ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; for the Professional Practice and Guidelines Committee. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med. 2014 Apr;16(4):347-55 PMID: 24651602.

Allache R, Lachance S, Guyot MC, De Marco P, Merello E, Justice MJ, Capra V, Kibar Z. Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway. Hum Mol Genet. 2014 Apr 1;23(7):1687-99 PMID: 24203697.

Awad SS, Rodriguez AH, Chuang YC, Marjanek Z, Pareigis AJ, Reis G, Scheeren TW, Sanchez AS, Xin Z, Saulay M, Engelhardt M.  A Phase 3 Randomized Double-blind Comparison of Ceftobiprole Medocaril Versus Ceftazidime plus Linezolid for the Treatment of Hospital-acquired Pneumonia. Clin Infect Dis. 2014 Apr 9 PMID: 24723282.

Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Bassez G, Eymard B, Gamez J, Ashizawa T, Mendell JR, Udd B, Krahe R. Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. Neuromuscul Disord. 2014 Mar;24(3):227-40 PMID: 24332166.

Battefeld A, Tran BT, Gavrilis J, Cooper EC, Kole MH. Heteromeric kv7.2/7.3  channels differentially regulate action potential initiation and conduction in neocortical myelinated axons. J Neurosci. 2014 Mar 5;34(10):3719-32 PMID: 24599470.

Berry SA, Lichter-Konecki U, Diaz GA, McCandless SE, Rhead W, Smith W, Lemons C, Nagamani SC, Coakley DF, Mokhtarani M, Scharschmidt BF, Lee B.  Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab. 2014 Feb 21 PMID: 24630270.

Born HA, Kim JY, Savjani RR, Das P, Dabaghian YA, Guo Q, Yoo JW, Schuler DR, Cirrito JR, Zheng H, Golde TE, Noebels JL, Jankowsky JL. Genetic Suppression of Transgenic APP Rescues Hypersynchronous Network Activity in a Mouse Model of Alzeimer's Disease. J Neurosci. 2014 Mar 12;34(11):3826-40 PMID: 24623762.

Burrage LC, Nagamani SC, Campeau PM, Lee BH. Branched-chain amino acid  metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. 2014 Apr 1 PMID: 24651065.

Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome sequencing study. Lancet Neurology. 2014 Jan;13(1):44-58. PMID: 24291220.

Cappuccio G, De Crescenzo A, Ciancia G, Canta L, Moio M, Mataro I, Varone V, Pettinato G, Palumbo O, Carella M, Riccio A, Brunetti-Pierri N. Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2014 Jan;164A(1):182-5 PMID: 24214456.

Charng WL, Yamamoto S, Jaiswal M, Bayat V, Xiong B, Zhang K, Sandoval H, David G, Gibbs S, Lu HC, Chen K, Giagtzoglou N, Bellen HJ. Drosophila Tempura, a novel protein prenyltransferase α subunit, regulates notch signaling via Rab1 and Rab11. PLoS Biol. 2014 Jan;12(1):e1001777 PMID: 24492843.

Cho-Clark M, Larco DO, Semsarzadeh NN, Vasta F, Mani SK, Wu TJ. GnRH-(1-5) transactivates EGFR in Ishikawa human endometrial cells via an orphan G protein- coupled receptor. Mol Endocrinol. 2014 Jan;28(1):80-98 PMID: 24264576.

Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML. Methyl-CpG- binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J Med Genet. 2014 Mar;51(3):152-8 PMID: 24399845.

Dao DQ, Perez EE, Teng Y, Dani JA, De Biasi M. Nicotine Enhances Excitability of  Medial Habenular Neurons via Facilitation of Neurokinin Signaling. J Neurosci. 2014 Mar 19;34(12):4273-84 PMID: 24647947.

Dasgupta S, Lonard DM, O'Malley BW. Nuclear receptor coactivators: master  regulators of human health and disease. Annu Rev Med. 2014;65:279-92 PMID: 24111892.

