• 1257 Citations
  • 17 h-Index
1998 …2024

Research output per year

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Research Output

  • 1257 Citations
  • 17 h-Index
  • 34 Article
  • 2 Review article
  • 1 Chapter
  • 1 Short survey
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Article
2019

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

Lee, S., Chen, D. Y., Zaki, M. S., Maroofian, R., Houlden, H., Di Donato, N., Abdin, D., Morsy, H., Mirzaa, G. M., Dobyns, W. B., McEvoy-Venneri, J., Stanley, V., James, K. N., Mancini, G. M. S., Schot, R., Kalayci, T., Altunoglu, U., Karimiani, E. G., Brick, L., Kozenko, M. & 4 others, Jamshidi, Y., Manzini, M. C., Beiraghi Toosi, M. & Gleeson, J. G., Oct 3 2019, In : American Journal of Human Genetics. 105, 4, p. 844-853 10 p.

Research output: Contribution to journalArticle

1 Scopus citations

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J. M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., Sep 1 2019, In : Genetics in Medicine. 21, 9, p. 2059-2069 11 p.

Research output: Contribution to journalArticle

1 Scopus citations

Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability

Zamarbide, M., Mossa, A., Muñoz-Llancao, P., Wilkinson, M. K., Pond, H. L., Oaks, A. W. & Manzini, M. C., May 1 2019, In : Biological Psychiatry. 85, 9, p. 760-768 9 p.

Research output: Contribution to journalArticle

3 Scopus citations

Microsampling Capillary Electrophoresis Mass Spectrometry Enables Single-Cell Proteomics in Complex Tissues: Developing Cell Clones in Live Xenopus laevis and Zebrafish Embryos

Lombard-Banek, C., Moody, S. A., Manzini, M. C. & Nemes, P., Apr 2 2019, In : Analytical Chemistry. 91, 7, p. 4797-4805 9 p.

Research output: Contribution to journalArticle

15 Scopus citations

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

Cauley, E. S., Hamed, A., Mohamed, I. N., Elseed, M., Martinez, S., Yahia, A., Abozar, F., Abubakr, R., Koko, M., Elsayed, L., Piao, X., Salih, M. A. & Manzini, M. C., May 8 2019, In : Neurogenetics. 20, 2, p. 91-98 8 p.

Research output: Contribution to journalArticle

1 Scopus citations
2018

Enhanced Peptide Detection Toward Single-Neuron Proteomics by Reversed-Phase Fractionation Capillary Electrophoresis Mass Spectrometry

Choi, S. B., Lombard-Banek, C., Muñoz-LLancao, P., Manzini, M. C. & Nemes, P., May 1 2018, In : Journal of the American Society for Mass Spectrometry. 29, 5, p. 913-922 10 p.

Research output: Contribution to journalArticle

Open Access
15 Scopus citations

Loss of the intellectual disability and autism gene Cc2d1a and its Homolog Cc2d1b differentially affect spatial memory, anxiety, and hyperactivity

Zamarbide, M., Oaks, A. W., Pond, H. L., Adelman, J. S. & Manzini, M. C., Mar 2 2018, In : Frontiers in Genetics. 9, MAR, 65.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations
2017

Abrogated freud-1/Cc2d1a repression of 5-HT1A autoreceptors induces fluoxetine-resistant anxiety/ depression-like behavior

Vahid-Ansari, F., Daigle, M., Manzini, M. C., Tanaka, K. F., Hen, R., Geddes, S. D., Béïque, J. C., James, J., Merali, Z. & Albert, P. R., Dec 6 2017, In : Journal of Neuroscience. 37, 49, p. 11967-11978 12 p.

Research output: Contribution to journalArticle

Open Access
14 Scopus citations

CC2D1a loss of function disrupts functional and morphological development in forebrain neurons leading to cognitive and social deficits

Oaks, A. W., Zamarbide, M., Tambunan, D. E., Santini, E., Costanzo, S. D., Pond, H. L., Johnson, M. W., Lin, J., Gonzalez, D. M., Boehler, J. F., Wu, G. K., Klann, E., Walsh, C. A. & Chiara Manzini, M., Jan 1 2017, In : Cerebral Cortex. 27, 2, p. 1670-1685 16 p.

