Publications

Fiscal Year 2017 Publications from Institute Faculty

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. Bick D, Fraser PC, Gutzeit MF, Harris JM, Hambuch TM, Helbling DC, Jacob HJ, Kersten JN, Leuthner SR, May T, North PE, Prisco SZ, Schuler BA, Shimoyama M, Strong KA, Van Why SK, Veith R, Verbsky J, Weborg AM Jr, Wilk BM, Willoughby RE Jr, Worthey EA, Dimmock DP. PMID: 28496993 [PubMed – in process]

Rapid whole genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick Type C1 Disease in a 7 week old male with cholestasis. Hildreth A, Wigby K, Chowdhury S, Nahas S, Barea J, Ordonez P, Batalov S, Dimmock DM, Investigators R, Kingsmore SF. Cold Spring Harb Mol Case Stud. 2017 May 26. pii: mcs.a001966. doi: 10.1101/mcs.a001966. [Epub ahead of print] PMID: 28550066 [PubMed – as supplied by publisher]  Similar articles

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants:.. J Inherit Metab Dis. 2017 May;40(3):403-414. doi: 10.1007/s10545-017-0035-5. Epub 2017 Mar 16. PMID: 28303425 [PubMed – in process]

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. PMID: 27834756 [PubMed – in process] Free Article

Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection. Mitzelfelt KA, McDermott-Roe C, Grzybowski MN, Marquez M, Kuo CT, Riedel M, Lai S, Choi MJ, Kolander KD, Helbling D, Dimmock DP, Battle MA, Jou CJ, Tristani-Firouzi M, Verbsky JW, Benjamin IJ, Geurts AM. Stem Cell Reports. 2017 Mar 14;8(3):491-499. doi: 10.1016/j.stemcr.2017.01.021. Epub 2017 Feb 24. PMID: 28238794 [PubMed – in process] Free PMC Article

Presentation and Diagnostic Evaluation of Mitochondrial Disease. Dimmock DP, Lawlor MW. Pediatr Clin North Am. 2017 Feb;64(1):161-171. doi: 10.1016/j.pcl.2016.08.011. Review. PMID: 27894442 [PubMed – indexed for MEDLINE]

Newborn Sequencing in Genomic Medicine and Public Health
. Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Pediatrics. 2017 Jan 17. pii: e20162252. doi: 10.1542/peds.2016-2252. PMID: 28096516


Fiscal Year 2016 Publications 

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R. AmJ Hum Genet. 2016 Sep 7. pii: S0002-9297(16)30293-2. PMID: 27616480

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. Am J Hum Genet. 2016 Sep 1;99(3):785. PMID:27588454

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG; Greater Middle East Variome Consortium, Alkuraya FS, Casanova JL, Gleeson JG. Nat Genet. 2016 Sep;48(9):1071-6. PMID: 27428751

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia. Kariminejad A, Schöls L, Schüle R, Tonekaboni SH, Abolhassani A, Fadaee M, Rosti RO, Gleeson JG. Eur J Paediatr Neurol. 2016 Sep;20(5):782-7. PMID: 27292318

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. Zaki MS, Selim L, El-Bassyouni HT, Issa MY, Mahmoud I, Ismail S, Girgis M, Sadek AA, Gleeson JG, Abdel Hamid MS. Eur J Paediatr Neurol. 2016 Sep;20(5):714-22. PMID: 27289259

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D’Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM. J Med Genet. 2016 Sep;53(9):608-15. PMID: 27208211

A hybrid computational strategy to address WGS variant analysis in >5000 samples. Huang Z, Rustagi N, Veeraraghavan N, Carroll A, Gibbs R, Boerwinkle E, Venkata MG, Yu F.  BMC Bioinformatics. 2016 Sep 10;17(1):361. PMID: 27612449.

