CENTER ON HUMAN DEVELOPMENT AND DISABILITY · CENTER ON HUMAN DEVELOPMENT AND DISABILITY EUNICE KENNEDY SHRIVER INTELLECTUAL AND DEVELOPMENTAL DISABILITIES RESEARCH CENTER SELECTED

CENTER ON HUMAN DEVELOPMENT AND DISABILITY

EUNICE KENNEDY SHRIVER INTELLECTUAL AND DEVELOPMENTAL DISABILITIES RESEARCH CENTER

SELECTED PUBLICATIONS BY CHDD RESEARCH AFFILIATES

Contributions to Intellectual and Developmental Disabilities

January – December 2016

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Adams Waldorf, Kristina Adams Waldorf, K. M., Stencel-Baerenwald, J. E., Kapur, R. P., Studholme, C., Boldenow, E., Vornhagen, J., . .

.,Richards, T., Garden, G.A., Juul, S.E., Shaw, D.W., Hevner, R.F., Dobyns, W.B., Rajagopal, L. (2016). Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate. Nature Medicine, 22, 1256-1259. doi: 10.1038/nm.4193.

Boldenow, E., Gendrin, C., Ngo, L., Bierle, C., Vornhagen, J., Coleman, M., . . . Adams Waldorf, K. M. (2016). Group B Streptococcus circumvents neutrophils and neutrophil extracellular traps during amniotic cavity invasion and preterm labor. Scientific Immunology, 1, eaah4576.

Hughes, S. M., Shu, Z., Levy, C. N., Ferre, A. L., Hartig, H., Fang, C., . . ., Adams Waldorf, K. M., Hladik, F. (2016). Cryopreservation of Human Mucosal Leukocytes. PLoS One, 11, e0156293. doi: 10.1371/journal.pone.0156293.

Vornhagen, J., Quach, P., Boldenow, E., Merillat, S., Whidbey, C., Ngo, L. Y., . . , Adams Waldorf, K. M., Rajagopal, L. (2016). Bacterial Hyaluronidase Promotes Ascending GBS Infection and Preterm Birth. mBio, 7. doi: 10.1128/mBio.00781-16.

Aylward, Elizabeth Faja, S., Dawson, G., Aylward, E., Wijsman, E. M., & Webb, S. J. (2016). Early event-related potentials to emotional

faces differ for adults with autism spectrum disorder and by serotonin transporter genotype. Clinical Neurophysiology, 127, 2436-2447. doi: 10.1016/j.clinph.2016.02.022.

Bernier, Raphael A. Bramswig, N. C., Ludecke, H. J., Pettersson, M., Albrecht, B., Bernier, R. A., Cremer, K., . . ., Eichler, E.E., Wieczorek, D.

(2016). Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Human Genetics, 136, 179-192. doi: 10.1007/s00439-016-1743-x.

Duyzend, M. H., Nuttle, X., Coe, B. P., Baker, C., Nickerson, D. A., Bernier, R., & Eichler, E. E. (2016). Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. American Journal of Human Genetics, 98, 45-57. doi: 10.1016 j.ajhg.2015.11.017.

Faja, S., Dawson, G., Sullivan, K., Meltzoff, A. N., Estes, A., & Bernier, R. (2016). Executive function predicts the development of play skills for verbal preschoolers with autism spectrum disorders. Autism Research. doi: 10.1002 aur.1608.

Green Snyder, L., D'Angelo, D., Chen, Q., Bernier, R., Goin-Kochel, R. P., Wallace, A. S., . . . Simons, V. I. P. c. (2016). Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. Journal of Autism and Developmental Disorders, 46, 2734-2748. doi: 10.1007/s10803-016-2807-4.

Hippolyte, L., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Martin-Brevet, S., Ferrari, C., . . ., Bernier, R., Jacquemont, S. (2016). The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition. Biological Psychiatry, 80, 129-139. doi: 10.1016/j.biopsych.2015.10.021.

Lugtenberg, D., Reijnders, M. R., Fenckova, M., Bijlsma, E. K., Bernier, R., van Bon, B. W., . . ., Eichler, E.E., Mefford, H.C., Vissers, L. E. (2016). De novo loss-of-function mutations in WAC cause a recognizable intellectualdisability syndrome and learning deficits in Drosophila. European Journal of Human Genetics, 24, 1145-1153. doi: 10.1038/ejhg.2015.282.

