brik, N Zacks, M Shinawi, M Lidar, A Livneh Arthritis & Rheumatism: Official Journal of the American College of …, 2003 | 248 | 2003 |
| CpG island hypermethylation mediated by DNMT3A is a consequence of AML progression DH Spencer, DA Russler-Germain, S Ketkar, NM Helton, TL Lamprecht, ... Cell 168 (5), 801-816. e13, 2017 | 222 | 2017 |
| A small recurrent deletion within 15q13. 3 is associated with a range of neurodevelopmental phenotypes M Shinawi, CP Schaaf, SS Bhatt, Z Xia, A Patel, SW Cheung, B Lanpher, ... Nature genetics 41 (12), 1269-1271, 2009 | 212 | 2009 |
| Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients R Brik, M Shinawi, I Kepten, M Berant, R Gershoni-Baruch Pediatrics 103 (5), e70-e70, 1999 | 201 | 1999 |
| The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever R Gershoni-Baruch, R Brik, M Shinawi, A Livneh European Journal of Human Genetics 10 (2), 145-149, 2002 | 185 | 2002 |
| 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 | 184 | 2019 |
| A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism PBS Celestino-Soper, S Violante, EL Crawford, R Luo, AC Lionel, ... Proceedings of the National Academy of Sciences 109 (21), 7974-7981, 2012 | 153 | 2012 |
| Autism spectrum disorders D Amaral, D Geschwind, G Dawson Oxford University Press, 2011 | 145 | 2011 |
Sau W CheungProfessor of Molecular and Human Genetics, Baylor College of Medicinebcm.edu üzerinde doğrulanmış e-posta adresine sahip
