Donna Martin, M.D., Ph.D.

Donna Martin, M.D., Ph.D.

Chair, Department of Pediatrics
Ravitz Foundation Endowed Professor of Pediatrics and Communicable Diseases
Professor of Human Genetics

8220C MSRB III
1150 W. Medical Center Dr, SPC 5652
Ann Arbor, MI 48109-5652

(734) 647-4859

Areas of Interest

Our laboratory research focuses on the genetic basis of neural development and disorders of human development. Specifically, we study genes predicted to influence neuronal stem cell proliferation, differentiation, and migration.  We are interested in the epigenetic roles of an ATP dependent chromodomain  remodeling gene, CHD7, in the developing inner ear, olfactory system, and central nervous system.  CHD7 pathogenic variants in humans cause CHARGE syndrome,  a congenital anomaly condition that affects the brain, eyes, ears, heart, and craniofacial structures.  We use genetic approaches in mice to study how loss of CHD7 disrupts neuronal and organ development.  We ask how changes gene expression with loss or gain of CHD7 and related chromatin remodelers leads to phenotypic variability and how we can modify CHD7 expression or function in cells and tissues. We also participate in collaborative studies to better understand the genetic mechanisms of autism and other developmental disorders of the nervous system. Our studies impact our understanding of how the nervous system and related organs develop, and how we can design therapies to improve outcomes for people affected by these developmental disorders.

Honors & Awards

  • 2003 Janette Ferrantino Award, Department of Pediatrics, The University of Michigan 
  • 2004 Top 10% Teachers Award, Department of Pediatrics, The University of Michigan
  • 2005 Ad hoc member, Developmental Brain Disorders study section (DBD), National Institutes of Health
  • 2007 Ad hoc member, Neurogenesis and Cell Fate Study Section (NCF), National Institutes of Health
  • 2007 The University of Michigan Hartwell Foundation nominee
  • 2007 The University of Michigan John Merck Scholar nominee
  • 2007, 2012 Best Doctors in America (Detroit Hour Magazine)
  • 2009-2015 Permanent Member, Developmental Brain Disorders (DBD) Study Section, National Institutes of Health
  • 2010 Top Resident Teacher Award, Department of Pediatrics, University of Michigan
  • 2011 Elected Member, The American Society for Clinical Investigation (ASCI)
  • 2014 University of Michigan Medical School League of Research Excellence
  • 2015 Special Recognition Award, International CHARGE Syndrome Foundation
  • 2015-2017 Rudi Ansbacher Women in Academic Medicine Leadership Scholar
  • 2017 “Star in CHARGE” Award, International CHARGE Syndrome Foundation
  • 2018-2021 Scholar, Taubman Institute, Michigan Medicine
  • 2019-2020 Participant, Executive Leadership in Academic Medicine (ELAM)

 

Credentials

  • 8/83-5/87 Michigan Technological University, Houghton, Michigan, B.S. Mathematics/Foreign Language Certificate in German
  • 6/87-6/88 Visiting Student, Universitat Stuttgart, Deutscher Akademischer Austaushdienst
  • 8/88-12/92 The University of Michigan, Ann Arbor, Michigan, Ph.D., Neuroscience
  • 8/92-6/96 The University of Michigan Medical School, Ann Arbor, Michigan, M.D.
  • 8/96-7/97 Intern in Pediatrics, Mott Children's Hospital, The University of Michigan, Ann Arbor, Michigan
  • 8/97-6/99 Resident in Pediatrics, Mott Children's Hospital, The University of Michigan, Ann Arbor, Michigan
  • 7/99-6/01 Medical Genetics Residency, The University of Michigan, Ann Arbor, Michigan

Published Articles or Reviews

2022

Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines.
Berger SM, Appelbaum PS, Siegel K, Wynn J, Saami AM, Brokamp E, O'Connor BC, Hamid R, Martin DM, Chung WK. Genet Med. 2022 Jun 29:S1098-3600(22)00804-8. doi: 10.1016/j.gim.2022.06.002. Online ahead of print. PMID: 35767006
 