Stessman, H. A., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., . . ., Bernier, R.A., Eichler, E.E., Kleefstra, T. (2016). Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American Journal of Human Genetics, 98, 541-552. doi: 10.1016/j.ajhg.2016.02.004.

Turner, T. N., Yi, Q., Krumm, N., Huddleston, J., Hoekzema, K., HA, F. S., . . ., Bernier, R.A., Eichler, E. E. (2016). denovo-db: a compendium of human de novo variants. Nucleic Acids Research. doi: 10.1093/nar/gkw865.

Webb, S. J., Garrison, M. M., Bernier, R., McClintic, A. M., King, B. H., & Mourad, P. D. (2016). Severity of asd symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound. Autism Research. doi: http://dx.doi.org/10.1002/aur.1690.

Berninger, Virginia W. Nielsen, K., Abbott, R., Griffin, W., Lott, J., Raskind, W., & Berninger, V. W. (2016). Evidence-Based Reading and

Writing Assessment for Dyslexia in Adolescents and Young Adults. Learning Disabilities (Pittsburgh), 21, 38-56. doi: 10.18666 LDMJ-2016-V21-I1-6971.

http://dx.doi.org/10.1002/aur.1690

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Bjornson, Kristie Bjornson, K., Zhou, C., Fatone, S., Orendurff, M., Stevenson, R., & Rashid, S. (2016). The Effect of Ankle-Foot

Orthoses on Community-Based Walking in Cerebral Palsy: A Clinical Pilot Study. Pediatric Physical Therapy, 28, 179-186. doi: 10.1097/PEP.0000000000000242.

Dodds, C. B., Bjornson, K. F., Sweeney, J. K., & Narayanan, U. G. (2016). The effect of supported physical activity on parental-reported sleep qualities and pain severity in children with medical complexity. Journal of Pediatric Rehabilitation Medicine, 9, 195-206. doi: 10.3233/PRM-160388.

Moreau, N. G., Bodkin, A. W., Bjornson, K., Hobbs, A., Soileau, M., & Lahasky, K. (2016). Effectiveness of Rehabilitation Interventions to Improve Gait Speed in Children With Cerebral Palsy: Systematic Review and Meta-analysis. Physical Therapy, 96, 1938-1954. doi: 10.2522/ptj.20150401.

Russell, J. C., & Bjornson, K. (2016). Participation in Daily Life: Influence on Quality of Life in Ambulatory Children with Cerebral Palsy. PM&R, 8, S151. doi: 10.1016/j.pmrj.2016.07.019.

Booth-LaForce, Cathryn Haltigan, J. D., Roisman, G. I., Cauffman, E., & Booth-LaForce, C. (2016). Correlates of Childhood vs. Adolescence

Internalizing Symptomatology from Infancy to Young Adulthood. Journal of Youth and Adolescence. doi: 10.1007s10964-016-0578-z.

Roisman, G. I., Fraley, R. C., Haltigan, J. D., Cauffman, E., & Booth-LaForce, C. (2016). Strategic considerations in the search for transactional processes: Methods for detecting and quantifying transactional signals in longitudinal data. Developmental Psychopathology, 28, 791-800. doi: 10.1017/S0954579416000316.

Shepherd-Banigan, M., Bell, J. F., Basu, A., Booth-LaForce, C., & Harris, J. R. (2016). Mothers' Employment Attributes and Use of Preventive Child Health Services. Medical Care Research and Review. doi: 10.1177/1077558716634555.

Bothwell, M. Bothwell, M. (2016). Mechanisms and Medicines for Remyelination. Annual Review of Medicine.

doi: 10.1146 annurev-med-050715-104400. Bothwell, M. (2016). Recent advances in understanding neurotrophin signaling. F1000Research, 5. doi: 10.12688

F1000Researchearch.8434.1. Brown, Sharan E. Hackett, J. D., Hudson, R., West, E. A., & Brown, S. E. (2016). Cambodian inclusive education for vulnerable

populations: Toward an ecological perspective policy. Journal of International Special Needs Education, 19, 3-14. doi: 10.9782/JISNE-D-15-00004.1.

Burbacher, Thomas M. Grant, K. S., Worlein, J. M., Meyer, J. S., Novak, M. A., Kroeker, R., Rosenberg, K., . . . Burbacher, T. M. (2016). A

longitudinal study of hair cortisol concentrations in Macaca nemestrina mothers and infants. American Journal of Primatology. doi: 10.1002/ajp.22591.

