Selected Publications
For a full list click here.
We are big fans of open access. Please click on the links to download our papers. Manzini lab members and trainees are listed in blue.
2024
Flannery K.P.*, Safwat S.*, Matsell E., Battula N., Hamed A.A.A., Mohamed I.N., Elseed M.A., Koko M., Abubaker R., Abozar F., Elsayed L.E.O., Bhise V., Molday R.S., Salih M.A., Yahia A., Manzini M.C. A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes neurogenetics in press (2024) *contributed equally
Bhattacharya A., Parlanti P., Cavallo L., Farrow E., Spivey T., Renieri A., Mari F., Manzini M.C. A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A. Hum Mol Genet 33(14):1229-1240 (2024) Available online at OUP
Safwat S.*, Flannery K.F.*, El Beheiry A.A., Mokhtar M.M., Abdalla E., Manzini M.C. Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: a report of 11 families. neurogenetics 25(2):93-102 (2024) *contributed equally Open access at Springer
Karas B.F.*, Terez K.R.*, Mowla S., Battula N., Gural B.M., Flannery K.P., Aboussleman G., Mubin N., Manzini M.C. Removal of pomt1 in zebrafish leads to loss of alpha-dystroglycan glycosylation and dystroglycanopathy phenotypes, Hum Mol Genet 33(8):709-723 (2024) *contributed equally Available online at OUP
Karuppasamy M., English K.G., Henry C.A., Maves L., Manzini M.C., Parant J.M., Wright M.A., Ruparelia A.A., Currie P.D., Gupta V.A., Dowling J.J., Alexander M.S. Standardization of zebrafish drug testing parameters for muscle disease, Dis Model Mech 17(1):dmm050339 (2024) Special Article on DMM
2023
Burbano D., Senthilkumar S., Manzini M.C. Exploring emotional contagion in zebrafish: a virtual-demonstrator study of positive and negative emotions, Behav Processes 213:104961 Link here
Shukla D., Gural B.M., Cauley E.S., Battula N., Mowla S., Roberts L.E., Karas B.F., Cavallo L., Turkalj L., Moody S.A., Swan L.E., Manzini M.C. Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function, Dev Genes Evol 233(1):25-34 Free from Spinger
2022
Acheta J., Jeanette H., Brar S., Hong J., Feltri M.L., Manzini M.C., Belin S., Poitelon Y. Cc2d1b contributes to the regulation of developmental myelination in the central nervous system, Front Mol Neurosci, 15:881571
2021
Bhattacharya A., Manzini M.C. Unraveling the mysteries of MYT1L: From reprogramming factor to multifaceted regulator of neuronal differentiation Neuron 109(23):3713-3715 (Invited Preview)
Pond H.L., Heller A.T., Gural B.M., McKissick O.P., Wilkinson M.K., Manzini M.C. Digging behavior discrimination test to probe burrowing and exploratory digging in male and female mice. J Neurosci Res 99(():2046-2058 Free from Wiley
Choi S.B., Muñoz Llancao P.A., Manzini M.C., Nemes P. Data-Dependent Acquisition Ladder for Capillary Electrophoresis Mass Spectrometry-Based Ultrasensitive (Neuro)Proteomics, Anal Chem 93(48):15964-15972
2020
Cauley E.S., Pittman A., Mummidivarpu S., Karimiani E.G., Martinez S., Moroni I., Podini D., Mora M., Jamshidi Y., Hoffman E.P., Manzini M.C. Novel mutation identification and copy-number variant detection via exome sequencing in congenital muscular dystrophy Mol Genet Genom Med 8(11):e1387
Del Cano-Ochoa F., Ng B.G., Abedalthagafi M., Almannai M., Cohn R.D., Costain G., Elpeleg O., Houlden H., Karimiani E.G., Liu P., Manzini M.C., Maroofian R., Muriello M., Al-Otaibi, A., Patel H., Shimon E., Sutton V.R., Beiraghi Toosi M., Wolfe L.A., Rosenfeld J.A., Freeze H.H., Ramon-Maiques S. Cell-based analysis of CAD variants identified cases likely to benefit from uridine therapy Genetics in Medicine 22(10):1598-1605 doi: 10.1038/s41436-020-0833-2 Free from NPG
Saredi S, Cauley E.S., Spivey T., Ardissone A., Ruggieri R., Mora M., Moroni I., Manzini M.C. Myopathy associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK Muscle and Nerve 62(2):266-271 doi: 10.1002/mus.26907 Wiley
Mossa A., Manzini M.C. Molecular causes of sex-specific deficits in animal models of neurodevelopmental disorders J Neurosci Res in press doi: 10.1002/jnr.24577 Free from Wiley
2019