Corrigendum to "Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice" [Mech. Dev. 129 (9-12) (2012) 308-23 (PMID 22705977)].
Hurd EA, Micucci JA, Reamer EN, Martin DM. Cells Dev. 2022 Jun;170:203779. doi: 10.1016/j.cdev.2022.203779. Epub 2022 Apr 19. PMID: 35453010
 
Gender Differences in Endowed Chairs in Pediatrics.
Singer K, Burns CJ, Griffith KA, Opipari VC, Martin DM, Shellhaas RA, Jagsi R. J Pediatr. 2022 May 27:S0022-3476(22)00492-9. doi: 10.1016/j.jpeds.2022.05.040. Online ahead of print. PMID: 35636563
 
Epigenetic mechanisms of inner ear development.
Balendran V, Ritter KE, Martin DM. Hear Res. 2022 Jan 13:108440. doi: 10.1016/j.heares.2022.108440. Online ahead of print. PMID: 35063312 Review.

2021

GJB2 gene therapy and conditional deletion reveal developmental stage-dependent effects on inner ear structure and function.
Guo J, Ma X, Skidmore JM, Cimerman J, Prieskorn DM, Beyer LA, Swiderski DL, Dolan DF, Martin DM, Raphael Y. Mol Ther Methods Clin Dev. 2021 Oct 1;23:319-333. doi: 10.1016/j.omtm.2021.09.009. eCollection 2021 Dec 10. PMID: 34729379.
 
Meis2 Is Required for Inner Ear Formation and Proper Morphogenesis of the Cochlea.
Durán Alonso MB, Vendrell V, López-Hernández I, Alonso MT, Martin DM, Giráldez F, Carramolino L, Giovinazzo G, Vázquez E, Torres M, Schimmang T. Front Cell Dev Biol. 2021 May 28;9:679325. PMID: 34124068.
 
Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study.
Zhai Y, Zhang Z, Shi P, Martin DM, Kong X. Hum Mutat. 2021 May 20. PMID: 3401516.
 
Chromatin remodeler CHD7 is critical for cochlear morphogenesis and neurosensory patterning.
Balendran V, Skidmore JM, Ritter KE, Gao J, Cimerman J, Beyer LA, Hurd EA, Raphael Y, Martin DM. Dev Biol. 2021 May 15;477:11-21. PMID: 34004180.
 
Association of Salary Differences Between Medical Specialties With Sex Distribution.
Bravender T, Selkie E, Sturza J, Martin DM, Griffith KA, Kaciroti N, Jagsi R. JAMA Pediatr. 2021 May 1;175(5):524-525. PMID: 33555312.
 
Development and implementation of an electronic medical record module to track genetic testing results.
Scott A, Martin DM. Genet Med. 2021 May;23(5):972-975. PMID: 33500566.
 

2020

CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression.
Yao H, Hannum DF, Zhai Y, Hill SF, Albanus RD', Lou W, Skidmore JM, Sanchez G, Saiakhova A, Bielas SL, Scacheri P, Ljungman M, Parker SCJ, Martin DM. Sci Rep. 2020 Oct 15;10(1):17445. PMID: 33060836.
 
Erratum to "The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder" [Dev. Cognit. Neurosci. 24 April (2017) 12-20].
Velasquez F, Wiggins JL, Mattson WI, Martin DM, Lord C, Monk CS. Dev Cogn Neurosci. 2020 Oct;45:100844. PMID: 32868239.
 
Changing the editorial process at JCI and JCI Insight in response to the COVID-19 pandemic.
Ahima RS, Jackson S, Casadevall A, Semenza GL, Tomaselli G, Collins KL, Lieberman AP, Martin DM, Reddy P. J Clin Invest. 2020 May 1;130(5):2147. PMID: 32202513.
 
Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.
Meisner JK, Martin DM. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):81-89. PMID: 31833191.
 