Carmichael Olson, Heather Jirikowic, T., Chen, M., Nash, J., Gendler, B., & Carmichael Olsen, H. (2016). Regulatory behaviors and stress

reactivity among infants at high risk for fetal alcohol spectrum disorders: An exploratory study. Journal of Mental Health Research in Intellectual Disabilities, 9, 171-188. doi: 10.1080/19315864.2016.1183246.

Lucas, B. R., Latimer, J., Fitzpatrick, J. P., Doney, R., Watkins, R. E., Tsang, T. W., . . ., Carmichael Olson, H., Elliott, E. J. (2016). Soft neurological signs and prenatal alcohol exposure: a population-based study in remote Australia. Developmental Medicine & Child Neurology, 58, 861-867. doi: 10.1111/dmcn.13071.

Caterall, William A. Levin, M. D., Singh, G. K., Zhang, H. X., Uchida, K., Kozel, B. A., Stein, P. K., . . ., Catterall, W.A., Nichols, C. G.

(2016). KATP channel gain-of-function leads to increased myocardial L-type Ca2+ current and contractility in Cantu syndrome. Proceedings of the National Academy of Sciences of the United States of America, 113, 6773-6778. doi: 10.1073/pnas.1606465113.

Nanou, E., Scheuer, T., & Catterall, W. A. (2016). Calcium sensor regulation of the CaV2.1 Ca2+ channel contributes

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to long-term potentiation and spatial learning. Proceedings of the National Academy of Sciences of the United States of America, 113, 13209-13214. doi: 10.1073 pnas.1616206113.

Nanou, E., Sullivan, J. M., Scheuer, T., & Catterall, W. A. (2016). Calcium sensor regulation of the CaV2.1 Ca2+ channel contributes to short-term synaptic plasticity in hippocampal neurons. Proceedings of the National Academy of Sciences of the United States of America, 113,1062-1067. doi: 10.1073/pnas.1524636113.

Nanou, E., Yan, J., Whitehead, N. P., Kim, M. J., Froehner, S. C., Scheuer, T., & Catterall, W. A. (2016). Altered short-term synaptic plasticity and reduced muscle strength in mice with impaired regulation of presynaptic CaV2.1 Ca2+ channels. Proceedings of the National Academy of Sciences of the United States of America, 113, 1068-1073. doi: 10.1073/pnas.1524650113.

Patriarchi, T., Qian, H., Di Biase, V., Malik, Z. A., Chowdhury, D., Price, J. L., . . ., Catterall, W.A., Hell, J. W. (2016). Phosphorylation of Cav1.2 on S1928 uncouples the L-type Ca2+ channel from the beta2 adrenergic receptor. The EMBO Journal, 35, 1330-1345. doi: 10.15252/embj.201593409.

Chamberlain, Jeffrey S. Muir, L. A., Murry, C. E., & Chamberlain, J. S. (2016). Prosurvival Factors Improve Functional Engraftment of

Myogenically Converted Dermal Cells into Dystrophic Skeletal Muscle. Stem Cells and Development. doi: 10.1089 scd.2016.0136.

Pisconti, A., Banks, G. B., Babaeijandaghi, F., Betta, N. D., Rossi, F. M., Chamberlain, J. S., & Olwin, B. B. (2016). Loss of niche-satellite cell interactions in syndecan-3 null mice alters muscle progenitor cell homeostasis improving muscle regeneration. Skeletal Muscle, 6, 34. doi: 10.1186/s13395-016-0104-8.

Christakis, Dimitri A. Ravinder, S., Donckels, E. A., Ramirez, J. S., Christakis, D. A., Ramirez, J. M., & Ferguson, S. M. (2016). Excessive

Sensory Stimulation during Development Alters Neural Plasticity and Vulnerability to Cocaine in Mice. eNeuro, 3. doi: 10.1523/ENEURO.0199-16.2016.

Costa, Lucio G. Cole, T. B., Coburn, J., Dao, K., Roque, P., Chang, Y. C., Kalia, V., . . . Costa, L. G. (2016). Sex and genetic differences

in the effects of acute diesel exhaust exposure on inflammation and oxidative stress in mouse brain. Toxicology, 374, 1-9. doi: 10.1016/j.tox.2016.11.010.

