Publications

2018


Marie, C., Clavairoly, A., Frah, M., Hmidan, H., Yan, J., Zhao, C., Van Steenwinckel, J., Daveau, R., Zalc, B., Hassan, B., Thomas, J. L., Gressens, P., Ravassard, P., Moszer, I., Martin, D. M., Lu, Q. R., Parras, C. Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8. Proc Natl Acad Sci U S A (2018) Aug; 115 (35) E8246-E8255

Martin, D. M., Rathmell, W. K., Tavazoie, S. F. Balancing dual demands on the physician-scientist workforce. J Clin Invest (2018) Aug; 128(8): 3204-3205

Zhao, C., Dong, C., Frah, M., Deng, Y., Marie, C., Zhang, F., Xu, L., Ma, Z., Dong, X., Lin, Y., Koenig, S., Nait-Oumesmar, B., Martin, D. M., Wu, L. N., Xin, M., Zhou, W., Parras, C., Lu, Q. R. Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair. Dev Cell (2018) Jun; 46 (6): 753-768 e8

Yao, H., Hill, S. F., Skidmore, J. M., Sperry, E. D., Swiderski, D. L., Sanchez, G. J., Bartels, C. F., Raphael, Y., Scacheri, P. C., Iwase, S., Martin, D. M. CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development. JCI Insight (2018) Feb; 3 (4)

Jordan V K, Fregeau B, Ge, X. Giordano, J. Wapner, R. J., Balci, T. B., Carter, M. T., Bernat, J. A., Moccia, A. N., Srivastava, A., Martin, D. M., Bielas, S. L., Pappas, J., Svoboda, M. D., Rio, M., Boddaert, N., Cantagrel, V., Lewis, A. M., Scaglia, F., Undiagnosed Diseases, Network, Kohler, J. N., Bernstein, J. A., Dries, A. M., Rosenfeld, J. A., DeFilippo, C., Thorson, W., Yang, Y., Sherr, E. H., Bi, W., Scott, D. A. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat (2018) May; 39(5): 666-675

Belanger C, Berube-Simard FA, Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N. Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. Proc Natl Acad Sci U S A (2018) Jan; 115 (4): E620-E629

Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med (2018) Sep; 20(9): 1022-1029

Iwase S, Martin DM. Chromatin in nervous system development and disease. Mol Cell Neurosci (2018) Mar; 87: 1-3

Moccia A, Martin DM. Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers. Mol Cell Neurosci (2018) Mar; 87: 46-54

Kong F, Martin DM. Atopic disorders in CHARGE syndrome: A retrospective study and literature review. Eur J Med Genet (2018) Apr; 61(4): 225-229


2017

Charoy C, DInvaut S, Chaix Y, Morlé L, Sanyas I, Bozon M, Kindbeiter K, Durand B, Skidmore J, De Groef L, Seki M, Moons L, Ruhrberg C, Martin JF, Martin DM, Falk J, Castellani V. Genetic specification of left-right asymmetry in the diaphragm muscles and their motor innveration. eLife (2017) Jun;6. [PubMeD]

Van Ravenswaaij-Arts CMA, Blake K, Martin DM. Support for the Diagnosis of CHARGE Syndrome. JAMA Otolaryngol Head Neck Surg (2017) Jun;143(6):634-635. [PubMed]

Martin DM, Raphael Y. It’s All in the Delivery: Improving AAV Transfection Efficiency with Exosomes.  Mol Ther (2017) Feb;25 (2): 309-311. [PubMed]

Velasquez F, Wiggins JL, Mattson WI, Martin DM, Lord C, Monk CS. The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior singulate cortex connectivity in autism spectrum disorder. Dev Cogn Neurosci (2017) Apr;24: 12-20. [PubMed]

Bird JE, Barzik M, Drummond MC, Sutton DC, Goodman SM, Morozko EL, Cole SM, Boukhvalova AK, Skidmore J, Syam D, Wilson EA, Fitzgerald T, Rehman AU, Martin DM, Boger ET, Belyantseva IA, Friedman TB. Harnessing molecular motors for nanoscale pulldown in live cells. Mol Biol Cell (2017) Feb;28(3): 463-675. [PubMed]

2016

Hale CL, Niederriter, AR, Green GE, Martin DM. Atypical phenotypes associated with CHD7 mutations and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. American Journal of Medical Genetics (2016) Feb;170(2):344-54. [PubMed]

Srivastava, A, Ritesh, KC, Tsan, Y-C, Lio, R, Hannibal, MC, Keegan, CE, Chinnaiyan, AM, Martin, DM, Bielas, SL.  De novo Dominant ASXL3 Mutations Alter H2A Deubiquitination and Transcription in Bainbridge-Ropers Syndrome.  Human Molecular Genetics (2016) Feb 1:25(3)597-608. [PubMed]

Ethan D. Sperry, Jane L. Schuette, Conny M. A. van Ravenswaaij-Arts, Glenn E. Green, and Donna M. Martin. Overlap in Features between Duplication 2p25 and CHARGE Syndrome. American Journal of Medical Genetics (2016) May 170(5) 1148-54.