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, Bielas S, Harris NL, Ogle JD, Innis JW, Martin DM. Pediatr Res. 2020 Mar;87(4):735-739. PMID: 31618753.
 
CHD7 Disorder.
van Ravenswaaij-Arts CM, Hefner M, Blake K, Martin DM. 2006 Oct 2 [updated 2020 Sep 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301296.
 

2019

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM. Am J Hum Genet. 2019 Aug 1;105(2):283-301. PMID: 31353023.
 
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Hum Mutat. 2019 Aug;40(8):1013-1029. PMID: 31021519.
 
Neural crest contributions to the ear: Implications for congenital hearing disorders.
Ritter KE, Martin DM. Hear Res. 2019 May;376:22-32. PMID: 30455064.
 

2018

Single Cell Transcriptomics Reveal Abnormalities in Neurosensory Patterning of the Chd7 Mutant Mouse Ear.
Durruthy-Durruthy R, Sperry ED, Bowen ME, Attardi LD, Heller S, Martin DM. Front Genet. 2018 Oct 23;9:473. PMID: 30459807.
 
Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8.
Marie C, Clavairoly A, Frah M, Hmidan H, Yan J, Zhao C, Van Steenwinckel J, Daveau R, Zalc B, Hassan B, Thomas JL, Gressens P, Ravassard P, Moszer I, Martin DM, Lu QR, Parras C. Proc Natl Acad Sci U S A. 2018 Aug 28;115(35):E8246-E8255. PMID: 30108144.
 
Balancing dual demands on the physician-scientist workforce.
Martin DM, Rathmell WK, Tavazoie SF. J Clin Invest. 2018 Aug 1;128(8):3204-3205. PMID: 30010627.
 
Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair.
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 DM, Wu LN, Xin M, Zhou W, Parras C, Lu QR. Dev Cell. 2018 Jun 18;45(6):753-768.e8. PMID: 29920279.
 
CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development.
Yao H, Hill SF, Skidmore JM, Sperry ED, Swiderski DL, Sanchez GJ, Bartels CF, Raphael Y, Scacheri PC, Iwase S, Martin DM. JCI Insight. 2018 Feb 22;3(4):e97440. PMID: 29467333.
 
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network, Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Hum Mutat. 2018 May;39(5):666-675. PMID: 29330883.
 
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.
Bélanger C, Bérubé-Simard FA, Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N. Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E620-E629. PMID: 29311329.
 
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.
Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genet Med. 2018 Sep;20(9):1022-1029. PMID: 29300383.
 
Chromatin in nervous system development and disease.
Iwase S, Martin DM. Mol Cell Neurosci. 2018 Mar;87:1-3. PMID: 29248671.
 
Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers.
Moccia A, Martin DM. Mol Cell Neurosci. 2018 Mar;87:46-54. PMID: 29196188.
 
Atopic disorders in CHARGE syndrome: A retrospective study and literature review.
Kong F, Martin DM. Eur J Med Genet. 2018 Apr;61(4):225-229. PMID: 29191495.
 

2017

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.
van Ravenswaaij-Arts C, Martin DM. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):397-406.. PMID: 29171162.
 
Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.
Choo DI, Tawfik KO, Martin DM, Raphael Y. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):439-449. PMID: 29082607.
 
Genetic specification of left-right asymmetry in the diaphragm muscles and their motor innervation.
Charoy C, Dinvaut S, Chaix Y, Morlé L, Sanyas I, Bozon M, Kindbeiter K, Durand B, Skidmore JM, De Groef L, Seki M, Moons L, Ruhrberg C, Martin JF, Martin DM, Falk J, Castellani V. Elife. 2017 Jun 22;6:e18481. PMID: 28639940.
 
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium. Mol Autism. 2017 May 22;8:21. PMID: 28540026.
 