Research output: Contribution to journalArticle

Open Access
14 Scopus citations

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Osborn, D. P. S., Pond, H. L., Mazaheri, N., Dejardin, J., Munn, C. J., Mushref, K., Cauley, E. S., Moroni, I., Pasanisi, M. B., Sellars, E. A., Hill, R. S., Partlow, J. N., Willaert, R. K., Bharj, J., Malamiri, R. A., Galehdari, H., Shariati, G., Maroofian, R., Mora, M., Swan, L. E. & 4 others, Voit, T., Conti, F. J., Jamshidi, Y. & Manzini, M. C., Mar 2 2017, In : American Journal of Human Genetics. 100, 3, p. 537-545 9 p.

Research output: Contribution to journalArticle

Open Access
14 Scopus citations

Tapered-Tip Capillary Electrophoresis Nano-Electrospray Ionization Mass Spectrometry for Ultrasensitive Proteomics: the Mouse Cortex

Choi, S. B., Zamarbide, M., Manzini, M. C. & Nemes, P., Apr 1 2017, In : Journal of the American Society for Mass Spectrometry. 28, 4, p. 597-607 11 p.

Research output: Contribution to journalArticle

Open Access
27 Scopus citations

Translating genetic and preclinical findings into autism therapies

Chahrour, M., Kleiman, R. J. & Manzini, M. C., Dec 1 2017, In : Dialogues in Clinical Neuroscience. 19, 4, p. 335-343 9 p.

Research output: Contribution to journalArticle

2016

Current perspectives in autism spectrum disorder: From genes to therapy

Chahrour, M., O’Roak, B. J., Santini, E., Samaco, R. C., Kleiman, R. J. & Manzini, M. C., Nov 9 2016, In : Journal of Neuroscience. 36, 45, p. 11402-11410 9 p.

Research output: Contribution to journalArticle

Open Access
28 Scopus citations

Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis

Ardiccioni, C., Clarke, O. B., Tomasek, D., Issa, H. A., Von Alpen, D. C., Pond, H. L., Banerjee, S., Rajashankar, K. R., Liu, Q., Guan, Z., Li, C., Kloss, B., Bruni, R., Kloppmann, E., Rost, B., Manzini, M. C., Shapiro, L. & Mancia, F., Jan 5 2016, In : Nature communications. 7, 10175.

Research output: Contribution to journalArticle

Open Access
17 Scopus citations

Structure of the STRA6 receptor for retinol uptake

Chen, Y., Clarke, O. B., Kim, J., Stowe, S., Kim, Y. K., Assur, Z., Cavalier, M., Godoy-Ruiz, R., Von Alpen, D. C., Manzini, C., Blaner, W. S., Frank, J., Quadro, L., Weber, D. J., Shapiro, L., Hendrickson, W. A. & Mancia, F., Jan 1 2016, In : Science. 353, 6302, aad8266.

Research output: Contribution to journalArticle

45 Scopus citations
2014

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis

Chiara Manzini, M., Xiong, L., Shaheen, R., Tambunan, D. E., Di Costanzo, S., Mitisalis, V., Tischfield, D. J., Cinquino, A., Ghaziuddin, M., Christian, M., Jiang, Q., Laurent, S., Nanjiani, Z. A., Rasheed, S., Sean Hill, R., Lizarraga, S. B., Gleason, D., Sabbagh, D., Salih, M. A., Alkuraya, F. S. & 1 others, Walsh, C. A., Aug 7 2014, In : Cell Reports. 8, 3, p. 647-655 9 p.

Research output: Contribution to journalArticle

Open Access
31 Scopus citations

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Di Costanzo, S., Balasubramanian, A., Pond, H. L., Rozkalne, A., Pantaleoni, C., Saredi, S., Gupta, V. A., Sunu, C. M., Yu, T. W., Kang, P. B., Salih, M. A., Mora, M., Gussoni, E., Walsh, C. A. & Manzini, M. C., Nov 1 2014, In : Human molecular genetics. 23, 21, p. 5781-5792 12 p.