Furlong, C. E., Marsillach, J., Jarvik, G. P., & Costa, L. G. (2016). Paraoxonases-1, -2 and -3: What are their functions? Chemico-Biological Interactions, 259, 51-62. doi: 10.1016/j.cbi.2016.05.036.

Garrick, J. M., Dao, K., de Laat, R., Elsworth, J., Cole, T. B., Marsillach, J., . . . Furlong, C.E., Costa, L. G. (2016). Developmental expression of paraoxonase 2. Chemico-Biological Interactions, 259, 168-174. doi: 10.1016/j.cbi.2016.04.001.

Marsillach, J., Costa, L. G., & Furlong, C. E. (2016). Paraoxonase-1 and Early-Life Environmental Exposures. Annals of Global Health, 82, 100-110. doi: 10.1016/j.aogh.2016.01.009.

Roque, P. J., Dao, K., & Costa, L. G. (2016). Microglia mediate diesel exhaust particle-induced cerebellar neuronal toxicity through neuroinflammatory mechanisms. Neurotoxicology, 56, 204-214. doi: 10.1016 j.neuro.2016.08.006.

Wallace, R. J., Gropp, J., Dierick, N., Costa, L. G., Martelli, G., Brantom, P. G., . . . Leng, L. (2016). Risks associated with endotoxins in feed additives produced by fermentation. Environmental Health, 15, 5. doi: 10.1186s12940-016-0087-2.

Cox, Timothy Rosin, J. M., Li, W., Cox, L. L., Rolfe, S. M., Latorre, V., Akiyama, J. A., . . ., Turner, E.E., Cox, T. C. (2016). A distal 594

bp ECR specifies Hmx1 expression in pinna and lateral facial morphogenesis and is regulated by the Hox-Pbx-Meis complex. Development, 143, 2582-2592. doi: 10.1242/dev.133736.

Cunningham, Michael Shaffer, J. R., Orlova, E., Lee, M. K., Leslie, E. J., Raffensperger, Z. D., Heike, C. L., Cunningham, M.L.,. . . Weinberg, S. M.

(2016).Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology. PLoS Genetics, 12, e1006149. doi: 10.1371/journal.pgen.1006149.

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Dager, Stephen R. Fotso, K., Dager, S. R., Landow, A., Ackley, E., Myers, O., Dixon, M., . . . Shaw, D., Posse, S. (2016). Diffusion tensor

spectroscopic imaging of the human brain in children and adults. Magnetic Resonance in Medicine. doi: 10.1002/mrm.26518.

Kim, S. H., Lyu, I., Fonov, V. S., Vachet, C., Hazlett, H. C., Smith, R. G., . . ., Dager, S.R., Network, I. (2016). Development of cortical shape in the human brain from 6 to 24months of age via a novel measure of shape complexity. Neuroimage, 135, 163-176. doi: 10.1016/j.neuroimage.2016.04.053.

Kleinhans, N. M., Reiter, M. A., Neuhaus, E., Pauley, G., Martin, N., Dager, S. R., & Estes, A. M. (2016). Subregional differences in intrinsic amygdala hyperconnectivity and hypoconnectivity in autism spectrum disorder. Autism Research, 9, 760-772. doi: http://dx.doi.org/10.1002/aur.1589.

St. John, T., Estes, A. M., Dager, S. R., Kostopoulos, P., Wolff, J. J., Pandey, j., . . . Piven, J. (2016). Emerging executive functioning and motor development in infants at high and low risk for autism spectrum disorder. Frontiers in Psychology, 7. doi: 10.3389/fpsyg.2016.01016.

Dikman, Sureyya Bell, K. R., Fann, J. R., Brockway, J. A., Cole, W. R., Bush, N. E., Dikmen, S., . . . Temkin, N. (2016). Telephone Problem

Solving for Service Members with Mild Traumatic Brain Injury: A Randomized, Clinical Trial. Journal of Neurotrauma. doi: 10.1089/neu.2016.4444.

Bombardier, C. H., Hoekstra, T., Dikmen, S., & Fann, J. R. (2016). Depression Trajectories during the First Year after Traumatic Brain Injury. Journal of Neurotrauma, 33, 2115-2124. doi: 10.1089/neu.2015.4349.

Dikmen, S., Machamer, J., & Temkin, N. (2016). Mild Traumatic Brain Injury: Longitudinal Study of Cognition, Functional Status, and Post-Traumatic Symptoms. Journal of Neurotrauma. doi: 10.1089/neu.2016.4618.