Donti TR, Stromberger C, Ge M, Eldin KW, Craigen WJ, Graham BH. Screen for  abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion. Dis Model Mech. 2014 Feb;7(2):271-80 PMID: 24271779.

E.M. Munivez, B. Dawson, T.K. Bertin, Y. Chen, R. Lua, O. Lichtarge, J. Hicks, M.A. Weis, D. Eyre, and B. Lee. Differential effects of collagen 3-prolyl hydroxylation on skeletal tissues. PLoS Genet. 2014 Jan;10(1):e1004121 PMID: 24465224.

E.P. Homan, C. Lietman, I. Grafe, J. Lennington, R. Morello, D. Napierala, M.M. Jiang,

Echeverria GV, Cooper TA.  Muscleblind-like 1 activates insulin receptor exon 11 inclusion by enhancing U2AF65 binding and splicing of the upstream intron.  Nucleic Acids Res. 2014 Feb;42(3):1893-903 PMID: 24185704.

Ecker AS, Berens P, Cotton RJ, Subramaniyan M, Denfield GH, Cadwell CR, Smirnakis SM, Bethge M, Tolias AS. State dependence of noise correlations in macaque  primary visual cortex. Neuron. 2014 Apr 2;82(1):235-48 PMID: 24698278.

Edlund RK, Ohyama T, Kantarci H, Riley BB, Groves AK. Foxi transcription factors promote pharyngeal arch development by regulating formation of FGF signaling centers. Dev Biol. 2014 Jun 1;390(1):1-13 PMID: 24650709.

El-Hattab AW, Emrick LT, Chanprasert S, Craigen WJ, Scaglia F. Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome. Int J Biochem Cell Biol. 2014 Mar;48:85-91 PMID: 24412347.

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Mar 20 PMID: 24651605.

Gonzaga-Jauregui C, Mir S, Penney S, Jhangiani S, Midgen C, Finegold M, Muzny DM, Wang M, Bacino CA, Genomics BH, Gibbs RA, Lupski JR, Kellermayer R, Hanchard NA.  Whole-Exome Sequencing Reveals GPIHBP1 Mutations in A Case of Infantile Colitis with Severe Hypertriglyceridemia.  J Pediatr Gastroenterol Nutr. 2014 Mar 6 PMID: 24614124.

Groves AK, LaBonne C. Setting appropriate boundaries: Fate, patterning and  competence at the neural plate border. Dev Biol. 2014 May 1;389(1):2-12 PMID: 24321819.

Han SJ, O'Malley BW. The dynamics of nuclear receptors and nuclear receptor  coregulators in the pathogenesis of endometriosis. Hum Reprod Update. 2014 Mar 14 PMID: 24634322.

Harel T, Lupski JR. Charcot Marie Tooth disease and pathways to molecular based  therapies. Clin Genet. 2014 Apr 2 PMID: 24697164.

Herman AM, Huang L, Murphey DK, Garcia I, Arenkiel BR. Cell type-specific and time-dependent light exposure contribute to silencing in neurons expressing Channelrhodopsin-2. Elife. 2014;3:e01481 PMID: 24473077.

Hong IH, Lewis K, Iakova P, Jin J, Sullivan E, Jawanmardi N, Timchenko L, Timchenko N. Age-associated change of C/EBP family proteins causes severe liver injury and acceleration of liver proliferation after CCl4 treatments. J Biol Chem. 2014 Jan 10;289(2):1106-18 PMID: 24273171.

Jerng HH, Pfaffinger PJ. Modulatory mechanisms and multiple functions of  somatodendritic A-type K (+) channel auxiliary subunits. Front Cell Neurosci. 2014;8:82 PMID: 24723849.

Jerng HH, Pfaffinger PJ. S-glutathionylation of an auxiliary subunit confers redox sensitivity to kv4 channel inactivation. PLoS One. 2014;9(3):e93315 PMID: 24675763.