Research output: Contribution to journalArticle

Open Access
35 Scopus citations
2013

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

Stevens, E., Carss, K. J., Cirak, S., Foley, A. R., Torelli, S., Willer, T., Tambunan, D. E., Yau, S., Brodd, L., Sewry, C. A., Feng, L., Haliloglu, G., Orhan, D., Dobyns, W. B., Enns, G. M., Manning, M., Krause, A., Salih, M. A., Walsh, C. A., Hurles, M. & 5 others, Campbell, K. P., Manzini, M. C., Stemple, D., Lin, Y. Y. & Muntoni, F., Mar 7 2013, In : American Journal of Human Genetics. 92, 3, p. 354-365 12 p.

Research output: Contribution to journalArticle

Open Access
115 Scopus citations
2012

A splice site mutation in Laminin-α2 results in a severe muscular dystrophy and growth abnormalities in Zebrafish

Gupta, V. A., Kawahara, G., Myers, J. A., Chen, A. T., Hall, T. E., Manzini, M. C., Currie, P. D., Zhou, Y., Zon, L. I., Kunkel, L. M. & Beggs, A. H., Aug 27 2012, In : PloS one. 7, 8, e43794.

Research output: Contribution to journalArticle

Open Access
26 Scopus citations

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome

Manzini, M. C., Tambunan, D. E., Hill, R. S., Yu, T. W., Maynard, T. M., Heinzen, E. L., Shianna, K. V., Stevens, C. R., Partlow, J. N., Barry, B. J., Rodriguez, J., Gupta, V. A., Al-Qudah, A. K., Eyaid, W. M., Friedman, J. M., Salih, M. A., Clark, R., Moroni, I., Mora, M., Beggs, A. H. & 2 others, Gabriel, S. B. & Walsh, C. A., Sep 7 2012, In : American Journal of Human Genetics. 91, 3, p. 541-547 7 p.

Research output: Contribution to journalArticle

Open Access
120 Scopus citations

Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12-p13.13 deletion

Marangi, G., Orteschi, D., Vigevano, F., Felie, J., Walsh, C. A., Manzini, M. C. & Neri, G., Apr 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 4, p. 888-893 6 p.

Research output: Contribution to journalArticle

7 Scopus citations
2011

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and walker-warburg syndrome in humans

Labelle-Dumais, C., Dilworth, D. J., Harrington, E. P., de Leau, M., Lyons, D., Kabaeva, Z., Manzini, M. C., Dobyns, W. B., Walsh, C. A., Michele, D. E. & Gould, D. B., May 1 2011, In : PLoS genetics. 7, 5, e1002062.

Research output: Contribution to journalArticle

Open Access
85 Scopus citations

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2

Di Blasi, C., Bellafiore, E., Salih, M. A. M., Manzini, M. C., Moore, S. A., Seidahmed, M. Z., Mukhtar, M. M., Karrar, Z. A., Walsh, C. A., Campbell, K. P., Mantegazza, R., Morandi, L. & Mora, M., Dec 14 2011, In : BMC Research Notes. 4, 534.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations
2010

Developmental and degenerative features in a complicated spastic paraplegia

Manzini, M. C., Rajab, A., Maynard, T. M., Mochida, G. H., Tan, W. H., Nasir, R., Sean Hill, R., Gleason, D., Saffar, M. A., Partlow, J. N., Barry, B. J., Vernon, M., LaMantia, A. S. & Walsh, C. A., Apr 1 2010, In : Annals of Neurology. 67, 4, p. 516-525 10 p.

Research output: Contribution to journalArticle

20 Scopus citations

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

Birk, E., Har-Zahav, A., Manzini, C. M., Pasmanik-Chor, M., Kornreich, L., Walsh, C. A., Noben-Trauth, K., Albin, A., Simon, A. J., Colleaux, L., Morad, Y., Rainshtein, L., Tischfield, D. J., Wang, P., Magal, N., Maya, I., Shoshani, N., Rechavi, G., Gothelf, D., Maydan, G. & 2 others, Shohat, M. & Basel-Vanagaite, L., Nov 12 2010, In : American Journal of Human Genetics. 87, 5, p. 694-700 7 p.