Hart, T., Novack, T. A., Temkin, N., Barber, J., Dikmen, S. S., Diaz-Arrastia, R., . . ., Zafonte, R. (2016). Duration of Posttraumatic Amnesia Predicts Neuropsychological and Global Outcome in Complicated Mild Traumatic Brain Injury. The Journal of Head Trauma Rehabilitation, 31, E1-E9. doi: 10.1097/HTR.0000000000000210.

Lucas, S., Smith, B. M., Temkin, N., Bell, K. R., Dikmen, S., & Hoffman, J. M. (2016). Comorbidity of Headache and Depression After Mild Traumatic Brain Injury. Headache, 56, 323-330. doi: 10.1111/head.12762.

Walker, W. C., Carne, W., Franke, L. M., Nolen, T., Dikmen, S. D., Cifu, D. X., . . . Williams, R. (2016). The Chronic Effects of Neurotrauma Consortium (CENC) multi-centre observational study: Description of study and characteristics of early participants. Brain Injury, 30, 1469-1480. doi: 10.1080/02699052.2016.1219061.

Disteche, Christine Disteche, C. M. (2016). Dosage compensation of the sex chromosomes and autosomes. Seminars in Cell and

Developmental Biology, 56, 9-18. doi: 10.1016/j.semcdb.2016.04.013. Ramani, V., Cusanovich, D. A., Hause, R. J., Ma, W., Qiu, R., Deng, X., . . , Disteche, C.M., Duan, Z. (2016).

Mapping 3D genome architecture through in situ DNase Hi-C. Nature Protocols, 11, 2104-2121. doi: 10.1038/nprot.2016.126.

Wei, G., Deng, X., Agarwal, S., Iwase, S., Disteche, C., & Xu, J. (2016). Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells. Journal of Molecular Neuroscience, 60, 33-45. doi: 10.1007/s12031-016-0770-3.

Dobyns, William B. Adams Waldorf, K. M., Stencel-Baerenwald, J. E., Kapur, R. P., Studholme, C., Boldenow, E., Vornhagen, J., . .


Di Donato, N., Jean, Y. Y., Maga, A. M., Krewson, B. D., Shupp, A. B., Avrutsky, M. I., . . ., Millen, K.J., Dobyns, W.B., Jinks, R. N. (2016). Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. American Journal of Human Genetics, 99, 1117-1129. doi: 10.1016/j.ajhg.2016.09.010.

Di Donato, N., Kuechler, A., Vergano, S., Heinritz, W., Bodurtha, J., Merchant, S. R., . . . Dobyns, W. B. (2016). Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. American Journal of Medical Genetics A, 170, 2644-2651. doi: 10.1002/ajmg.a.37771.


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Di Donato, N., Neuhann, T., Kahlert, A. K., Klink, B., Hackmann, K., Neuhann, I., . . ., Glass, I.A., Dobyns, W.B., Rump, A. (2016). Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53, 419-425. doi: 10.1136/jmedgenet-2015-103511.

Gobius, I., Morcom, L., Suarez, R., Bunt, J., Bukshpun, P., Reardon, W., . . . Dobyns, W.B., Richards, L. J. (2016). Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum. Cell Reports, 17, 735-747. doi: 10.1016/j.celrep.2016.09.033.

Gripp, K. W., Aldinger, K. A., Bennett, J. T., Baker, L., Tusi, J., Powell-Hamilton, N., . . . Dobyns, W. B. (2016). A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. American Journal of Medical Genetics A, 170, 2237-2247. doi: 10.1002/ajmg.a.37781.

Ma, M., Adams, H. R., Seltzer, L. E., Dobyns, W. B., & Paciorkowski, A. R. (2016). Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. Journal of Pediatrics, 178, 233-240 e210. doi: 10.1016/j.jpeds.2016.08.032.

Mirzaa, G., Timms, A. E., Conti, V., Boyle, E. A., Girisha, K. M., Martin, B., . . ., Glass, I.A., Dobyns, W. B. (2016). PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight, 1. doi: 10.1172/jci.insight.87623.

Mirzaa, G. M., Campbell, C. D., Solovieff, N., Goold, C. P., Jansen, L. A., Menon, S., . . . Dobyns, W. B. (2016). Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurology, 73, 836-845. doi: 10.1001/jamaneurol.2016.0363.