Jusiak B, Karandikar UC, Kwak SJ, Wang F, Wang H, Chen R, Mardon G. Regulation  of Drosophila eye development by the transcription factor Sine oculis. PLoS One. 2014;9(2):e89695 PMID: 24586968.

Kalsotra A, Singh RK, Gurha P, Ward AJ, Creighton CJ, Cooper TA. The Mef2 transcription network is disrupted in myotonic dystrophy heart tissue, dramatically altering miRNA and mRNA expression. Cell Rep. 2014 Jan 30;6(2):336-45 PMID: 24412363.

Kang S, Xu M, Cooper EC, Hoshi N. Channel anchored protein kinase CK2 and  protein phosphatase 1 reciprocally regulate KCNQ2-containing M-channels via phosphorylation of calmodulin. J Biol Chem. 2014 Mar 13 PMID: 24627475.

Kang YK, Jung SY, Qin J, Li C, Tsai SY, Tsai MJ, O'Malley BW. E2/Estrogen receptor/  sjogren syndrome-associated autoantigen relieves coactivator activator-induced g1/ s arrest to promote breast tumorigenicity. Mol Cell Bio . 2014 May;34(9):1670-81 PMID: 24567374.

Kannan K, Coarfa C, Rajapakshe K, Hawkins SM, Matzuk MM, Milosavljevic A, Yen L. CDKN2D-WDFY2 Is a Cancer-Specific Fusion Gene Recurrent in High-Grade Serous Ovarian Carcinoma. PLoS Genet. 2014 Mar;10(3):e1004216 PMID: 24675677.

Kim BJ, Scott DA. Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells.  PLoS One. 2014;9(1):e87518 PMID: 24466353.

Kim S, Fonagy P, Allen J, Strathearn L. Mothers' unresolved trauma blunts amygdala response to infant distress. Soc Neurosci. 2014 Mar 17 PMID: 24635646.

Klassen TL, Bomben VC, Patel A, Drabek J, Chen TT, Gu W, Zhang F, Chapman K, Lupski JR, Noebels JL, Goldman AM. High-resolution molecular genomic autopsy  reveals complex sudden unexpected death in epilepsy risk profile. Epilepsia. 2014 Feb;55(2):e6-12 PMID: 24372310.

Kommagani R, Szwarc MM, Kovanci E, Creighton CJ, O'Malley BW, Demayo FJ, Lydon JP. A murine uterine transcriptome, responsive to steroid receptor coactivator-2, reveals transcription factor 23 as essential for decidualization of human endometrial stromal cells. Biol Reprod. 2014 Apr 10;90(4):75 PMID: 24571987.

Lee JS, Xiao J, Patel P, Schade J, Wang J, Deneen B, Erdreich-Epstein A, Song HR. A novel tumor-promoting role for nuclear factor IA in glioblastomas is mediated through negative regulation of p53, p21, and PAI1. Neuro Oncol. 2014 Jan;16(2):191-203 PMID: 24305710.

Lesniak DR, Marshall KL, Wellnitz SA, Jenkins BA, Baba Y, Rasband MN, Gerling GJ, Lumpkin EA. Computation identifies structural features that govern neuronal firing properties in slowly adapting touch receptors. Elife. 2014;3:e01488 PMID: 24448409.

Li JP, Yang CY, Chuang HC, Lan JL, Chen DY, Chen YM, Wang X, Chen AJ, Belmont JW, Tan TH. The phosphatase JKAP/DUSP22 inhibits T-cell receptor signalling and autoimmunity by inactivating Lck. Nat Commun. 2014 Apr 9;5:3618 PMID: 24714587.

Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR. Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication. Am J Hum Genet. 2014 Mar 6;94(3):462-9 PMID: 24530202.

Lugo JN, Swann JW, Anderson AE. Early-life seizures result in deficits in social  behavior and learning. Exp Neuro . 2014 Mar 29 PMID: 24685665.

Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L. Inherited  dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A. 2014 Feb;164A(2):500-4 PMID: 24311450.