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJ, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Walter K, Chen L, Yanek L, Becker LC, Peloso GM, Wakabayashi A, Kals M, Metspalu A, Esko T, Fox K, Wallace R, Franceschini N, Matijevic N, Rice KM, Bartz TM, Lyytikäinen LP, Kähönen M, Lehtimäki T, Raitakari OT, Li-Gao R, Mook-Kanamori DO, Lettre G, van Duijn CM, Franco OH, Rich SS, Rivadeneira F, Hofman A, Uitterlinden AG, Wilson JG, Psaty BM, Soranzo N, Dehghan A, Boerwinkle E, Zhang X, Johnson AD, O’Donnell CJ, Johnsen JM, Reiner AP, Ganesh SK, Sankaran VG.  Am J Hum Genet. 2016 Sep 1;99(3):785. PMID: 27588453.

Zika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters Proliferation. Li H, Saucedo-Cuevas L, Regla-Nava JA, Chai G, Sheets N, Tang W, Terskikh AV, Shresta S, Gleeson JG. Cell Stem Cell. 2016 Aug 17. pii: S1934-5909(16)30252-1. PMID: 27545505

DCLK1 phosphorylates the microtubule-associated protein MAP7D1 to promote axon elongation in cortical neurons. Koizumi H, Fujioka H, Togashi K, Thompson J, Yates JR 3rd, Gleeson JG, Emoto K. Dev Neurobiol. 2016 Aug 9. PMID: 27503845

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, Chi NC, Gabriel S, Erson-Omay EZ, Ercan-Sencicek AG, Yasuno K, Çağlayan AO, Kaymakçalan H, Ekici B, Bilguvar K, Gunel M, Gleeson JG. Am J Hum Genet. 2016 Aug 4;99(2):501-10. doi:10.1016/j.ajhg.2016.07.004. PMID: 27453578

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. Roosing S, Rosti RO, Rosti B, de Vrieze E, Silhavy JL, van Wijk E, Wakeling E, Gleeson JG. Hum Genet. 2016 Aug;135(8):919-21. PMID: 27245168

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJ, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Walter K, Chen L, Yanek L, Becker LC, Peloso GM, Wakabayashi A, Kals M, Metspalu A, Esko T, Fox K, Wallace R, Franceshini N, Matijevic N, Rice KM, Bartz TM, Lyytikäinen LP, Kähönen M, Lehtimäki T, Raitakari OT, Li-Gao R, Mook-Kanamori DO, Lettre G, van Duijn CM, Franco OH, Rich SS, Rivadeneira F, Hofman A, Uitterlinden AG, Wilson JG, Psaty BM, Soranzo N, Dehghan A, Boerwinkle E, Zhang X, Johnson AD, O’Donnell CJ, Johnsen JM, Reiner AP, Ganesh SK, Sankaran VG. Am J Hum Genet. 2016 Aug 4;99(2):481-8. PMID: 27486782.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. Am J Hum Genet. 2016 Jul 7;99(1):228-35. PMID: 27392077

Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. Mol Genet Metab. 2016 Jul;118(3):178-84. doi: 10.1016/j.ymgme.2016.04.009. Epub 2016 Apr 20. PMID: 27312126 [PubMed – in process

Choices of incidental findings of individuals undergoing genome wide sequencing, a single center’s experience. Bishop CL, Strong KA, Dimmock DP. Clin Genet. 2016 Jul 8. PMID: 27392285

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG. Ann Neurol. 2016 Jul;80(1):59-70. PMID: 27130255

Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation. Kim JH, Ki SM, Joung JG, Scott E, Heynen-Genel S, Aza Blanc P, Kwon CH, Kim J, Gleeson JG, Lee JE. Biochim Biophys Acta. 2016 Jun;1863(6 PtA):1307-18. PMID: 27033521

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG. Am J Med Genet A. 2016 Apr;170A(4):992-8. PMID: 27001912

Positions in the Human Genome: Challenges for Genetic Analyses. Campbell IM, Gambin T, Jhangiani SN, Grove ML, Veeraraghavan N, Muzny DM, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR. Multiallelic Hum Mutat. 2016 Mar;37(3):231-4. PMID: 26670213.

Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JL, Lawlor MW, Dimmock DP. Free Radic Biol Med. 2016 Mar;92:141-51. PMID: 26773591

Newborn testing and screening by whole-genome sequencing. Kingsmore SF. Genet Med. 2016 Mar;18(3):214-6. PMID: 26681311.

