M. Ganapathi

发表

Functional Anatomy of Polycomb and Trithorax Chromatin Landscapes in Drosophila Embryos

Amos Tanay, Benjamin Leblanc, Bas Tolhuis, 2009, PLoS biology.

Role of intrinsic disorder in transient interactions of hub proteins

Debasis Dash, Gajinder Pal Singh, D. Dash, 2006, Proteins.

Extensive role of the general regulatory factors, Abf1 and Rap1, in determining genome-wide chromatin structure in budding yeast

M. Palumbo, C. Nislow, Qiye He, 2010, Nucleic acids research.

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

N. Brunetti‐Pierri, M. Mansukhani, F. Santos-Simarro, 2021, American journal of medical genetics. Part A.

A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function

W. Chung, Z. Valivullah, Miroslav P. Milev, 2020, Journal of Medical Genetics.

FTO variant associated with malformation syndrome

M. Ganapathi, K. Anyane-Yeboa, E. Guzmán, 2016, American journal of medical genetics. Part A.

A whole genome analysis of 5' regulatory regions of human genes for putative cis-acting modulators of nucleosome positioning.

K. Sandhu, S. Brahmachari, V. Brahmachari, 2007, Gene.

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

Christie M. Buchovecky, V. Jobanputra, S. Tsang, 2022, Scientific Reports.

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

Tam P. Sneddon, Andrew R. Grant, C. Betancur, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Causal Genetic Variants in Stillbirth.

Christie M. Buchovecky, D. Goldstein, C. Parker, 2020, The New England journal of medicine.

Impact of pre‐emptive rapid testing for glucose‐6‐phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care centre: A retrospective study

A. Kratz, V. Aggarwal, M. Ganapathi, 2022, British journal of clinical pharmacology.

De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission

R. Abou Jamra, H. Sticht, H. Taschenberger, 2022, Annals of neurology.

Distinct role of Mediator tail module in regulation of SAGA‐dependent, TATA‐containing genes in yeast

J. Benschop, F. Holstege, R. Morse, 2012, The EMBO journal.

An Analysis of Histone Modifications in Relation to Sex-Specific Chromatin Organization in the Mealybug Maconellicoccus hirsutus

V. Brahmachari, M. Ganapathi, G. Pande, 2010, Cytogenetic and Genome Research.

De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

H. Sticht, H. Taschenberger, N. Brose, 2021, medRxiv.

Comparative analysis of chromatin landscape in regulatory regions of human housekeeping and tissue specific genes

Kaushal Kumar, Samir K. Brahmachari, Mythily Ganapathi, 2005, BMC Bioinformatics.

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Christie M. Buchovecky, B. Honig, D. Petrey, 2020, Human Genetics.

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

W. Chung, Q. Waisfisz, B. Gelb, 2020, American journal of human genetics.

Prenatal Diagnosis of Chromosome Abnormalities

B. Levy, M. Ganapathi, Colleen G. Bilancia, 2020, Fetal Medicine.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Yufeng Shen, R. Ganetzky, C. Voisset, 2022, Journal of inherited metabolic disease.

Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series

D. Goldstein, S. Petrovski, V. Aggarwal, 2017, American journal of medical genetics. Part A.

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl

V. Jobanputra, B. Levy, M. Macera, 2022, Frontiers in genetics.

Joanna Wysocka wins ISSCR Outstanding Young Investigator Award.

S. Temple, Erzsebet Kokovay, M. Ganapathi, 2010, Cell stem cell.

Effect of Bmi1 over-expression on gene expression in adult and embryonic murine neural stem cells

R. Morse, S. Temple, Nathan C Boles, 2018, Scientific Reports.

Mining of putative cis-acting elements for chromatin mediated regulation of Hox genes in mammals by in-silico analysis.

V. Brahmachari, M. Ganapathi, G. Singh, 2007, Journal of experimental zoology. Part B, Molecular and developmental evolution.

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease

V. Jobanputra, S. Dimauro, J. Heymann, 2022, Cold Spring Harbor molecular case studies.

Detection of mosaic variants using genome sequencing in a large pediatric cohort

V. Jobanputra, B. Gelb, E. Kenny, 2022, American journal of medical genetics. Part A.

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

Teresa L. Mastracci, Leah R. Padgett, W. Chung, 2019, American journal of human genetics.

Bi‐allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families

W. Chung, H. Daum, S. Yagel, 2021, American journal of medical genetics. Part A.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

A. Munnich, D. Figarella-Branger, S. Küry, 2015, Orphanet Journal of Rare Diseases.

Intrinsic unstructuredness and abundance of PEST motifs in eukaryotic proteomes

Debasis Dash, Gajinder Pal Singh, Kuljeet Singh Sandhu, 2005, Proteins.

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review

D. Chitayat, T. Roscioli, Futao Zhang, 2023, American journal of medical genetics. Part A.

Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature

Volkan Okur, Wendy K. Chung, W. Chung, 2018, Cold Spring Harbor molecular case studies.

Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing

R. Stevenson, J. Liu, B. Levy, 2022, medRxiv.

Prenatal Diagnosis Using Chromosomal SNP Microarrays.

B. Levy, M. Ganapathi, O. Nahum, 2018, Methods in molecular biology.

Comparative analysis of protein unfoldedness in human housekeeping and non-housekeeping proteins

Debasis Dash, Kaushal Kumar, Neeraj Pandey, 2004, Bioinform..

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome

Christie M. Buchovecky, V. Jobanputra, M. Ganapathi, 2022, Cold Spring Harbor molecular case studies.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Genome Sequencing for Diagnosing Rare Diseases.

A. O’Donnell-Luria, B. Weisburd, M. Singer-Berk, 2024, The New England journal of medicine.

Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy

M. Ganapathi, Nan Jiang, Wenyuan Xu, 2024, European Journal of Medical Genetics.