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, Samocha KE, Goldstein JI, Okbay A, Bybjerg-Grauholm J, Werge T, Hougaard DM, Taylor J; iPSYCH-Broad Autism Group; Psychiatric Genomics Consortium Autism Group, Skuse D, Devlin B, Anney R, Sanders SJ, Bishop S, Mortensen PB, Børglum AD, Smith GD, Daly MJ, Robinson EB. Nat Genet. 2017 Jul;49(7):978-985.. PMID: 28504703.
 
Support for the Diagnosis of CHARGE Syndrome.
van Ravenswaaij-Arts CMA, Blake K, Martin DM. JAMA Otolaryngol Head Neck Surg. 2017 Jun 1;143(6):634-635. PMID: 28241200.
 
It's All in the Delivery: Improving AAV Transfection Efficiency with Exosomes.
Martin DM, Raphael Y. Mol Ther. 2017 Feb 1;25(2):309-311. PMID: 28126363.
 
The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder.
Velasquez F, Wiggins JL, Mattson WI, Martin DM, Lord C, Monk CS. Dev Cogn Neurosci. 2017 Apr;24:12-20. PMID: 28088648.
 
Harnessing molecular motors for nanoscale pulldown in live cells.
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. Mol Biol Cell. 2017 Feb 1;28(3):463-475. PMID: 27932498.
 

2016

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR. Am J Hum Genet. 2016 Oct 6;99(4):831-845. PMID: 27640307.
 
Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
Hale CL, Niederriter AN, Green GE, Martin DM. Am J Med Genet A. 2016 Dec;170(12):3367-3368. PMID: 26996150.
 
Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination.
He D, Marie C, Zhao C, Kim B, Wang J, Deng Y, Clavairoly A, Frah M, Wang H, He X, Hmidan H, Jones BV, Witte D, Zalc B, Zhou X, Choo DI, Martin DM, Parras C, Lu QR. Nat Neurosci. 2016 May;19(5):678-689. PMID: 26928066.
 
Duplication 2p25 in a child with clinical features of CHARGE syndrome.
Sperry ED, Schuette JL, van Ravenswaaij-Arts CM, Green GE, Martin DM. Am J Med Genet A. 2016 May;170A(5):1148-54. PMID: 26850571.
 
12th International CHARGE syndrome conference proceedings.
Martin DM, Salem-Hartshorne N, Hartshorne TS, Scacheri PC, Hefner MA. Am J Med Genet A. 2016 Apr;170A(4):856-69. PMID: 26754144.
 
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL. Hum Mol Genet. 2016 Feb 1;25(3):597-608. PMID: 26647312.
 
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL.
Hum Mol Genet. 2016 Feb 1;25(3):597-608. PMID: 26647312.
 
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
Hale CL, Niederriter AN, Green GE, Martin DM. Am J Med Genet A. 2016 Feb;170A(2):344-354. PMID: 26590800.
 

2015

Super Enhancers in Cancers, Complex Disease, and Developmental Disorders.
Niederriter AR, Varshney A, Parker SC, Martin DM. Genes (Basel). 2015 Nov 9;6(4):1183-200. PMID: 26569311.
 
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW; Autism Sequencing Consortium, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. Neuron. 2015 Sep 23;87(6):1215-1233. PMID: 26402605.
 
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
Riley KN, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, Patel A, Burnside RD, Innis JW, Rudd MK. Am J Med Genet A. 2015 Nov;167A(11):2664-73. PMID: 26227573.
 
Epigenetic Developmental Disorders: CHARGE syndrome, a case study.
Martin DM. Curr Genet Med Rep. 2015 Mar;3(1):1-7. PMID: 25685640.
 
Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases.
Micucci JA, Sperry ED, Martin DM. Stem Cells Dev. 2015 Apr 15;24(8):917-26. PMID: 25567374.
 
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH Jr, Devlin B. Biol Psychiatry. 2015 May 1;77(9):775-84. PMID: 25534755.
 
Axial level-specific regulation of neuronal development: lessons from PITX2.
Waite MR, Martin DM. J Neurosci Res. 2015 Feb;93(2):195-8. PMID: 25124216.
 

