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Items: 1 to 50 of 147

1.

Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.

Vidal-Folch N, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Oglesbee D.

Clin Chem. 2018 Oct 23. pii: clinchem.2018.293712. doi: 10.1373/clinchem.2018.293712. [Epub ahead of print]

PMID:
30352867
2.

Embryonic lethality in mice due to carnitine transporter OCTN2 defect and placental carnitine deficiency.

Shekhawat PS, Sonne S, Matern D, Ganapathy V.

Placenta. 2018 Sep;69:71-73. doi: 10.1016/j.placenta.2018.06.312. Epub 2018 Jun 30.

PMID:
30213487
3.

Reduced active transcellular intestinal oxalate secretion contributes to the pathogenesis of obesity-associated hyperoxaluria.

Amin R, Asplin J, Jung D, Bashir M, Alshaikh A, Ratakonda S, Sharma S, Jeon S, Granja I, Matern D, Hassan H.

Kidney Int. 2018 May;93(5):1098-1107. doi: 10.1016/j.kint.2017.11.011. Epub 2018 Feb 1.

PMID:
29395336
4.

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.

Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ.

Orphanet J Rare Dis. 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x. Review.

5.

Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.

Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D.

Mol Genet Genomic Med. 2017 Nov;5(6):795-799. doi: 10.1002/mgg3.333. Epub 2017 Sep 11.

6.

Precision newborn screening for lysosomal disorders.

Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P.

Genet Med. 2018 Aug;20(8):847-854. doi: 10.1038/gim.2017.194. Epub 2017 Nov 9.

PMID:
29120458
7.

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.

Tortorelli S, Eckerman JS, Orsini JJ, Stevens C, Hart J, Hall PL, Alexander JJ, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P.

Genet Med. 2018 Aug;20(8):840-846. doi: 10.1038/gim.2017.190. Epub 2017 Nov 2.

PMID:
29095812
8.

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.

Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J, Matern D, Harding CO, Vockley J.

J Inherit Metab Dis. 2017 Nov;40(6):831-843. doi: 10.1007/s10545-017-0085-8. Epub 2017 Sep 4.

PMID:
28871440
9.

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.

Vidal-Folch N, Milosevic D, Majumdar R, Gavrilov D, Matern D, Raymond K, Rinaldo P, Tortorelli S, Abraham RS, Oglesbee D.

J Mol Diagn. 2017 Sep;19(5):755-765. doi: 10.1016/j.jmoldx.2017.05.011.

PMID:
28826609
10.

Psychosine, a marker of Krabbe phenotype and treatment effect.

Escolar ML, Kiely BT, Shawgo E, Hong X, Gelb MH, Orsini JJ, Matern D, Poe MD.

Mol Genet Metab. 2017 Jul;121(3):271-278. doi: 10.1016/j.ymgme.2017.05.015. Epub 2017 May 22.

11.

Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?

Carter RL, Wrabetz L, Jalal K, Orsini JJ, Barczykowski AL, Matern D, Langan TJ.

J Neurosci Res. 2016 Nov;94(11):1084-93. doi: 10.1002/jnr.23793.

PMID:
27638594
12.

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.

Tortorelli S, Turgeon CT, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Matern D.

Clin Chem. 2016 Sep;62(9):1248-54. doi: 10.1373/clinchem.2016.256255. Epub 2016 Jul 20.

13.

Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation.

McCoin CS, Piccolo BD, Knotts TA, Matern D, Vockley J, Gillingham MB, Adams SH.

J Inherit Metab Dis. 2016 May;39(3):399-408. doi: 10.1007/s10545-016-9915-3. Epub 2016 Feb 23.

14.

Newborn screening for lysosomal storage disorders.

Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S.

Semin Perinatol. 2015 Apr;39(3):206-16. doi: 10.1053/j.semperi.2015.03.005. Epub 2015 Apr 16. Review.

PMID:
25891428
15.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D.

Genet Med. 2016 Feb;18(2):162-7. doi: 10.1038/gim.2015.45. Epub 2015 Apr 9.

PMID:
25856670
16.

Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease.

Turgeon CT, Orsini JJ, Sanders KA, Magera MJ, Langan TJ, Escolar ML, Duffner P, Oglesbee D, Gavrilov D, Tortorelli S, Rinaldo P, Raymond K, Matern D.

J Inherit Metab Dis. 2015 Sep;38(5):923-9. doi: 10.1007/s10545-015-9822-z. Epub 2015 Mar 12.

PMID:
25762404
17.

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

Matern D, Rinaldo P.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Apr 20 [updated 2015 Mar 5].

18.

Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors.

Guenzel AJ, Collard R, Kraus JP, Matern D, Barry MA.

Hum Gene Ther. 2015 Mar;26(3):153-60. doi: 10.1089/hum.2014.126.

19.

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.

Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S.

Mol Genet Metab. 2015 Jan;114(1):46-50. doi: 10.1016/j.ymgme.2014.11.013. Epub 2014 Nov 27.

PMID:
25481105
20.

Composition of protein supplements used for human embryo culture.

Morbeck DE, Paczkowski M, Fredrickson JR, Krisher RL, Hoff HS, Baumann NA, Moyer T, Matern D.