Danyang He, Corentine Marie, Chuntao Zhao, Bongwoo Kim, Jincheng Wang, Yaqi Deng, Magali Frah, Haibo Wang, Xuelian He, Hatem Hmidan, Adrien Clavairoly, Blaise V. Jones, David Witte, Boris Zalc, Xin Zhou, Daniel I. Choo, Donna M. Martin, Carlos Parras, Q. Richard Lu. Chd7 Cooperates with Sox10 and Regulates the Onset of CNS Myelination and Remyelination.  Nature Neuroscience (2016) May 19 (5) 678-89. [PubMed]

Hale CL, Niederriter AN, Green GE, Martin DM. Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Am J Med Genet A (2016) Dec;170 (12): 3367-3368. [PubMed]

2015

Gage, PJ, Hurd, EA, and Martin, DM. Mouse models for dissection of CHD7 functions in eye development and the basis of ocular defects in CHARGE Syndrome.  Investigative Ophthalmology and Visual Sciences (2015) Dec 1;56(13):7923-30. [PubMed]

Waite, MR and Martin, DM. Axial-level specific regulation of neuronal development: lessons from PITX.  Journal of Neuroscience Research (2015) Feb;93(2):195-8. PMID:25124216. [PubMed]

Pauline Chaste, Lambertus Klei, Stephan J. Sanders, Vanessa Hus, Michael T. Murtha, Jennifer K. Lowe, A. Jeremy Willsey, Daniel Moreno-De-Luca, Timothy W. Yu, Eric Fombonne, Daniel Geschwind, Dorothy E. Grice, David H. Ledbetter, Shrikant M. Mane, Donna M. Martin, Eric M. Morrow, Christopher A. Walsh, James S. Sutcliffe, Christa Lese Martin, Arthur L. Beaudet, Catherine Lord, Matthew W. State, Edwin H. Cook Jr., Bernie Devlin. A genome wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biological Psychiatry (2015) May 1;77(9):775-84.  [PubMed]

Micucci, J, Sperry, ED, Martin, DM. Chromodomain Helicase DNA Binding Proteins in Stem Cells and Human Developmental Diseases.  Stem Cells and Development (2015) Apr 15;24(8):917-26.  [PubMed]

 Kacie Riley, Lisa M. Catalano, John A. Bernat, Stacie D. Adams, Donna M. Martin, Seema R. Lalani, Ankita Patel, Jeffrey W. Innis, and M. Katharine Rudd. Recurrent Deletions and Duplications of Chromosome 2q11.2 and 2q13 are Associated with Variable Outcome.  American Journal of Medical Genetics (2015) Nov;167(11):2644-2673. [PubMed]

Stephan J. Sanders, Xin He, A. Jeremy Willsey, A. Gulhan Ercan-Sencicek, Kaitlin E. Samocha, A. Ercument Cicek, Michael T. Murtha, Vanessa H. Bal, Somer L. Bishop, Shan Dong, Arthur P. Goldberg, Cai Jinlu, John F. Keaney III, Lambertus Klei, Jeffrey D. Mandell, Daniel Moreno de Luca, Christopher S. Poultney, Elise B. Robinson, Louw Smith, Mack Y. Su, Nicole A. Teran, Michael F. Walker, Donna M. Werling, Arthur L. Beaudet, Rita M. Cantor, Eric Fombonne, Daniel H. Geschwind, Dorothy E. Grice, Catherine Lord, Jennifer K. Lowe, Shrikant M. Mane, Donna M. Martin, Eric M. Morrow, Michael E. Talkowski, James S. Sutcliffe, Christopher A. Walsh, Timothy W. Yu, ASC Consortium , David H. Ledbetter, Christa Lese Martin, Edwin H. Cook, Joseph D. Buxbaum , Mark J. Daly, Bernie Devlin, Kathryn Roeder, and Matthew W. State. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci.  Neuron (2015) Nov;87(6):1215-1233. [PubMed]

Niederriter, A. R. and Martin, D. M. Super Enhancers in cancers, complex disease, and developmental disorders.  Genes (2015) 6:1183-1200. [PubMed]

2014

Micucci JA, Layman WS, Hurd EA, Sperry ED, Frank SF, Durham MA, Swiderski DL, Skidmore JM, Scacheri PC, Raphael Y, Martin DM. CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome. Human Molecular Genetics (2014) Jan 15;23(2):434-48. [PubMed]

Andrea H. Seeley, Mark A. Durham, Mark A. Micale, Jeffrey Wesolowski, and Donna M. Martin. Macrocerebellum, Epilepsy, Intellectual Disability and Gut Malrotation in a Child with a 16q24.1-q24.2 Contiguous Gene Deletion. American Journal of Medical Genetics (2014) Aug;164(8):2062-8. [PubMed]

