| Year |
Citation |
Score |
| 2023 |
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, ... ... Mochida GH, et al. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. Jama Neurology. PMID 37486637 DOI: 10.1001/jamaneurol.2023.2363 |
0.334 |
|
| 2023 |
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, ... ... Mochida GH, et al. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. American Journal of Human Genetics. PMID 37054711 DOI: 10.1016/j.ajhg.2023.03.012 |
0.374 |
|
| 2021 |
Haag N, Tan EC, Begemann M, Buschmann L, Kraft F, Holschbach P, Lai AHM, Brett M, Mochida GH, DiTroia S, Pais L, Neil JE, Al-Saffar M, Bastaki L, Walsh CA, et al. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. European Journal of Human Genetics : Ejhg. PMID 34413497 DOI: 10.1038/s41431-021-00943-5 |
0.448 |
|
| 2019 |
Daly T, Roberts A, Yang E, Mochida GH, Bodamer O. Holoprosencephaly in Kabuki syndrome. American Journal of Medical Genetics. Part A. PMID 31846209 DOI: 10.1002/ajmg.a.61454 |
0.476 |
|
| 2019 |
Link N, Chung H, Jolly A, Withers M, Tepe B, Arenkiel BR, Shah PS, Krogan NJ, Aydin H, Geckinli BB, Tos T, Isikay S, Tuysuz B, Mochida GH, Thomas AX, et al. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Developmental Cell. PMID 31735666 DOI: 10.1016/J.Devcel.2019.10.009 |
0.404 |
|
| 2018 |
Khalil R, Kenny C, Hill RS, Mochida GH, Nasir R, Partlow JN, Barry BJ, Al-Saffar M, Egan C, Stevens CR, Gabriel SB, Barkovich AJ, Ellison JW, Al-Gazali L, Walsh CA, et al. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 30421579 DOI: 10.1002/ajmg.b.32688 |
0.601 |
|
| 2018 |
Coulter ME, Dorobantu CM, Lodewijk GA, Delalande F, Cianferani S, Ganesh VS, Smith RS, Lim ET, Xu CS, Pang S, Wong ET, Lidov HGW, Calicchio ML, Yang E, Gonzalez DM, ... ... Mochida GH, et al. The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Cell Reports. 24: 973-986.e8. PMID 30044992 DOI: 10.1016/J.Celrep.2018.06.100 |
0.327 |
|
| 2017 |
Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, ... ... Mochida GH, et al. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Research. PMID 28630177 DOI: 10.1101/Gr.219899.116 |
0.51 |
|
| 2017 |
Nakayama T, Wu J, Galvin-Parton P, Weiss J, Andriola MR, Hill RS, Vaughan D, El-Quessny M, Barry BJ, Partlow JN, Barkovich AJ, Ling J, Mochida GH. Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Human Mutation. PMID 28493438 DOI: 10.1002/Humu.23250 |
0.63 |
|
| 2016 |
Jayaraman D, Kodani A, Gonzalez DM, Mancias JD, Mochida GH, Vagnoni C, Johnson J, Krogan N, Harper JW, Reiter JF, Yu TW, Bae BI, Walsh CA. Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 92: 813-828. PMID 27974163 DOI: 10.1016/J.Neuron.2016.09.056 |
0.307 |
|
| 2016 |
Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, ... ... Mochida GH, et al. Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. Proceedings of the National Academy of Sciences of the United States of America. PMID 27601654 DOI: 10.1073/Pnas.1609221113 |
0.505 |
|
| 2015 |
Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. American Journal of Medical Genetics. Part A. PMID 26463574 DOI: 10.1002/Ajmg.A.37422 |
0.627 |
|
| 2015 |
Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, ... ... Mochida GH, et al. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. American Journal of Human Genetics. 96: 709-19. PMID 25865492 DOI: 10.1016/J.Ajhg.2015.03.003 |
0.63 |
|
| 2014 |
Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, et al. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 84: 1240-57. PMID 25521379 DOI: 10.1016/J.Neuron.2014.12.017 |
0.393 |
|
| 2014 |
Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. American Journal of Human Genetics. 94: 547-58. PMID 24656866 DOI: 10.1016/J.Ajhg.2014.03.003 |
0.651 |
|
| 2014 |
Reiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, ... ... Mochida GH, et al. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Human Molecular Genetics. 23: 3456-66. PMID 24501276 DOI: 10.1093/Hmg/Ddu054 |
0.369 |
|
| 2014 |
Adachi Y, Mochida G, Walsh C, Barkovich J. Posterior fossa in primary microcephaly: Relationships between forebrain and mid-hindbrain size in 110 patients Neuropediatrics. 45: 93-101. PMID 24234199 DOI: 10.1055/S-0033-1360483 |
0.463 |
|
| 2013 |
Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 77: 259-73. PMID 23352163 DOI: 10.1016/J.Neuron.2012.11.002 |