Martinez HR, Craigen WJ, Ummat M, Adesina AM, Lotze TE, Jefferies JL. Novel cardiovascular findings in association with a POMT2 mutation: three siblings with a- dystroglycanopathy. Eur J Hum Genet. 2014 Apr;22(4):486-91 PMID: 24002165.

Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochm?ller H, Magy L, Manel V, Mayer M, et al. Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies. Hum Mutat. 2014 Apr 1 PMID: 24692096.

Mills R, Alati R, Strathearn L, Najman JM. Alcohol and tobacco use among  maltreated and non-maltreated adolescents in a birth cohort.  Addiction. 2014 Apr;109(4):672-80 PMID: 24325599.

Moayedi Y, Basch ML, Pacheco NL, Gao SS, Wang R, Harrison W, Xiao N, Oghalai JS, Overbeek PA, Mardon G, Groves AK. The candidate splicing factor Sfswap  regulates growth and patterning of inner ear sensory organs. PLoS Genet. 2014 Jan;10(1):e1004055 PMID: 24391519.

Motamed M, Rajapakshe KI, Hartig SM, Coarfa C, Moses RE, Lonard DM, O'Malley BW. Steroid Receptor Coactivator 1 is an Integrator of Glucose and NAD(+)/NADH Homeostasis.  Mol Endocrinol. 2014 Mar;28(3):395-405 PMID: 24438340.

Moustaqim-Barrette A, Lin YQ, Pradhan S, Neely GG, Bellen HJ, Tsuda H. The  amyotrophic lateral sclerosis 8 protein, VAP, is required for ER protein quality control. Hum Mol Genet. 2014 Apr 15;23(8):1975-89 PMID: 24271015.

Nam JW, Rissland OS, Koppstein D, Abreu-Goodger C, Jan CH, Agarwal V, Yildirim MA, Rodriguez A, Bartel DP. Global Analyses of the Effect of Different Cellular Contexts on MicroRNA Targeting. Mol Cell. 2014 Mar 20;53(6):1031-43 PMID: 24631284.

Olivetti PR, Maheshwari A, Noebels JL. Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome. Sci Transl Med. 2014 Jan 22;6(220):220ra12 PMID: 24452264.

Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, Reeder JL, Keaveny TM, Lee DC, Mullins MA, Nagamani SC, Lee B. Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J Clin Invest. 2014 Feb 3;124(2):491-8 PMID: 24463451.

Pal R, Monroe TO, Palmieri M, Sardiello M, Rodney GG. Rotenone induces  neurotoxicity through Rac1-dependent activation of NADPH oxidase in SHSY-5Y cells. FEBS Lett. 2014 Jan 31;588(3):472-81 PMID: 24374334.

Pedrotti S, Cooper TA. In Brief: (Mis)splicing in disease. J Pathol. 2014 Feb 24 PMID: 24615176.

Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN; Centers for Mendelian Genomics, Gibbs RA, Lupski JR. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur J Hum Genet. 2014 Jan 15 PMID: 24424126.

Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Somatic mosaicism  detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Jan 8 PMID: 24398791.

Piccolo P, Mithbaokar P, Sabatino V, Tolmie J, Melis D, Schiaffino MC, Filocamo M, Andria G, Brunetti-Pierri N. SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. Eur J Hum Genet. 2014 Jan 8 PMID: 24398790.

Quintavalle C, Costanzo S, Zanca C, Tasset I, Fraldi A, Incoronato M, Mirabelli P, Monti M, Ballabio A, Pucci P, Cuervo AM, Condorelli A. Phosphorylation-Regulated Degradation of the Tumor-Suppressor Form of PED by Chaperone-Mediated Autophagy in Lung Cancer Cells. J Cell Physiol. 2014 Jan 29 PMID: 24477641.

Radley-Crabb HG, Marini JC, Sosa HA, Castillo LI, Grounds MD, Fiorotto ML. Dystropathology increases energy expenditure and protein turnover in the mdx mouse model of Duchenne muscular dystrophy. PLoS One. 2014;9(2):e89277 PMID: 24586653.

