Applied Clinical Genomics Publications

2016

Attiyeh EF, Maris JM, Lock R, Reynolds CP, Kang MH, Carol H, Gorlick R, Kolb EA, Keir ST, Wu J, Landesman Y, Shacham S, Lyalin D, Kurmasheva RT. Pharmacodynamic and genomic markers associated with response to the XPO1/CRM1 inhibitor selinexor (KPT-330): a report from the Pediatric Preclinical Testing Program. Pediatr Blood Cancer 2016;63:276-286.

 

Bialk P, Sansbury B, Rivera-Torres N, Bloh K, Man D, Kmiec EB. Analyses of point mutation repair and allelic heterogeneity generated by CRISPR/Cas9 and single-stranded DNA oligonucleotides. Sci Rep 2016;6:32681.

 

Bosnyak E, Behen ME, Guy WC, Asano E, Chugani HT, Juhasz C. Predictors of cognitive functions in children with Sturge-Weber syndrome: a longitudinal study. Pediatr Neurol 2016;61:38-45.

 

Finkel TH, Li J, Wei Z, Wang W, Zhang H, Behrens EM, Reuschel EL, Limou S, Wise C, Punaro M, Becker ML, Munro JE, Flato B, Forre O, Thompson S, Langefeld CD, Glass DN, Glessner JT, Kim CE, Frackelton E, Shivers DK, Thomas KA, Chiavacci RM, Hou C, Qui H, Mentch F, Wang K, Winkler CA, Lie BA, Ellis JA, Hakonarson H. Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility. BMC Med Genet 2016;17:24.

 

Gopalakrishnapillai A, Kolb EA, Dhanan P, Bojja AS, Mason RW, Corao D, Barwe SP. Generation of pediatric leukemia xenograft models in NSG-B2m mice: comparison with NOD/SCID mice. Front Oncol 2016;6:162.

 

Gorlick R, Kolb EA, Keir ST, Maris JM, Lock RB, Carol H, Reynolds CP, Kang MH, Billups CA, Collins J, Kurmashev D, Kurmasheva RT, Houghton PJ, Smith MA. Initial testing of NSC 750854, a novel purine analog, against pediatric tumor models by the pediatric preclinical testing program. Pediatr Blood Cancer 2016;63:443-450.

 

Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A 2016 Jun 5 [Epub ahead of print].

 

Gripp KW, Baker L, Kandula V, Conard K, Scavina M, Napoli JA, Griffin GC, Thacker M, Knox RG, Clark GR, Parker VE, Semple R, Mirzaa G, Keppler-Noreuil KM. Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. Am J Med Genet A 2016;170:2559-2569.

 

Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome, and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. Am J Med Genet A 2016;170:559-564.

 

Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Atmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet 2016;48:36-43.

 

Hoffman LM, DeWire M, Ryall S, Buczkowicz P, Leach J, Miles L, Ramani A, Brudno M, Kumar SS, Drissi R, Dexheimer P, Salloum R, Chow L, Hummel T, Stevenson C, Lu QR, Jones B, Witte D, Aronow B, Hawkins CE, Fouladi M. Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics. Acta Neuropathol Commun 2016;4:1-3.

 

Kang MH, Reynolds CP, Kolb EA, Gorlick R, Carol H, Lock R, Keir ST, Maris JM, Wu J, Lyalin D, Kurmasheva RT, Houghton PJ, Smith MA. Initial testing (Stage 1) of MK-8242-A novel MDM2 inhibitor-by the Pediatric Preclinical Testing Program. Pediatr Blood Cancer 2016;63:1744-1752.

 

Koenighofer M, Hung CY, McCauley JL, Dallman J, Back EJ, Mihalek I, Gripp KW, Sol-Church K, Rusconi P, Zhang Z, Shi GX, Andres DA, Bodamer OA. Mutations in RIT1 cause Noonan syndrome: additional functional evidence and expanding the clinical phenotype. Clin Genet 2016;89:359-366.

 

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Ann Clin Transl Neurol 2016;3:132-145.