Moore, C. A., Staples, J. E., Dobyns, W. B., Pessoa, A., Ventura, C. V., Fonseca, E. B., . . . Rasmussen, S. A. (2016). Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians. JAMA Pediatrics. doi: 10.1001/jamapediatrics.2016.3982.

Parrini, E., Conti, V., Dobyns, W. B., & Guerrini, R. (2016). Genetic Basis of Brain Malformations. Molecular Syndromology, 7, 220-233. doi: 10.1159/000448639.

Tully, H. M., Wenger, T. L., Kukull, W. A., Doherty, D., & Dobyns, W. B. (2016). Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage. Neurosurgical Focus, 41, E5. doi: 10.3171/2016.8.FOCUS16241.

Yang, J., Bassuk, A. G., Merl-Pham, J., Hsu, C. W., Colgan, D. F., Li, X., . . ., Dobyns, W.B., Tsang, S. H. (2016). Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors. Human Molecular Genetics. doi: 10.1093/hmg/ddw253.

Doherty, Daniel Aldinger, K. A., & Doherty, D. (2016). The genetics of cerebellar malformations. Seminars in Fetal &

Neonatal Medicine, 21, 321-332. doi: 10.1016/j.siny.2016.04.008. Chapman, T., Perez, F. A., Ishak, G. E., & Doherty, D. (2016). Prenatal diagnosis of Chudley-McCullough syndrome.

American Journal of Medical Genetics A, 170, 2426-2430. doi: 10.1002/ajmg.a.37806. Chong, J. X., Caputo, V., Phelps, I. G., Stella, L., Worgan, L., Dempsey, J. C., . . . Doherty, D. (2016). Recessive Inactivating

Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. American Journal of Human Genetics, 98, 772-781. doi: 10.1016/j.ajhg.2016.01.016.

Slaats, G., Isabella, C., Kroes, H., Dempsey, J., Gremmels, H., Monroe, G., . . . Doherty, D. (2016). MKS1 regulates ciliary INPP5E levels in Joubert syndrome. Journal of Medical Genetics, 53, 62-72. doi: http://dx.doi.org/10.1136 jmedgenet-2015-103250.


Eichler, Evan E. Ba, W., Yan, Y., Reijnders, M. R., Schuurs-Hoeijmakers, J. H., Feenstra, I., Bongers, E. M., . . ., Mefford, H.C., Eichler,

E.E., De Vries, B. B. (2016). TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. Human Molecular Genetics, 25, 892-902. doi: 10.1093/hmg/ddv618.

Bramswig, N. C., Ludecke, H. J., Pettersson, M., Albrecht, B., Bernier, R. A., Cremer, K., . . ., Eichler, E.E., Wieczorek, D.

http://dx.doi.org/10.1136

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(2016). Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Human Genetics, 136, 179-192. doi: 10.1007/s00439-016-1743-x.

Dennis, M. Y., & Eichler, E. E. (2016). Human adaptation and evolution by segmental duplication. Current Opinion in Genetics & Development, 41, 44-52. doi: 10.1016/j.gde.2016.08.001.

Duyzend, M. H., Nuttle, X., Coe, B. P., Baker, C., Nickerson, D. A., Bernier, R., & Eichler, E. E. (2016). Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. American Journal of Human Genetics, 98, 45-57. doi: 10.1016 j.ajhg.2015.11.017.

Fox, K., Johnsen, J. M., Coe, B. P., Frazar, C. D., Reiner, A. P., Nhlbi Exome Sequencing Project Minority Health-Grid Network., . . . Eichler, E.E., Nickerson, D. A. (2016). Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry. Transfusion. doi: 10.1111/trf.13797.

Gordon, D., Huddleston, J., Chaisson, M. J., Hill, C. M., Kronenberg, Z. N., Munson, K. M., . . . Eichler, E. E. (2016).Long-read sequence assembly of the gorilla genome. Science, 352, aae0344. doi: 10.1126/science.aae0344.

Hehir-Kwa, J. Y., Marschall, T., Kloosterman, W. P., Francioli, L. C., Baaijens, J. A., Dijkstra, L. J., . . ., Eichler, E.E., Guryev, V. (2016). A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. Nature Communications, 7, 12989. doi: 10.1038/ncomms12989.

Huddleston, J., Chaisson, M. J., Meltz Steinberg, K., Warren, W., Hoekzema, K., Gordon, D. S., . . . Eichler, E. E. (2016). Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome Research. doi: 10.1101/gr.214007.116.

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