Pauline Chaste, Stephan J. Sanders, Kommu N. Mohan, Lambertus Klei, Youeun Song, Michael T. Murtha, Vanessa Hus, Jennifer K. Lowe, A. Jeremy Willsey, Daniel Moreno-De-Luca, Timothy W. Yu, Eric Fombonne, Daniel Geschwind, Dorothy E. Grice, David H. Ledbetter, Catherine Lord, Shrikant M. Mane, Donna M. Martin, Eric M. Morrow, Christopher A. Walsh, James S. Sutcliffe, Matthew W. State, Christa Lese Martin, Bernie Devlin, Arthur L. Beaudet, Edwin H. Cook Jr., and Soo-Jeong Kim. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Research (2014) Jun;7(3):355-62. [PubMed]

Glenn E. Green, Farhan S. Huq, Sarah B. Emery, Suresh K. Mukherji, Donna M. Martin. CHD7 mutations and CHARGE Syndrome in semicircular canal dysplasia.  Journal of Otology and Neurotology (2014) Sep;35(8):1466-70. [PubMed]

Jeanine L. Van Nostrand, Colleen A. Brady, Heiyoun Jung, Daniel R. Fuentes, Margaret M. Kozak, Thomas M. Johnson, Chieh-Yu Lin, Chien-Jung Lin, Donald L. Swiderski, Hannes Vogel, Jonathan A. Bernstein, Tania Attié-Bitach, Ching-Pin Chang, Joanna Wysocka, Donna M. Martin, and Laura D. Attardi. Inappropriate p53 Activation During Development Induces Features of CHARGE Syndrome. Nature (2014) Oct 9;514(7521):228-32.  [PubMed]

Sperry, ED, Hurd, EA, Durham, MA, Reamer EN, Stein, AB, Martin, DM. The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development. Developmental Dynamics (2014) Sep;243(9):1055-66. [PubMed]

2013

Waite, MR, Skidmore, JS, Micucci, JA, Shiratori, H, Hamada, H, Martin, JF, Martin, DM. Pleiotropic and isoform-specific functions for Pitx2 in superior colliculus and hypothalamic neuronal development. Molecular and Cellular Neurosciences (2013) Jan;52:128-39. [PubMed]

2012

EA Hurd, JA Micucci, EN Reamer; DM Martin. Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice Mechanisms of Development. 2012 Jun 15. [Epub ahead of print].  [PubMed]

J.K. Bedoyan, V.M. Schaibley, W. Peng, Y. Bai, K. Mondal, A.C. Shetty, M. Durham, J.A. Micucci, A. Dhiraaj, J.M. Skidmore, J.B. Kaplan, C. Skinner, R.E. Stevenson, C.E. Schwartz, A. Antonellis, M.E. Zwick, J.D. Cavalcoli, J.Z. Li, and D.M. Martin. RAB40AL is mutated in Martin-Probst Syndrome, a rare X-linked multisystem neurodevelopmental disorder. Journal of Medical Genetics49:332-340 (2012).  [PubMed]

MR Waite*, KA Skaggs*, P Kaviany, JM Skidmore, F Causeret, JF Martin, DM Martin. Distinct populations of GABAergic neurons in mouse rhombomere 1 express but do not require the homeodomain transcription factor PITX2. Molecular and Cellular Neurosciences (2012) Jan;49(1):32-43. Epub 2011 Sep 10. *co-first authors. [PubMed]

Skidmore, JS, Waite, MR, Alvarez-Bolado, G, Puelles, L, Martin, DM. A novel TaulacZ allele reveals a requirement for Pitx2 in formation of the mammillothalamic tract. Genesis (2012) Jan;50(1):67-73. [PubMed]

2011

EA Hurd, ME Adams, D Swiderski, WS Layman, L Beyer, D Dolan, Y Raphael, and DM Martin. Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome. Hearing Research (2011) Dec;282(1-2):184-95. [PubMed]

Layman WS, Hurd EA, Martin, DM. Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.  Human Molecular Genetics. 2011 May 24. [PubMed]

Waite, MR, Skidmore, JS, Billi, AC, Martin, JF, Martin, DM. GABAergic and glutamatergic identities of developing midbrain Pitx2 neurons. Developmental Dynamics (2011) Feb;240(2):333-46. [PubMed]

2010

Layman, WS, Hurd, EA, Martin, DM. Chromodomain Proteins in Development: Lessons from CHARGE Syndrome. Clinical Genetics,Jul;78(1):11-20 (2010). [PubMed]

Martin, DM. Chromatin remodeling in development and disease: focus on CHD7.  PLoS GeneticsJul 15;6(7):e1001010 (2010). [PubMed]

Hurd, EA, Poucher, HK, Cheng, K, Raphael, Y, Martin, DM. The ATP-dependent chromatin remodeling enzyme CHD7 regulates proneural gene expression and neurogenesis in the inner ear. Development 137(18):3139-3150 (2010).