J Assist Reprod Genet. 2014 Dec;31(12):1703-11. doi: 10.1007/s10815-014-0349-2. Epub 2014 Sep 27.

21.

Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.

De Jesús VR, Adam BW, Mandel D, Cuthbert CD, Matern D.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):67-75. doi: 10.1016/j.ymgme.2014.07.010. Epub 2014 Jul 17.

22.

Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia.

Guenzel AJ, Hillestad ML, Matern D, Barry MA.

Hum Gene Ther. 2014 Sep;25(9):837-43. doi: 10.1089/hum.2014.012. Epub 2014 Aug 21.

23.

Composition of commercial media used for human embryo culture.

Morbeck DE, Krisher RL, Herrick JR, Baumann NA, Matern D, Moyer T.

Fertil Steril. 2014 Sep;102(3):759-766.e9. doi: 10.1016/j.fertnstert.2014.05.043. Epub 2014 Jul 4.

PMID:
24998366
24.

TATN-1 mutations reveal a novel role for tyrosine as a metabolic signal that influences developmental decisions and longevity in Caenorhabditis elegans.

Ferguson AA, Roy S, Kormanik KN, Kim Y, Dumas KJ, Ritov VB, Matern D, Hu PJ, Fisher AL.

PLoS Genet. 2013;9(12):e1004020. doi: 10.1371/journal.pgen.1004020. Epub 2013 Dec 19.

25.

Dietary docosahexaenoic acid supplementation in children with autism.

Voigt RG, Mellon MW, Katusic SK, Weaver AL, Matern D, Mellon B, Jensen CL, Barbaresi WJ.

J Pediatr Gastroenterol Nutr. 2014 Jun;58(6):715-22. doi: 10.1097/MPG.0000000000000260.

PMID:
24345834
26.

Adaptive and automated ambiance surveillance and event detection for Ambient Assisted Living.

Matern D, Condurache A, Mertins A.

Conf Proc IEEE Eng Med Biol Soc. 2013;2013:7318-21. doi: 10.1109/EMBC.2013.6611248.

PMID:
24111435
27.

Altered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorder.

Gillingham MB, Harding CO, Schoeller DA, Matern D, Purnell JQ.

Am J Physiol Endocrinol Metab. 2013 Nov 15;305(10):E1299-308. doi: 10.1152/ajpendo.00225.2013. Epub 2013 Sep 24.

28.

High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.

Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G.

Clin Chem. 2013 Oct;59(10):1461-9. doi: 10.1373/clinchem.2013.207472. Epub 2013 Jul 9.

29.

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Matern D, Oglesbee D, Tortorelli S.

Dev Disabil Res Rev. 2013;17(3):247-53. doi: 10.1002/ddrr.1117. Review.

30.

Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.

Guenzel AJ, Hofherr SE, Hillestad M, Barry M, Weaver E, Venezia S, Kraus JP, Matern D, Barry MA.

Mol Ther. 2013 Jul;21(7):1316-23. doi: 10.1038/mt.2013.68. Epub 2013 May 7.

31.

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.

Hall P, Michels V, Gavrilov D, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):176-8. doi: 10.1016/j.ymgme.2013.04.004. Epub 2013 Apr 10.

PMID:
23628460
32.

Thiopurine methyltransferase screening before azathioprine prescription: a physician survey.

Taylor-Gjevre RM, Gjevre JA, Nair BV, Matern D.

J Popul Ther Clin Pharmacol. 2013;20(1):e13-7. Epub 2013 Jan 23.

PMID:
23392829
33.

Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers.

Simon A, Drenth JP, Matern D, Goetzman ES, Hager EJ, Gibson KM.

Mol Genet Metab. 2013 Mar;108(3):166-71. doi: 10.1016/j.ymgme.2013.01.004. Epub 2013 Jan 15.

34.

Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory response.

Sonne S, Shekhawat PS, Matern D, Ganapathy V, Ignatowicz L.

PLoS One. 2012;7(10):e47729. doi: 10.1371/journal.pone.0047729. Epub 2012 Oct 24.

35.

Enzymes involved in L-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: implications for gut health.

Shekhawat PS, Sonne S, Carter AL, Matern D, Ganapathy V.

J Crohns Colitis. 2013 Jul;7(6):e197-205. doi: 10.1016/j.crohns.2012.08.011. Epub 2012 Sep 21.

36.

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG.

Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6.

37.

Potential of inner cell mass outgrowth and amino acid turnover as markers of quality in the in vitro fertilization laboratory.

Gada RP, Daftary GS, Walker DL, Lacey JM, Matern D, Morbeck DE.

Fertil Steril. 2012 Oct;98(4):863-9.e1. doi: 10.1016/j.fertnstert.2012.06.012. Epub 2012 Jul 6.

PMID:
22771026
38.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL.

Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16.

PMID:
22766634
39.

Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance.

Votava F, Novotna D, Kracmar P, Vinohradska H, Stahlova-Hrabincova E, Vrzalova Z, Neumann D, Malikova J, Lebl J, Matern D.