Research output: Contribution to journalArticle

Open Access
13 Scopus citations
2009

lsolation and culture of post-natal mouse cerebellar granule neuron progenitor cells and neurons

Lee, H. Y., Greene, L. A., Mason, C. A. & Manzini, M. C., Jan 1 2009, In : Journal of Visualized Experiments. 23, e990.

Research output: Contribution to journalArticle

51 Scopus citations
2008

Ethnically diverse causes of walker-warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the middle east

Manzini, M. C., Gleason, D., Chang, B. S., Hill, R. S., Barry, B. J., Partlow, J. N., Poduri, A., Currier, S., Galvin-Parton, P., Shapiro, L. R., Schmidt, K., Davis, J. G., Basel-Vanagaite, L., Seidahmed, M. Z., Salih, M. A. M., Dobyns, W. B. & Walsh, C. A., Nov 1 2008, In : Human mutation. 29, 11, p. E231-E241

Research output: Contribution to journalArticle

47 Scopus citations

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene

Teber, S., Sezer, T., Kafali, M., Chiara Manzini, M., Konuk Yüksel, B., Tekin, M., Fitöz, S., Walsh, C. A. & Deda, G., Mar 1 2008, In : European Journal of Paediatric Neurology. 12, 2, p. 133-136 4 p.

Research output: Contribution to journalArticle

17 Scopus citations
2007

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

Rajab, A., Manzini, M. C., Mochida, G. H., Walsh, C. A. & Ross, M. E., Dec 1 2007, In : American Journal of Medical Genetics, Part A. 143, 23, p. 2761-2767 7 p.

Research output: Contribution to journalArticle

15 Scopus citations

Differential effects of AMPA receptor activation on survival and neurite integrity during neuronal development

Manzini, M. C., Joseph, D. J., MacDermott, A. B. & Mason, C. A., Jun 1 2007, In : Molecular and Cellular Neuroscience. 35, 2, p. 328-338 11 p.

Research output: Contribution to journalArticle

3 Scopus citations
2006

The stop signal revised: Immature cerebellar granule neurons in the external germinal layer arrest pontine mossy fiber growth

Manzini, M. C., Ward, M. S., Zhang, Q., Lieberman, M. D. & Mason, C. A., Sep 8 2006, In : Journal of Neuroscience. 26, 22, p. 6040-6051 12 p.

Research output: Contribution to journalArticle

Open Access
34 Scopus citations
2004

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B

Bione, S., Rizzolio, F., Sala, C., Ricotti, R., Goegan, M., Manzini, M. C., Battaglia, R., Marozzi, A., Vegetti, W., Dalprà, L., Crosignani, P. G., Ginelli, E., Nappi, R., Bernabini, S., Bruni, V., Torricelli, F., Zuffardi, O. & Toniolo, D., Dec 2004, In : Human Reproduction. 19, 12, p. 2759-2766 8 p.

Research output: Contribution to journalArticle

Open Access
62 Scopus citations
2001

Kainate receptors expressed by a subpopulation of developing nociceptors rapidly switch from high to low Ca2+ permeability

Lee, C. J., Kong, H., Manzini, M. C., Albuquerque, C., Chao, M. V. & MacDermott, A. B., Jul 1 2001, In : Journal of Neuroscience. 21, 13, p. 4572-4581 10 p.

Research output: Contribution to journalArticle

61 Scopus citations
1998

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: Evidence for conserved function in oogenesis and implications for human sterility

Bione, S., Sala, C., Manzini, C., Arrigo, G., Zuffardi, O., Banfi, S., Borsani, G., Jonveaux, P., Philippe, C., Zuccotti, M., Ballabio, A. & Toniolo, D., Mar 1998, In : American Journal of Human Genetics. 62, 3, p. 533-541 9 p.

Research output: Contribution to journalArticle

Open Access
205 Scopus citations