 

Lal CV, Travers C, Aghai ZH, Eipers P, Jilling T, Halloran B, Carlo WA, Keeley J, Rezonzew G, Kumar R, Morrow C, Bhandari V, Ambalavanan N. The airway microbiome at birth. Sci Rep 2016;6:31023.

 

Mahajan P, Kuppermann N, Mejias A, Suarez N, Chaussabel D, Casper TC, Smith B, Alpern ER, Anders J, Atabaki SM, Bennett JE, Blumberg S, Bonsu B, Borgialli D, Brayer A, Browne L, Cohen DM, Crain EF, Cruz AT, Dayan PS, Gattu R, Greenberg R, Hoyle JD Jr, Jaffe DM, Levine DA, Lillis K, Linakis JG, Muenzer J, Nigrovic LE, Powell EC, Rogers AJ, Roosevelt G, Ruddy RM, Saunders M, Tunik MG, Tzimenatos L, Vitale M, Dean JM, Ramilo O; Pediatric Emergency Care Applied Research Network (PECARN). Association of RNA biosignatures with bacterial infections in febrile infants ages 60 days or younger. JAMA 2016;316:846-857.

 

Robbins AK, Mateson AB, Khandha A, Pugarelli JE, Buchanan TS, Akins RE, Barthold JS. Fetal rat gubernaculums mesenchymal cells adopt myogenic and myofibroblast-like phenotypes. J Urol 2016;196:270-278.

 

Robbins KM, Stabley DL, Holbrook J, Sahraoui R, Sadreameli A, Conrad K, Baker L, Gripp KW, Sol-Church K. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma. Am J Med Genet A 2016 Sep 2 [Epub ahead of print].

 

Rossi SL, Lumpkin CJ, Harris AW, Holbrook J, Gentillon C, McCahan SM, Wang W, Butchbach MER. Identification of early gene expression changes in primary cultured neurons treated with topoisomerase I poisons. Biochem Biophys Res Commun 2016;479:319-324.

 

Steinfeld H, Cho MT, Retterer K, Person R, Schaefer GB, Danylchuk N, Malik S, Wechsler SB, Wheeler PG, van Gassen KL, Terhal PA, Verhoeven VJ, van Slegtenhorst MA, Monaghan KG, Henderson LB, Chung WK. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics 2016;17:159-164.

 

Suk KT, Mederacke I, Gwak GY, Cho SW, Adeyemi A, Friedman R, Schwabe RF. Opposite roles of cannabinoid receptors 1 and 2 in hepatocarcinogenesis. Gut 2016 May 11 [Epub ahead of print].

 

Wang Y, Li J, Kolon TF, Olivant Fisher A, Figueroa TE, BaniHani AH Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Stabley D, Kim CE, Sol-Church K, Hakonarson H, Devoto M, Barthold JS. Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. BMC Urol 2016;16:62-63.

 

Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH. SRD5A3-CDG: expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult-onset features. Am J Med Genet A 2016;170:3165-3171.

 

2015

Averill LW, Kandula VV, Akyol Y, Epelman M. Fetal brain magnetic resonance imaging findings in congenital cytomegalovirus infection with postnatal imaging correlation. Semin Ultrasound CT MR 2015;36:476-486.

 

Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet 2015;11:e1005050. 

 

Burton BK, Balwani M, Feillet F, Baric I, Burrow A, Grande CC, Coker M, Consuelo-Sánchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG. A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency. New Engl J Med 2015;373:1010-1020.

 

Crowgey EL, Stabley DL, Chen C, Huang H, Robbins KM, Polson SW, Sol-Church K, Wu CH. An integrated approach for analyzing clinical genomic variant data from next-generation sequencing. J Biomol Tech 2015 Jan 29 [Epub ahead of print].

 

Dugan J, Griffith E, Snow P, Rosenzweig H, Lee E, Brown B, Carr DW, Rosé CD, Rosenbaum J, Davey MP. A Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 1 and limits responses to muramyl dipeptide in knock-in mice 2. J Immunol 2015;194:349-357.