Rathore GS, Schaaf CP, Stocco AJ. Novel mutation of the WDR45 gene causing beta-  propeller protein-associated neurodegeneration. Mov Disord. 2014 Apr;29(4):574-5 PMID: 24610255.

Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI; University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, et al. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet. 2014 Jan 2;94(1):144-52 PMID: 24387994.

Schaaf CP. Nicotinic acetylcholine receptors in human genetic disease. Genet Med. 2014 Feb 20 PMID: 24556925.

Schmitt F, Pastore N, Abarrategui-Pontes C, Flageul M, Myara A, Laplanche S, Labrune P, Podevin G, Nguyen T, Brunetti-Pierri N. Correction of hyperbilirubinemia in Gunn rats by surgical delivery of low doses of HDAd vectors. Hum Gene Ther Methods. 2014 Mar 4 PMID:24593043.

Sen P, Dharmadhikari AV, Majewski T, Mohammad MA, Kalin TV, Zabielska J, Ren X, Bray M, Brown HM, Welty S, Thevananther S, Langston C, Szafranski P, Justice MJ, Kalinichenko VV, Gambin A, Belmont J, Stankiewicz P. Comparative  analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. PLoS One. 2014;9(4):e94390 PMID: 24722050.

Shahmoradian SH, Galiano MR, Wu C, Chen S, Rasband MN, Mobley WC, Chiu W. Preparation of primary neurons for visualizing neurites in a frozen-hydrated state using cryo-electron tomography. J Vis Exp. 2014 Feb 12;(84):e50783 PMID: 24561719.

Sillitoe RV, George-Jones NA, Millen KJ, Hawkes R. Purkinje cell compartmentalization in the cerebellum of the spontaneous mutant mouse dreher. Brain Struct Funct. 2014 Jan;219(1):35-47 PMID: 23160833.

Soler-Alfonso C, Carvalho CM, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP. CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three- generation pedigree. Eur J Hum Genet. 2014 Jan 15 PMID: 24424125

Song W, Wang F, Lotfi P, Sardiello M, Segatori L. 2-Hydroxypropyl-β-cyclodextrin promotes transcription factor EB-mediated activation of autophagy: implications for therapy. J Biol Chem. 2014 Apr 4;289(14):10211-22 PMID: 24558044.

Stashi E, Lanz RB, Mao J, Michailidis G, Zhu B, Kettner NM, Putluri N, Reineke EL, Reineke LC, Dasgupta S, Dean A, Stevenson CR, Sivasubramanian N, Sreekumar A, Demayo F, York B, Fu L, O'Malley BW.  SRC-2 is an essential coactivator for orchestrating metabolism and circadian rhythm. Cell Rep. 2014 Feb 27;6(4):633-45

Stoopler ET, Sia YW, Chalian AA, O'Malley BW Jr, Alawi F. A rare presentation of multiple primary squamous cell carcinoma of the tongue in a patient with recurrent hepatitis C infection. Spec Care Dentist. 2014 Mar;34(2):96-9 PMID: 24588494.

Sun MY, Yetman MJ, Lee TC, Chen Y, Jankowsky JL. Specificity and efficiency of reporter expression in adult neural progenitors vary substantially among nestin-CreER(T2) lines. J Comp Neurol. 2014 Apr 1;522(5):1191-208 PMID: 24519019.

Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Brief report: MECP2 mutations in people without Rett syndrome. J Autism Dev Disord. 2014 Mar;44(3):703-11 PMID: 23921973.

Tardieu M, Zerah M, Husson B, de Bournonville S, Deiva K, Adamsbaum C, Vincent F, Hocquemiller M, Broissand C, Furlan V, Ballabio A, Fraldi A, Crystal R, Baugnon T, Roujeau T, Heard JM, Danos O. Intracerebral administration of AAV rh.10 carrying  human SGSH and SUMF1 cDNAs in children with MPSIIIA disease: results of a phase I/II trial. Hum Gene Ther. 2014 Feb 13 PMID: 24524415.