2014

Inappropriate p53 activation during development induces features of CHARGE syndrome.
Van Nostrand JL, Brady CA, Jung H, Fuentes DR, Kozak MM, Johnson TM, Lin CY, Lin CJ, Swiderski DL, Vogel H, Bernstein JA, Attié-Bitach T, Chang CP, Wysocka J, Martin DM, Attardi LD. Nature. 2014 Oct 9;514(7521):228-32. PMID: 25119037.
 
CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM. Otol Neurotol. 2014 Sep;35(8):1466-70. PMID: 24979395.
 
The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development.
Sperry ED, Hurd EA, Durham MA, Reamer EN, Stein AB, Martin DM. Dev Dyn. 2014 Sep;243(9):1055-66. PMID: 24975120.
 
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cook EH Jr, Kim SJ. Autism Res. 2014 Jun;7(3):355-62. PMID: 24821083.
 
Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.
Seeley AH, Durham MA, Micale MA, Wesolowski J, Foerster BR, Martin DM.
Am J Med Genet A. 2014 Aug;164A(8):2062-8. PMID: 24719385.
 
CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome.
Micucci JA, Layman WS, Hurd EA, Sperry ED, Frank SF, Durham MA, Swiderski DL, Skidmore JM, Scacheri PC, Raphael Y, Martin DM. Hum Mol Genet. 2014 Jan 15;23(2):434-48. PMID: 24026680.
 
Serotonin transporter genotype impacts amygdala habituation in youth with autism spectrum disorders.
Wiggins JL, Swartz JR, Martin DM, Lord C, Monk CS. Soc Cogn Affect Neurosci. 2014 Jun;9(6):832-8. PMID: 23526151.
 
Age-related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence.
Wiggins JL, Bedoyan JK, Carrasco M, Swartz JR, Martin DM, Monk CS. Hum Brain Mapp. 2014 Feb;35(2):646-58. PMID: 23124623.
 

2013

C-terminals in the mouse branchiomotor nuclei originate from the magnocellular reticular formation.
Matsui T, Hongo Y, Haizuka Y, Kaida K, Matsumura G, Martin DM, Kobayashi Y. Neurosci Lett. 2013 Aug 26;548:137-42. PMID: 23756176.
 
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.
Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Devlin B, Cook EH Jr, Kim SJ. Biol Psychiatry. 2013 Oct 15;74(8):576-84. PMID: 23746936.
 
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.
Quinonez SC, Leber SM, Martin DM, Thoene JG, Bedoyan JK. Pediatr Neurol. 2013 Jan;48(1):67-72. PMID: 23290025.
 
Pleiotropic and isoform-specific functions for Pitx2 in superior colliculus and hypothalamic neuronal development.
Waite MR, Skidmore JM, Micucci JA, Shiratori H, Hamada H, Martin JF, Martin DM. Mol Cell Neurosci. 2013 Jan;52:128-39. PMID: 23147109.
 

2012

Common genetic variants, acting additively, are a major source of risk for autism.
Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook EH Jr, Roeder K, Devlin B. Mol Autism. 2012 Oct 15;3(1):9. PMID: 23067556.
 
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE. N Engl J Med. 2012 Oct 4;367(14):1321-31. PMID: 22970919.
 
Have you heard? Viral-mediated gene therapy restores hearing.
Martin DM, Raphael Y. Neuron. 2012 Jul 26;75(2):188-90. PMID: 22841304.
 
Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice.
Hurd EA, Micucci JA, Reamer EN, Martin DM. Mech Dev. 2012 Sep-Dec;129(9-12):308-23. PMID: 22705977.
 
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.
Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM. J Med Genet. 2012 May;49(5):332-40. PMID: 22581972.
 
The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders.
Wiggins JL, Peltier SJ, Bedoyan JK, Carrasco M, Welsh RC, Martin DM, Lord C, Monk CS. Neuroimage Clin. 2012 Nov 7;2:17-24. PMID: 24179754.
 