 

Ellis JA, Scurrah KJ, Li YR, Ponsonby AL, Chavez RA, Pezic A, Dwyer T, Akikusa JD, Allen RC, Becker ML, Thompson SD, Lie BA, Flatø B, Førre O, Punaro M, Wise C, Finkel TH, Hakonarson H, Munro JE. Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis. J Steroid Biochem Mol Biol 2015;145:113-120. 

 

Findlay AR, Wein N, Kaminoh Y, Taylor LE, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Howard MT, Day JW, McDonald C, Nicolas A, Le Rumeur E, Weiss RB, Flanigan KM; United Dystrophinopathy Project. Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45. Ann Neurol 2015;77:668-674. 

 

Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church  K. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A 2015;167:271-281.

 

Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G. An attenuated phenotype of Costello syndrome in three unrelated individuals with an HRAS c.179G>A(p.Gly60Asp) mutation correlates with uncommon functional consequences. Am J Med Genet A 2015 Apr 25 [Epub ahead of print].

 

Gustave J, Splaingard M. Sleep apnea in children with cleft lip and palate. In: Losee JE, Kirschner RE, Smith DM, eds. Comprehensive Cleft Care: Family Edition. CRC Press: Boca Raton. 2015;177-186.

 

Hurd L, Kirwin SM, Boggs M, Mackenzie WG, Bober MB, Funanage VL, Duncan RL. A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. Am J Med Genet A 2015;167A:2286-2293.

 

 Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain 2015;138(Pt 8):2173-2190. 

 

Kim HH, Kim P, Phay M, Yoo S. Identification of precursor microRNAs within distal axons of sensory neuron. J Neurochem 2015;134:193-199.  

 

Kim HH, Lee SJ, Gardiner AS, Perrone-Bizzozero NI, Yoo S. Different motif requirements for the localization zipcode element of beta-actin mRNA binding by HuD and ZBP1. Nucleic Acids Res 2015;43:7432-7446.

 

Koenighofer M, Hung CY, McCauley JL, Dallman J, Back EJ, Mihalek I, Gripp KW, Sol-Church K, Rusconi P, Zhang Z, Shi GX, Andres DA, Bodamer OA. Mutations in RIT1 cause Noonan syndrome: additional functional evidence and expanding the clinical phenotype. Clin Genet 2015 May 9 [Epub ahead of print].

 

Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, Hou C, Abrams DJ, Chang D, Gao F, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Glessner JT, Li D, Kao C, Thomas KA, Qiu H, Chiavacci RM, Kim CE, Wang F, Snyder J, Richie MD, Flatø B, Førre Ø, Denson LA, Thompson SD, Becker ML, Guthery SL, Latiano A, Perez E, Resnick E, Russell RK, Wilson DC, Silverberg MS, Annese V, Lie BA, Punaro M, Dubinsky MC, Monos DS, Strisciuglio C, Staiano A, Miele E, Kugathasan S, Ellis JA, Munro JE, Sullivan KE, Wise CA, Chapel H, Cunningham-Rundles C, Grant SF, Orange JS, Sleiman PM, Behrens EM, Griffiths AM, Satsangi J, Finkel TH, Keinan A, Prak ET, Polychronakos C, Baldassano RN, Li H, Keating BJ, Hakonarson H. Meta-analysis of shared genetic architecture across 10 pediatric autoimmune diseases. Nat Med 2015;21:1018-1027. 