Eur J Pediatr. 2012 Jun;171(6):935-40. doi: 10.1007/s00431-011-1656-6. Epub 2012 Jan 11.

PMID:
22234478
40.

Neurologic considerations in propionic acidemia.

Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman AL.

Mol Genet Metab. 2012 Jan;105(1):10-5. doi: 10.1016/j.ymgme.2011.10.003. Epub 2011 Oct 19. Review.

PMID:
22078457
41.

Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation.

Behrend AM, Harding CO, Shoemaker JD, Matern D, Sahn DJ, Elliot DL, Gillingham MB.

Mol Genet Metab. 2012 Jan;105(1):110-5. doi: 10.1016/j.ymgme.2011.09.030. Epub 2011 Oct 1.

42.

Acute management of propionic acidemia.

Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A.

Mol Genet Metab. 2012 Jan;105(1):16-25. doi: 10.1016/j.ymgme.2011.09.026. Epub 2011 Sep 24. Review.

43.

Natural history of propionic acidemia.

Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar ML.

Mol Genet Metab. 2012 Jan;105(1):5-9. doi: 10.1016/j.ymgme.2011.09.022. Epub 2011 Sep 22. Review.

PMID:
21986446
44.

Chronic management and health supervision of individuals with propionic acidemia.

Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A.

Mol Genet Metab. 2012 Jan;105(1):26-33. doi: 10.1016/j.ymgme.2011.08.034. Epub 2011 Sep 10. Review.

PMID:
21963082
45.

Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.

Gillingham MB, Hirschfeld M, Lowe S, Matern D, Shoemaker J, Lambert WE, Koeller DM.

Mol Genet Metab. 2011 Nov;104(3):261-4. doi: 10.1016/j.ymgme.2011.06.017. Epub 2011 Jun 28.

46.

Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.

Sarafoglou K, Matern D, Redlinger-Grosse K, Bentler K, Gaviglio A, Harding CO, Rinaldo P.

Pediatrics. 2011 Jul;128(1):e246-50. doi: 10.1542/peds.2010-3918. Epub 2011 Jun 13.

PMID:
21669895
47.

UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach.

Hanchard NA, Skierka J, Weaver A, Karon BS, Matern D, Cook W, O'Kane DJ.

BMC Med Genet. 2011 Apr 22;12:57. doi: 10.1186/1471-2350-12-57.

48.

Expanded newborn screening for detection of vitamin B12 deficiency.

Sarafoglou K, Rodgers J, Hietala A, Matern D, Bentler K.

JAMA. 2011 Mar 23;305(12):1198-200. doi: 10.1001/jama.2011.310. No abstract available.

PMID:
21427371
49.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra-González I, Ingham CA, Ivanova M, Jacox WB, John C, Johnson JP, Jónsson JJ, Karg E, Kasper D, Klopper B, Katakouzinos D, Khneisser I, Knoll D, Kobayashi H, Koneski R, Kozich V, Kouapei R, Kohlmueller D, Kremensky I, la Marca G, Lavochkin M, Lee SY, Lehotay DC, Lemes A, Lepage J, Lesko B, Lewis B, Lim C, Linard S, Lindner M, Lloyd-Puryear MA, Lorey F, Loukas YL, Luedtke J, Maffitt N, Magee JF, Manning A, Manos S, Marie S, Hadachi SM, Marquardt G, Martin SJ, Matern D, Mayfield Gibson SK, Mayne P, McCallister TD, McCann M, McClure J, McGill JJ, McKeever CD, McNeilly B, Morrissey MA, Moutsatsou P, Mulcahy EA, Nikoloudis D, Norgaard-Pedersen B, Oglesbee D, Oltarzewski M, Ombrone D, Ojodu J, Papakonstantinou V, Reoyo SP, Park HD, Pasquali M, Pasquini E, Patel P, Pass KA, Peterson C, Pettersen RD, Pitt JJ, Poh S, Pollak A, Porter C, Poston PA, Price RW, Queijo C, Quesada J, Randell E, Ranieri E, Raymond K, Reddic JE, Reuben A, Ricciardi C, Rinaldo P, Rivera JD, Roberts A, Rocha H, Roche G, Greenberg CR, Mellado JM, Juan-Fita MJ, Ruiz C, Ruoppolo M, Rutledge SL, Ryu E, Saban C, Sahai I, García-Blanco MI, Santiago-Borrero P, Schenone A, Schoos R, Schweitzer B, Scott P, Seashore MR, Seeterlin MA, Sesser DE, Sevier DW, Shone SM, Sinclair G, Skrinska VA, Stanley EL, Strovel ET, Jones AL, Sunny S, Takats Z, Tanyalcin T, Teofoli F, Thompson JR, Tomashitis K, Domingos MT, Torres J, Torres R, Tortorelli S, Turi S, Turner K, Tzanakos N, Valiente AG, Vallance H, Vela-Amieva M, Vilarinho L, von Döbeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM.

Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67.

PMID:
21325949
50.

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C.

Hum Mol Genet. 2011 Apr 1;20(7):1285-9. doi: 10.1093/hmg/ddq569. Epub 2011 Jan 6.

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