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., Jamshidi Y., Manzini M.C., Toosi M.B., Gleeson J.G., Biallelic loss of human APC2, encoding adenomatous polyposis coli protein 2, leads to lissencephaly, subcortical heterotopia, and global developmental delay Am J Hum Genet 105(4):844-853 Free from CellPress
Cauley E.S., Hamed S., Mohammed I., Elseed M., Martinez S., Yahia A., Abozar F., Abubakr R., Koko M., Elsayed L., Piao X., Salih M.A., Manzini M.C. Overlap of polymicrogyria, hydrocephalus, and Joubert Syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556 Neurogenetics 20(2):91-98 Free from Springer
Lombard-Banek C., Moody S.A., Manzini M.C., Nemes P. Single cell proteomics of live differentiating cells using microprobe mass spectrometry Analytical Chemistry 91(7)-4797-4805 Epub from ACS
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., Ornstein N., Litwin J.R., Berg J.N., Amiel J., Heron D., Keren B., Cobben J.M., Menke L., Marco E.J., Pierson T.M., Graham J., Ghayoor Karimiani E., Maroofian R., Cauley E.S., Manzini M.C., Colombo R., Odent S., Dubourg C., Phornphutkul C., de Brouwer A.P.M., de Vries B.B.A., Vulto-vanSilfhout A.T. De novo and biallelic DEAF1 variants cause a phenotypic spectrum Genetics in Medicine 21(9):2059-2069 Free from NPG
Zamarbide M., Mossa A., Munoz Llancao P., Wilkinson M.K., Pond H.L., Oaks A.W., Manzini M.C. Male-specific cAMP signaling in the hippocampus controls spatial memory deficits in a mouse model of autism and intellectual disability Biol Psych 85(9):760-768 Epub from BPS
2018
Choi S.B., Lombard-Banek C., Munoz-LLancao P., Manzini M.C., Nemes P. Enhanced Peptide Detection Toward Single-Neuron Proteomics by Reversed-Phase Fractionation Capillary Electrophoresis Mass Spectrometry J Am Soc Mass Spectrom 29(5):913-922 Free from Springer
Zamarbide M., Oaks A.W., Pond H.L., Adelman J.S., Manzini M.C. Loss of the intellectual disability and autism gene Cc2d1a and its homolog Cc2d1b differentially affect spatial memory, anxiety and hyperactivity Front Genet 9:65 Free from Frontiers
2017
Chahrour M., Kleiman R.J., Manzini M.C. Translating genetic and preclinical findings into autism therapies. Dialogues Clin Neurosci 19(4):335-343 Free from DCN
Vahid-Ansari F., Daigle M., Manzini M.C., Tanaka K.F., Hen R., Geddes S.D., Beique J.C., James J., Merali Z., Albert P.R. Abrogated Freud-1/CC2D1A repression of 5-HT1A autoreceptors induces fluoxetine-resistant anxiety/depression-like behavior J Neurosci 37(49):11967-11978
Osborn D., 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., Voit T., Conti F.J., Jamshidi Y., Manzini M.C. Mutations in INPP5K cause a form of congenital muscular dystrophy syndrome overlapping Marinesco-Sjögren Syndrome and the dystroglycanopathies Am J Hum Genet 100(3):537-545 Free from AJHG
Oaks A.W., Zamarbide M., Tambunan D.E., Santini E., Di Costanzo S., Pond H.L., Johnson M.W., Lin J., Gonzalez D.M., Boehler J.F., Wu G.K., Klann E., Walsh C.A., Manzini M.C. Cc2d1a loss of function disrupts functional and morphological development in forebrain neurons leading to cognitive and social deficits. Cer Cortex 27(2)-1670-1685
2016
Chahrour M., O'Roak B.J., Santini E., Samaco R.C., Kleiman R.J., Manzini M.C. Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy J Neurosci 36(45):11402-11410
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. Structure of the polyisoprenyl-phosphate glycotransferase GtrB and mechanistic insight. Nat Comm, 7:10175 Free from Nat Comm
2015
Manzini M.C., Walsh C.A. The genetics of cortical malformations. in The Genetics of Neurodevelopmental Disorders, edited by K.J. Mitchell, Wiley Blackwell Buy it on Amazon
2014
Manzini M.C., Xiong L., Shaheen R., Tambunan D.E., Di Costanzo S., Mitisalis V., Cinquino A., Ghaziuddin M., Jiang Q., Laurent S., Nanjiani Z.A., Rasheed S., Hill R.S., Lizarraga S.B., Gleason D., Sabbagh D., Salih M.A., Al Kuraya F.S., Walsh C.A. CC2D1A regulates human intellectual and social function, and NF-kappaB signaling homeostasis. Cell Reports 8:1-9 Open Access @ Cell Press