Should states adopt newborn screening for early infantile Krabbe disease? Dimmock DP. Genet Med. 2016 Mar;18(3):217-20. PMID: 26845105

Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Yu B, Pulit SL, Hwang SJ, Brody JA, Amin N, Auer PL, Bis JC, Boerwinkle E, Burke GL, Chakravarti A, Correa A, Dreisbach AW, Franco OH, Ehret GB, Franceschini N, Hofman A, Lin DY, Metcalf GA, Musani SK, Muzny D, Palmas W, Raffel L, Reiner A, Rice K, Rotter JI, Veeraraghavan N, Fox E, Guo X, North KE, Gibbs RA, van Duijn CM, Psaty BM, Levy D, Newton-Cheh C, Morrison AC; CHARGE Consortium and the National Heart, Lung, and Blood Institute GO ESP*.  Circ Cardiovasc Genet. 2016 Feb;9(1):64-70. PMID: 26658788.

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS. Am J Hum Genet. 2016 Jan 7;98(1):210-5. PMID: 26708753

Host gene expression classifiers diagnose acute respiratory illness etiology. Tsalik EL, Henao R, Nichols M, Burke T, Ko ER, McClain MT, Hudson LL, Mazur A, Freeman DH, Veldman T, Langley RJ, Quackenbush EB, Glickman SW, Cairns CB, Jaehne AK, Rivers EP, Otero RM, Zaas AK, Kingsmore SF, Lucas J, Fowler VG Jr, Carin L, Ginsburg GS, Woods CW.  Sci Transl Med. 2016 Jan 20;8(322):322ra11. PMID: 26791949

USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE. Brenner SE, Kingsmore S, Mooney SD, Nussbaum R, Puck J. Pac Symp Biocomput. 2016;21:568-75. PMID: 26776219.

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development. Baek ST, Copeland B, Yun EJ, Kwon SK, Guemez-Gamboa A, Schaffer AE, Kim S, Kang HC, Song S, Mathern GW, Gleeson JG. Nat Med. 2015 Dec;21(12):1445-54. PMID: 26523971

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders. Smith LD, Willig LK, Kingsmore SF. Cold Spring Harb Perspect Med. 2015 Dec 18;6(2):a023168. PMID: 26684335.

Rapid whole genome sequencing and precision neonatology. Petrikin JE, Willig LK, Smith LD, Kingsmore SF.  Semin Perinatol. 2015 Dec;39(8):623-31. PMID: 26521050.

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. PMID: 26385635

The human gene damage index as a gene-level approach to prioritizing exome variants. Itan Y, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, Scott E, Ciancanelli MJ, Lafaille FG, Markle JG, Martinez-Barricarte R, de Jong SJ, Kong XF, Nitschke P, Belkadi A, Bustamante J, Puel A, Boisson-Dupuis S, Stenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Claverie JM, Zhang SY, Abel L, Casanova JL. Proc Natl Acad Sci USA. 2015 Nov 3;112(44):13615-20. PMID: 26483451

Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA. Kang HC, Baek ST, Song S, Gleeson JG. J Pediatr. 2015 Nov;167(5):957-62. PMID: 26340871

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Eur J Hum Genet. 2015 Nov;23(11):1482-7. PMID: 25920557

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families. Zaki MS, Masri A, Gregor A, Gleeson JG, Rosti RO. Am J Med Genet A. 2015 Nov;167A(11):2503-7. PMID: 26109232

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT. Nat Genet. 2015 Nov;47(11):1260-3. PMID: 26437028.

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization. Thiffault I, Speca DJ, Austin DC, Cobb MM, Eum KS, Safina NP, Grote L, Farrow EG, Miller N, Soden S, Kingsmore SF, Trimmer JS, Saunders CJ, Sack JT.  J Gen Physiol. 2015 Nov;146(5):399-410. PMID: 26503721.