A multisite study of the clinical diagnosis of different autism spectrum disorders.
Lord C, Petkova E, Hus V, Gan W, Lu F, Martin DM, Ousley O, Guy L, Bernier R, Gerdts J, Algermissen M, Whitaker A, Sutcliffe JS, Warren Z, Klin A, Saulnier C, Hanson E, Hundley R, Piggot J, Fombonne E, Steiman M, Miles J, Kanne SM, Goin-Kochel RP, Peters SU, Cook EH, Guter S, Tjernagel J, Green-Snyder LA, Bishop S, Esler A, Gotham K, Luyster R, Miller F, Olson J, Richler J, Risi S. Arch Gen Psychiatry. 2012 Mar;69(3):306-13. PMID: 22065253.
 
The impact of serotonin transporter (5-HTTLPR) genotype on the development of resting-state functional connectivity in children and adolescents: a preliminary report.
Wiggins JL, Bedoyan JK, Peltier SJ, Ashinoff S, Carrasco M, Weng SJ, Welsh RC, Martin DM, Monk CS. Neuroimage. 2012 Feb 1;59(3):2760-70. PMID: 22032950.
 
Distinct populations of GABAergic neurons in mouse rhombomere 1 express but do not require the homeodomain transcription factor PITX2.
Waite MR, Skaggs K, Kaviany P, Skidmore JM, Causeret F, Martin JF, Martin DM. Mol Cell Neurosci. 2012 Jan;49(1):32-43. PMID: 21925604.
 
A novel TaulacZ allele reveals a requirement for Pitx2 in formation of the mammillothalamic tract.
Skidmore JM, Waite MR, Alvarez-Bolado G, Puelles L, Martin DM. Genesis. 2012 Jan;50(1):67-73. PMID: 21898763.
 

2011

Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.
Hurd EA, Adams ME, Layman WS, Swiderski DL, Beyer LA, Halsey KE, Benson JM, Gong TW, Dolan DF, Raphael Y, Martin DM.
Hear Res. 2011 Dec;282(1-2):184-95. PMID: 21875659.
 
Regulation of spinal interneuron development by the Olig-related protein Bhlhb5 and Notch signaling.
Skaggs K, Martin DM, Novitch BG. Development. 2011 Aug;138(15):3199-211. PMID: 21750031.
 
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW. Neuron. 2011 Jun 9;70(5):863-85. PMID: 21658581.
 
Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.
Layman WS, Hurd EA, Martin DM. Hum Mol Genet. 2011 Aug 15;20(16):3138-50. PMID: 21596839.
 
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. Hum Genet. 2011 Oct;130(4):495-504. PMID: 21340693.
 

2010

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.
Hurd EA, Poucher HK, Cheng K, Raphael Y, Martin DM. Development. 2010 Sep;137(18):3139-50. PMID: 20736290.
 
Chromatin remodeling in development and disease: focus on CHD7.
Martin DM. PLoS Genet. 2010 Jul 15;6(7):e1001010. PMID: 20657659.
 
CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis.
Zentner GE, Hurd EA, Schnetz MP, Handoko L, Wang C, Wang Z, Wei C, Tesar PJ, Hatzoglou M, Martin DM, Scacheri PC. Hum Mol Genet. 2010 Sep 15;19(18):3491-501. PMID: 20591827.
 
Duplication 16p11.2 in a child with infantile seizure disorder.
Bedoyan JK, Kumar RA, Sudi J, Silverstein F, Ackley T, Iyer RK, Christian SL, Martin DM. Am J Med Genet A. 2010 Jun;152A(6):1567-74. PMID: 20503337.

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
Zentner GE, Layman WS, Martin DM, Scacheri PC. Am J Med Genet A. 2010 Mar;152A(3):674-86. PMID: 20186815.
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
Rosenfeld JA, Ballif BC, Martin DM, Aylsworth AS, Bejjani BA, Torchia BS, Shaffer LG. Hum Genet. 2010 Apr;127(4):421-40. PMID: 20066439.
 

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