0.546 |
|
| 2013 |
Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Morales Sanchez M, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L. Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Human Mutation. 34: 498-505. PMID 23255084 DOI: 10.1002/humu.22263 |
0.593 |
|
| 2011 |
Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM, Hill RS, Barry BJ, Partlow JN, Gascon GG, Kentab A, Jan M, Shaheen R, Feng Y, Walsh CA. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. American Journal of Human Genetics. 88: 536-47. PMID 21529751 DOI: 10.1016/J.Ajhg.2011.04.003 |
0.53 |
|
| 2011 |
Alkuraya F, Cai X, Emery C, Mochida G, Al-Dosari M, Felie J, Hill R, Barry B, Partlow J, Gascon G, Kentab A, Jan M, Shaheen R, Feng Y, Walsh C. Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly The American Journal of Human Genetics. 88: 677. DOI: 10.1016/J.Ajhg.2011.04.020 |
0.512 |
|
| 2010 |
Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, et al. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. American Journal of Human Genetics. 87: 882-9. PMID 21109224 DOI: 10.1016/J.Ajhg.2010.10.026 |
0.565 |
|
| 2010 |
Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nature Genetics. 42: 1015-20. PMID 20890278 DOI: 10.1038/Ng.683 |
0.429 |
|
| 2010 |
Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA. Developmental and degenerative features in a complicated spastic paraplegia. Annals of Neurology. 67: 516-25. PMID 20437587 DOI: 10.1002/Ana.21923 |
0.5 |
|
| 2009 |
Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. American Journal of Human Genetics. 85: 897-902. PMID 20004763 DOI: 10.1016/j.ajhg.2009.10.027 |
0.444 |
|
| 2009 |
Mochida GH. Genetics and biology of microcephaly and lissencephaly. Seminars in Pediatric Neurology. 16: 120-6. PMID 19778709 DOI: 10.1016/j.spen.2009.07.001 |
0.399 |
|
| 2007 |
Rajab A, Manzini MC, Mochida GH, Walsh CA, Ross ME. A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. American Journal of Medical Genetics. Part A. 143: 2761-7. PMID 17975804 DOI: 10.1002/ajmg.a.31955 |
0.367 |
|
| 2006 |
Rajab A, Yoo SY, Abdulgalil A, Kathiri S, Ahmed R, Mochida GH, Bodell A, Barkovich AJ, Walsh CA. An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. American Journal of Medical Genetics. Part A. 140: 1504-10. PMID 16761294 DOI: 10.1002/ajmg.a.31288 |
0.301 |
|
| 2005 |
Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA. ASPM mutations identified in patients with primary microcephaly and seizures. Journal of Medical Genetics. 42: 725-9. PMID 16141009 DOI: 10.1136/Jmg.2004.027706 |
0.484 |
|
| 2005 |
Kouprina N, Pavlicek A, Collins NK, Nakano M, Noskov VN, Ohzeki J, Mochida GH, Risinger JI, Goldsmith P, Gunsior M, Solomon G, Gersch W, Kim JH, Barrett JC, Walsh CA, et al. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Human Molecular Genetics. 14: 2155-65. PMID 15972725 DOI: 10.1093/hmg/ddi220 |
0.33 |
|
| 2005 |
Mochida GH. Cortical malformation and pediatric epilepsy: a molecular genetic approach. Journal of Child Neurology. 20: 300-3. PMID 15921229 DOI: 10.1177/08830738050200040501 |
0.323 |
|
| 2004 |
Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, Noruzinia M, Sarda P, Ishihara J, Bodell A, Apse K, Walsh CA. Broader geographical spectrum of Cohen syndrome due to COH1 mutations. Journal of Medical Genetics. 41: e87. PMID 15173253 DOI: 10.1136/Jmg.2003.014779 |
0.537 |
|
| 2004 |
Mochida GH. Topical Review: Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach Journal of Child Neurology. 19: 300-303. DOI: 10.1177/08830738040190030501 |
0.325 |
|
| 2003 |
Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, et al. Protein-truncating mutations in ASPM cause variable reduction in brain size. American Journal of Human Genetics. 73: 1170-7. PMID 14574646 DOI: 10.1086/379085 |
0.575 |
|
| 2002 |
Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG. ASPM is a major determinant of cerebral cortical size. Nature Genetics. 32: 316-20. PMID 12355089 DOI: 10.1038/ng995 |
0.303 |
|
| 2001 |
Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, ... ... Mochida GH, et al. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Human Molecular Genetics. 10: 1775-83. PMID 11532987 DOI: 10.1093/Hmg/10.17.1775 |
0.404 |
|
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