Renal systems biology of patients with systemic inflammatory response syndrome. Tsalik EL, Willig LK, Rice BJ, van Velkinburgh JC, Mohney RP, McDunn JE, Dinwiddie DL, Miller NA, Mayer ES, Glickman SW, Jaehne AK, Glew RH, Sopori ML, Otero RM, Harrod KS, Cairns CB, Fowler VG, Rivers EP, Woods CW, Kingsmore SF, Langley RJ.  Kidney Int. 2015 Oct;88(4):804-14. PMID: 25993322

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene. Conti V, Pantaleo M, Barba C, Baroni G, Mei D, Buccoliero AM, Giglio S, Giordano F, Baek ST, Gleeson JG, Guerrini R. Clin Genet. 2015 Sep;88(3):241-7. PMID: 25091978

CXCR3 Polymorphism and Expression Associate with Spontaneous Preterm Birth. Karjalainen MK, Ojaniemi M, Haapalainen AM, Mahlman M, Salminen A, Huusko JM, Määttä TA, Kaukola T, Anttonen J, Ulvila J, Haataja R, Teramo K, Kingsmore SF, Palotie A, Muglia LJ, Rämet M, Hallman M. J Immunol. 2015 Sep 1;195(5):2187-98. PMID: 26209629.

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF.  Genome Med. 2015 Sep 30;7:100. PMID: 26419432.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TM, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJ, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJ, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Nat Cell Biol. 2015 Aug;17(8):1074-87. PMID: 26167768

Polo-like kinase 2 regulates angiogenic sprouting and blood vessel development. Yang H, Fang L, Zhan R, Hegarty JM, Ren J, Hsiai TK, Gleeson JG, Miller YI, Trejo J, Chi NC. Dev Biol. 2015 Aug 15;404(2):49-60. PMID: 26004360

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG. Nat Genet. 2015 Jul;47(7):809-13. PMID: 26005868

Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis. Zaki MS, Selim L, Mansour L, Mahmoud IG, Fenstermaker AG, Gabriel SB, Gleeson JG. Clin Genet. 2015 Jul;88(1):95-7. PMID: 25496456

Alström Syndrome: Mutation Spectrum of ALMS1. Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK.  Hum Mutat. 2015 Jul;36(7):660-8. PMID: 25846608

Good laboratory practice for clinical next-generation sequencing informatics pipelines. Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM. Nat Biotechnol. 2015 Jul;33(7):689-93. PMID: 26154004

Emergency medical genomes: a breakthrough application of precision medicine. Kingsmore SF, Petrikin J, Willig LK, Guest E. Genome Med. 2015 Jul 30;7(1):82. PMID: 26229553.

TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. Maraş-Genç H, Uyur-Yalçın E, Rosti RÖ, Gleeson JG, Kara B. Turk J Pediatr. 2015 May-Jun;57(3):286-9. PMID: 26701950

Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. Sanjeev RK, Kapoor S, Goyal M, Kapur R, Gleeson JG. Case Rep Pediatr. 2015;2015:385910. PMID: 26075130

Cerebral Palsy and Polymorphism of the Chemokine CCL18 in Very Preterm Children. Kallankari H, Huusko JM, Kaukola T, Ojaniemi M, Mahlman M, Marttila R, Kingsmore SF, Haataja L, Lavoie PM, Synnes A, Hallman M.  Neonatology. 2015;108(2):124-9. PMID: 26113374.

Clinical detection of deletion structural variants in whole-genome sequences. Noll AC, Neil A Miller, Laurie D Smith, Byunggil Yoo, Stephanie Fiedler, Linda D Cooley, Laurel K Willig, Josh E Petrikin, Julie Cakici, John Lesko, Angela Newton, Kali Detherage, Isabelle Thiffault, Carol J Saunders, Emily G Farrow, Kingsmore SF. npj Genomic Medicine 1, 16026

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences. Twist GP, Andrea Gaedigk, Neil A Miller, Emily G Farrow, Laurel K Willig, Darrell L Dinwiddie, Josh E Petrikin, Sarah E Soden, Suzanne Herd, Margaret Gibson, Julie A Cakici, Amanda K Riffel, J Steven Leeder, Dinakarpandian D, Kingsmore SF.  npj Genomic Medicine 1, 15007