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. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet 23:5781-5792 Free in PMC
Flannery K.P.*, Safwat S.*, Matsell E., Battula N., Hamed A.A.A., Mohamed I.N., Elseed M.A., Koko M., Abubaker R., Abozar F., Elsayed L.E.O., Bhise V., Molday R.S., Salih M.A., Yahia A., Manzini M.C. A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes neurogenetics in press (2024) *contributed equally
Bhattacharya A., Parlanti P., Cavallo L., Farrow E., Spivey T., Renieri A., Mari F., Manzini M.C. A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A. Hum Mol Genet 33(14):1229-1240 (2024) Available online at OUP
Safwat S.*, Flannery K.F.*, El Beheiry A.A., Mokhtar M.M., Abdalla E., Manzini M.C. Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: a report of 11 families. neurogenetics 25(2):93-102 (2024) *contributed equally Open access at Springer
Karas B.F.*, Terez K.R.*, Mowla S., Battula N., Gural B.M., Flannery K.P., Aboussleman G., Mubin N., Manzini M.C. Removal of pomt1 in zebrafish leads to loss of alpha-dystroglycan glycosylation and dystroglycanopathy phenotypes, Hum Mol Genet 33(8):709-723 (2024) *contributed equally Available online at OUP
Karuppasamy M., English K.G., Henry C.A., Maves L., Manzini M.C., Parant J.M., Wright M.A., Ruparelia A.A., Currie P.D., Gupta V.A., Dowling J.J., Alexander M.S. Standardization of zebrafish drug testing parameters for muscle disease, Dis Model Mech 17(1):dmm050339 (2024) Special Article on DMM
2023
Burbano D., Senthilkumar S., Manzini M.C. Exploring emotional contagion in zebrafish: a virtual-demonstrator study of positive and negative emotions, Behav Processes 213:104961 Link here
Shukla D., Gural B.M., Cauley E.S., Battula N., Mowla S., Roberts L.E., Karas B.F., Cavallo L., Turkalj L., Moody S.A., Swan L.E., Manzini M.C. Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function, Dev Genes Evol 233(1):25-34 Free from Spinger
2022
Acheta J., Jeanette H., Brar S., Hong J., Feltri M.L., Manzini M.C., Belin S., Poitelon Y. Cc2d1b contributes to the regulation of developmental myelination in the central nervous system, Front Mol Neurosci, 15:881571
2021
Bhattacharya A., Manzini M.C. Unraveling the mysteries of MYT1L: From reprogramming factor to multifaceted regulator of neuronal differentiation Neuron 109(23):3713-3715 (Invited Preview)
Pond H.L., Heller A.T., Gural B.M., McKissick O.P., Wilkinson M.K., Manzini M.C. Digging behavior discrimination test to probe burrowing and exploratory digging in male and female mice. J Neurosci Res 99(():2046-2058 Free from Wiley
Choi S.B., Muñoz Llancao P.A., Manzini M.C., Nemes P. Data-Dependent Acquisition Ladder for Capillary Electrophoresis Mass Spectrometry-Based Ultrasensitive (Neuro)Proteomics, Anal Chem 93(48):15964-15972
2020
Cauley E.S., Pittman A., Mummidivarpu S., Karimiani E.G., Martinez S., Moroni I., Podini D., Mora M., Jamshidi Y., Hoffman E.P., Manzini M.C. Novel mutation identification and copy-number variant detection via exome sequencing in congenital muscular dystrophy Mol Genet Genom Med 8(11):e1387
Del Cano-Ochoa F., Ng B.G., Abedalthagafi M., Almannai M., Cohn R.D., Costain G., Elpeleg O., Houlden H., Karimiani E.G., Liu P., Manzini M.C., Maroofian R., Muriello M., Al-Otaibi, A., Patel H., Shimon E., Sutton V.R., Beiraghi Toosi M., Wolfe L.A., Rosenfeld J.A., Freeze H.H., Ramon-Maiques S. Cell-based analysis of CAD variants identified cases likely to benefit from uridine therapy Genetics in Medicine 22(10):1598-1605 doi: 10.1038/s41436-020-0833-2 Free from NPG
Saredi S, Cauley E.S., Spivey T., Ardissone A., Ruggieri R., Mora M., Moroni I., Manzini M.C. Myopathy associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK Muscle and Nerve 62(2):266-271 doi: 10.1002/mus.26907 Wiley
Mossa A., Manzini M.C. Molecular causes of sex-specific deficits in animal models of neurodevelopmental disorders J Neurosci Res in press doi: 10.1002/jnr.24577 Free from Wiley
2019