Terrone G, Cappuccio G, Genesio R, Esposito A, Fiorentino V, Riccitelli M, Nitsch L, Brunetti-Pierri N, Del Giudice E. A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. Am J Med Genet A. 2014 Jan;164A(1):190-3 PMID: 24243641.

Terrone G, Ruoppolo M, Brunetti-Pierri N, Cozzolino C, Scolamiero E, Parenti G, Romano A, Andria G, Salvatore F, Frisso G. Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder. Neurology. 2014 Jan 7;82(1):e1-4 PMID: 24379101.

Terunuma A, Putluri N, Mishra P, Mathé EA, Dorsey TH, Yi M, Wallace TA, Issaq HJ, Zhou M, Killian JK, Stevenson HS, Karoly ED, Chan K, Samanta S, Prieto D, Hsu TY, Kurley SJ, Putluri V, Sonavane R, Edelman DC, Wulff J, Starks AM, et al. MYC-driven  accumulation of 2-hydroxyglutarate is associated with breast cancer prognosis. J Clin Invest. 2014 Jan 2;124(1):398-412 PMID: 24316975

Venken KJ, Bellen HJ. Chemical mutagens, transposons, and transgenes to interrogate gene function in Drosophila melanogaster . Methods. 2014 Feb 28 PMID: 24583113.

Villegas E, Kabotyanski EB, Shore AN, Creighton CJ, Westbrook TF, Rosen JM.  Plk2 regulates mitotic spindle orientation and mammary gland development. Development. 2014 Apr;141(7):1562-71 PMID: 24598160.

Wang H, Wang X, Archer TK, Zwaka TP, Cooney AJ. GCNF-dependent activation of cyclin D1 expression via repression of Mir302a during ES cell differentiation. Stem Cells . 2014 Feb 28 PMID: 24578347

Wang W, Bian K, Vallabhaneni S, Zhang B, Wu RC, O'Malley BW, Long W. ERK3 Promotes Endothelial Cell Functions by Upregulating SRC-3/SP1-Mediated VEGFR2 Expression. J Cell Physiol. 2014 Feb 28 PMID: 24585635.

Wang Y, Lonard DM, Yu Y, Chow DC, Palzkill TG, Wang J, Qi R, Matzuk AJ, Song X, Madoux F, Hodder P, Chase P, Griffin PR, Zhou S, Liao L, Xu J, O'Malley BW. Bufalin Is a Potent Small-Molecule Inhibitor of the Steroid Receptor Coactivators SRC-3 and SRC-1. Cancer Res. 2014 Mar 1;74(5):1506-17 PMID: 24390736.

Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, et al. Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. PLoS Genet. 2014 Mar;10(3):e1004258 PMID: 24676022.

Weston MC, Chen H, Swann JW. Loss of mTOR repressors Tsc1 or Pten has divergent effects on excitatory and inhibitory synaptic transmission in single hippocampal neuron cultures. Front Mol Neurosci. 2014;7:1 PMID: 24574959. 

Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Wai Cheung S, Bacino C, Patel A. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan;22(1):79-87 PMID: 23695279.

Yao B, Lin L, Street RC, Zalewski ZA, Galloway JN, Wu H, Nelson DL, Jin P. Genome-  wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. Hum Mol Genet. 2014 Feb 15;23(4):1095-107 PMID: 24108107.

Yoshimura T, Rasband MN. Axon initial segments: diverse and dynamic neuronal compartments. Curr Opin Neurobiol. 2014 Apr 2;27C:96-102 PMID: 24705243.

Zaveri HP, Beck TF, Hernández-García A, Shelly KE, Montgomery T, van Haeringen A, Anderlid BM, Patel C, Goel H, Houge G, Morrow BE, Cheung SW, Lalani SR, Scott DA. Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. PLoS One. 2014;9(1):e85600 PMID: 24454898.