 

Li YR, Zhao SD, Li J, Bradfield JP, Mohebnasab M, Steel L, Kobie J, Abrams DJ, Mentch FD, Glessner JT, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Li D, Maggadottir SM, Thomas KA, Qui H, Chiavacci RM, Kim CE, Wang F, Snyder J, Flatø B, Førre Ø, Denson LA, Thompson SD, Becker ML, Guthery SL, Latiano A, Perez E, Resnick E, Strisciuglio C, Staiano A, Miele E, Silverberg MS, Lie BA, Punaro M, Russell RK, Wilson DC, Dubinsky MC, Monos DS, Annese V, Munro JE, Wise C, Chapel H, Cunningham-Rundles C, Orange JS, Behrens EM, Sullivan KE, Kugathasan S, Griffiths AM, Satsangi J, Grant SF, Sleiman PM, Finkel TH, Polychronakos C, Baldassano RN, Luning Prak ET, Ellis JA, Li H, Keating BJ, Hakonarson H. Genetic sharing and heritability of paediatric age of onset autoimmune diseases. Nat Commun 2015;6:8442-8443. 

 

Li Z, Langhans SA. Transcriptional regulators of Na,K-ATPase subunits. Front Cell Dev Biol 2015;3:66-67.

 

Lin P, Raikar S, Jimenez J, Conard K, Furuya KN. Novel mutation in the lysosomal acid lipase gene. Case Rep Genet 2015;342-347.

 

Merianda TT, Coleman J, Kim HH, Kumar Sahoo P, Gomes C, Brito-Vargas P, Rauvala H, Blesch A, Yoo S, Twiss JL. Axonal amphoterin mRNA is regulated by translational control and enhances axon outgrowth. J Neurosci 2015;35:5693-5706.

 

Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies. Am J Hum Genet 2015;96:816-825. 

 

Ross JL, Tartaglia N, Merry DE, Dalva M, Zinn AR. Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features. Genes Brain Behav 2015 Jan 6 [Epub ahead of print].

 

Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Miklita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAAb+ ion protease. Am J Hum Genet 2015;96:121-135.

 

Wang SR, Jacobsen CM, Carmichael H, Edmund AB, Robinson JW, Olney RC, Miller TC, Moon JE, Mericq V, Potter LR, Warman ML, Hirschhorn JN, Dauber A. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Hum Mutat 2015;36:474-481. 

 

Webb BD, Wheeler PG, Hagen JJ, Cohen N, Linderman MD, Diaz GA, Naidich TP, Rodenburg RJ, Houten SM, Schadt EE. Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. Hum Mutat 2015;36:587-592.

 

Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet 2015;52:413-421.

 

Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG. Association of a novel ACTA1 mutation with a dominant progressive scapuloperoneal myopathy in an extended family. JAMA Neurol 2015;72:689-698.

 

 

2014

Akyol Y, Averill LW, Atanda A, Kecskemethy HH, Bober MB, Mackenzie WG. Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia. Pediatr Radiol 2014 Nov 29 [Epub ahead of print]

 

Baratela WA, Bober MB, Thacker MM, Belthur MV, Oto M, Rogers KJ, Mackenzie WG. Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases. J Pediatr Orthop 2014;34:223-8.

 

Barthold JS, Robbins A, Wang Y, Pugarelli J, Mateson A, Anand-Ivell R, Ivell R, McCahan SM, Akins RE Jr. Cryptorchidism in the orl rat is associated with muscle patterning defects in the fetal gubernaculum and altered hormonal signaling. Biol Reprod 2014;91:41-2.

 

Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden, KR, Abrams DJ, Kim CE, Mateson AB, Robbins AK, Li J, Akins RE Jr, Hakonarson H, Devoto M. Phenotype-specific association of the TGFBR3 locus with nonsyndromic cryptorchidism. J Urol 2014 Oct 25 [Epub ahead of print]

 

Barthold JS. Undescended testis (cryptorchidism). In: Gomella LG, Andriole AL, Flanigan, RC, Keane TE, Koo HP, Moul JW, Thomas R, eds. Five-Minute Urology Consult. Wolters Kluwer: The Netherlands. 2014;536-7.

 

Barthold JS. Torsion, testis and testicular appendages. In: Gomella LG, Andriole AL, Flanigan, RC, Keane TE, Koo HP, Moul JW, Thomas R, eds. Five-Minute Urology Consult. Wolters Kluwer: The Netherlands. 2014;518-9.