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., Jamshidi Y., Manzini M.C., Toosi M.B., Gleeson J.G., Biallelic loss of human APC2, encoding adenomatous polyposis coli protein 2, leads to lissencephaly, subcortical heterotopia, and global developmental delay Am J Hum Genet 105(4):844-853 Free from CellPress
Cauley E.S., Hamed S., Mohammed I., Elseed M., Martinez S., Yahia A., Abozar F., Abubakr R., Koko M., Elsayed L., Piao X., Salih M.A., Manzini M.C. Overlap of polymicrogyria, hydrocephalus, and Joubert Syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556 Neurogenetics 20(2):91-98 Free from Springer
Lombard-Banek C., Moody S.A., Manzini M.C., Nemes P. Single cell proteomics of live differentiating cells using microprobe mass spectrometry Analytical Chemistry 91(7)-4797-4805 Epub from ACS
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., Ornstein N., Litwin J.R., Berg J.N., Amiel J., Heron D., Keren B., Cobben J.M., Menke L., Marco E.J., Pierson T.M., Graham J., Ghayoor Karimiani E., Maroofian R., Cauley E.S., Manzini M.C., Colombo R., Odent S., Dubourg C., Phornphutkul C., de Brouwer A.P.M., de Vries B.B.A., Vulto-vanSilfhout A.T. De novo and biallelic DEAF1 variants cause a phenotypic spectrum Genetics in Medicine 21(9):2059-2069 Free from NPG
Zamarbide M., Mossa A., Munoz Llancao P., Wilkinson M.K., Pond H.L., Oaks A.W., Manzini M.C. Male-specific cAMP signaling in the hippocampus controls spatial memory deficits in a mouse model of autism and intellectual disability Biol Psych 85(9):760-768 Epub from BPS
2018
Choi S.B., Lombard-Banek C., Munoz-LLancao P., Manzini M.C., Nemes P. Enhanced Peptide Detection Toward Single-Neuron Proteomics by Reversed-Phase Fractionation Capillary Electrophoresis Mass Spectrometry J Am Soc Mass Spectrom 29(5):913-922 Free from Springer
Zamarbide M., Oaks A.W., Pond H.L., Adelman J.S., Manzini M.C. Loss of the intellectual disability and autism gene Cc2d1a and its homolog Cc2d1b differentially affect spatial memory, anxiety and hyperactivity Front Genet 9:65 Free from Frontiers
2017
Chahrour M., Kleiman R.J., Manzini M.C. Translating genetic and preclinical findings into autism therapies. Dialogues Clin Neurosci 19(4):335-343 Free from DCN
Vahid-Ansari F., Daigle M., Manzini M.C., Tanaka K.F., Hen R., Geddes S.D., Beique J.C., James J., Merali Z., Albert P.R. Abrogated Freud-1/CC2D1A repression of 5-HT1A autoreceptors induces fluoxetine-resistant anxiety/depression-like behavior J Neurosci 37(49):11967-11978
Osborn D., 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., Voit T., Conti F.J., Jamshidi Y., Manzini M.C. Mutations in INPP5K cause a form of congenital muscular dystrophy syndrome overlapping Marinesco-Sjögren Syndrome and the dystroglycanopathies Am J Hum Genet 100(3):537-545 Free from AJHG
Oaks A.W., Zamarbide M., Tambunan D.E., Santini E., Di Costanzo S., Pond H.L., Johnson M.W., Lin J., Gonzalez D.M., Boehler J.F., Wu G.K., Klann E., Walsh C.A., Manzini M.C. Cc2d1a loss of function disrupts functional and morphological development in forebrain neurons leading to cognitive and social deficits. Cer Cortex 27(2)-1670-1685
2016
Chahrour M., O'Roak B.J., Santini E., Samaco R.C., Kleiman R.J., Manzini M.C. Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy J Neurosci 36(45):11402-11410
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. Structure of the polyisoprenyl-phosphate glycotransferase GtrB and mechanistic insight. Nat Comm, 7:10175 Free from Nat Comm
2015
Manzini M.C., Walsh C.A. The genetics of cortical malformations. in The Genetics of Neurodevelopmental Disorders, edited by K.J. Mitchell, Wiley Blackwell Buy it on Amazon
2014
Manzini M.C., Xiong L., Shaheen R., Tambunan D.E., Di Costanzo S., Mitisalis V., Cinquino A., Ghaziuddin M., Jiang Q., Laurent S., Nanjiani Z.A., Rasheed S., Hill R.S., Lizarraga S.B., Gleason D., Sabbagh D., Salih M.A., Al Kuraya F.S., Walsh C.A. CC2D1A regulates human intellectual and social function, and NF-kappaB signaling homeostasis. Cell Reports 8:1-9 Open Access @ Cell Press
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. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet 23:5781-5792 Free in PMC