 

Beck M, Arn P, Guigliani R, Muenzer J, Okuyama T, Taylor J, Fallet S. The natural history of MPS I: global perspectives from the MPS I registry. Genet Med 2014;16:759-65.

 

Beydoun MA, Nalls MA, Canas JA, Evans MK, Zonderman AB. Gene polymorphisms and gene scores linked to low serum carotenoid status and their associations with metabolic disturbance and depressive symptoms in African-American adults. Br J Nutr 2014;112:992-1003.

 

Boyle MP, Bell SC, Konstan MW, McColley SA, Rowe SM, Rietschel E, Huang X, Waltz D, Patel NR, Rodman D; VX09-809-102 Study Group (Livingston F). A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Lancet Respir Med 2014;2:527-38.

 

Chowdhury S, Bandholz AM, Parkash S, Dyack S, Rideout AL, Leppig KA, Thiese H, Wheeler PG, Tsang M, Ballif BC, Shaffer G, Torchia BS, Ellison JW, Rosenfeld JA. Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients. Am J Med Genet 2014;164A:62-9.

 

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, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med 2014;16:751-8.

 

Getoh L, Inoue K, Helman G, Mora S, Maski K, Soul J, Bloom M, Evans SH, Goto Y, Caldovic L, Hobson GM, Vanderver A (Drs. Hobson and Vanderver are co-senior authors). GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. Mol Genet Metab 2014;111:393-8.

 

Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A 2014 Jun 18 [Epub ahead of print]

 

Gripp KW, Robbins KM, Sobreira NL, Witmer D, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A 2014 Nov 13 [Epub ahead of print]

 

Kirwin SM, Manolakos A, Barnett SS, Gonzalez IL. Tafazzin splice variants and mutations in Barth syndrome. Mol Genet Metab 2014;111:26-32.

 

Manthey AL, Lachke SA, FitzGerald PG, Mason RW, Scheiblin DA, McDonald JH, Duncan MK. Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development. Mech Dev 2014;131:86-110.

 

Murray JE, Bicknell LS, Yigit G, Duker AL, Van Kogelenberg M, Wieczorek D, Kayserili H, Wise C, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth S, Doonanco S, Ades L, Ma A, Field M, Johnson D, Woods CG, Gatti R, Hurles M, Bober MB, Wollnik B Jackson AP. Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat 2014;35:76-85.

 

Rodriguez E, Sakowski L, Hobson GM, Armani MH, Kreiger PA, Zhu Y, Waldman SA, Shaffer TH. Plp1 gene duplication inhibits airway responsiveness and induces lung inflammation. Pulm Pharmacol Ther 2014;30:22-31.

 

Tanjuakio J, Suzuki Y, Patel P, Yasuda E, Kubaski F, Tanaka A, Yabe H, Mason RW, Montaño AM, Orii KE, Orii KO, Fukao T, Orii T, Tomatsu S. Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation. Mol Genet Metab 2014;192:347-3.

 

Taube JR, Sperle K, Banser L, Seeman P, Cavan BC, Garbern JY, Hobson GM. PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing. Hum Mol Genet 2014;23:5464-78.

 

Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Del Gaudio D, Yuksel A, Bober MB, Kim J, Boyadjiev SA. Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlaps with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A 2014;164:1062-8.

 

Weaver KN, Wang D, Cnota J, Gardner N, Stabley D, Sol-Church K, Gripp KW, Witte D, Bove KE, Hopkin RJ. Early-lethal Costello syndrome due to rare HRAS tandem base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease. Pediatr Dev Pathol 2014 Aug 18 [Epub ahead of print]

 

Weh E, Reis LM, Happ HC, Levin AV, Wheeler PG, David KL, Carney E, Angle B, Hauser N, Semina EV. Whole exome sequence analysis of Peters anomaly. Hum Genet 2014;133:1497-511. Wheeler PG, Huang K, Dai Z. Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals. Am J Med Genet 2014;16:1826-9.

 

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; on behalf of 4H Research Group (Hobson G). Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 2014 Oct 22 [Epub ahead of print].