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Items: 1 to 50 of 62

1.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y.

2.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Erratum in: Genet Med. 2019 Jan 29;:.

3.

Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.

Herriges JC, Brown S, Longhurst M, Ozmore J, Moeschler JB, Janze A, Meck J, South ST, Andersen EF.

Eur J Med Genet. 2019 Jan;62(1):9-14. doi: 10.1016/j.ejmg.2018.04.011. Epub 2018 Apr 24.

PMID:
29698806
4.

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.

Rosenfeld JA, Fox JE, Descartes M, Brewer F, Stroud T, Gorski JL, Upton SJ, Moeschler JB, Monteleone B, Neill NJ, Lamb AN, Ballif BC, Shaffer LG, Ravnan JB.

Am J Med Genet A. 2015 Feb;167A(2):345-53.

PMID:
25756153
5.

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

Brookes E, Laurent B, Õunap K, Carroll R, Moeschler JB, Field M, Schwartz CE, Gecz J, Shi Y.

Hum Mol Genet. 2015 May 15;24(10):2861-72. doi: 10.1093/hmg/ddv046. Epub 2015 Feb 9.

6.

Comprehensive evaluation of the child with intellectual disability or global developmental delays.

Moeschler JB, Shevell M; Committee on Genetics.

Pediatrics. 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839. Review.

PMID:
25157020
7.

6q22.1 microdeletion and susceptibility to pediatric epilepsy.

Szafranski P, Von Allmen GK, Graham BH, Wilfong AA, Kang SH, Ferreira JA, Upton SJ, Moeschler JB, Bi W, Rosenfeld JA, Shaffer LG, Wai Cheung S, Stankiewicz P, Lalani SR.

Eur J Hum Genet. 2015 Feb;23(2):173-9. doi: 10.1038/ejhg.2014.75. Epub 2014 May 14.

8.

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

van Karnebeek CD, Shevell M, Zschocke J, Moeschler JB, Stockler S.

Mol Genet Metab. 2014 Apr;111(4):428-38. doi: 10.1016/j.ymgme.2014.01.011. Epub 2014 Jan 24. Review.

9.

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S.

Ann Neurol. 2013 Aug;74(2):164-70. doi: 10.1002/ana.23950. Review.

PMID:
23775934
10.

So what? Does the test lead to improved health outcomes?

Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S, Trevathan E.

Neurology. 2012 Feb 7;78(6):440-1; author reply 441-2. doi: 10.1212/WNL.0b013e318248042c. No abstract available.

PMID:
22311931
11.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.

Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.

12.

Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S.

Neurology. 2011 Oct 25;77(17):1629-35. doi: 10.1212/WNL.0b013e3182345896. Epub 2011 Sep 28. Review.

PMID:
21956720
13.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.

Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2.

14.

National profile of children with Down syndrome: disease burden, access to care, and family impact.

McGrath RJ, Stransky ML, Cooley WC, Moeschler JB.

J Pediatr. 2011 Oct;159(4):535-40.e2. doi: 10.1016/j.jpeds.2011.04.019. Epub 2011 Jun 12.

PMID:
21658713
15.

Invited comment on terminology.

Moeschler JB, Nisbeft J.

Am J Med Genet A. 2011 May;155A(5):972-3. doi: 10.1002/ajmg.a.33830. Epub 2011 Mar 15. No abstract available.

PMID:
21412970
16.

Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).

Graham JM Jr, Clark RD, Moeschler JB, Rogers RC.

Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):477-85. doi: 10.1002/ajmg.c.30284. Review.

17.

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE.

Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14.

18.

Access to genetic counseling for children with autism, Down syndrome, and intellectual disabilities.

McGrath RJ, Laflamme DJ, Schwartz AP, Stransky M, Moeschler JB.

Pediatrics. 2009 Dec;124 Suppl 4:S443-9. doi: 10.1542/peds.2009-1255Q.

PMID:
19948611
19.

FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.

Clark RD, Graham JM Jr, Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE.

Genet Med. 2009 Nov;11(11):769-75. doi: 10.1097/GIM.0b013e3181bd3d90.

20.

Improving genetic health care: a Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability.

Moeschler JB, Amato RS, Brewster T, Burke L, Dinulos MB, Smith R, Smith W, Miller P.

Am J Med Genet C Semin Med Genet. 2009 Aug 15;151C(3):241-54. doi: 10.1002/ajmg.c.30221.

PMID:
19621460
21.

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.

Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik-Zaccai T, Lewin SO, Lott IT, McGillivray BC, Moeschler JB, Pettenati MJ, Pueschel SM, Rao KW, Shaffer LG, Shohat M, Van Riper AJ, Warburton D, Weissman S, Gerstein MB, Snyder M, Korenberg JR.

Proc Natl Acad Sci U S A. 2009 Jul 21;106(29):12031-6. doi: 10.1073/pnas.0813248106. Epub 2009 Jul 13.

22.

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.

Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, Slavotinek A, Hogue J, Moeschler JB, Ozmore J, Widmer R, Bruno D, Savarirayan R, Peters G.

J Med Genet. 2009 Jul;46(7):480-9. doi: 10.1136/jmg.2008.065391. Epub 2009 May 15. Erratum in: J Med Genet. 2009 Aug;46(8):576. Bruno, Damien [added].

PMID:
19447831
23.

How best to use CGH arrays in the clinical setting.

Saul RA, Moeschler JB.

Genet Med. 2009 May;11(5):371; author reply 371-2. doi: 10.1097/GIM.0b013e31819dbf9f. No abstract available.

PMID:
19346958
24.

Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.

Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE.

Am J Med Genet A. 2008 Dec 1;146A(23):3011-7. doi: 10.1002/ajmg.a.32553.

25.

Additional EFNB1 mutations in craniofrontonasal syndrome.

Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M.

Am J Med Genet A. 2008 Aug 1;146A(15):2008-12. doi: 10.1002/ajmg.a.32388. No abstract available.

26.

Genetic evaluation of intellectual disabilities.

Moeschler JB.

Semin Pediatr Neurol. 2008 Mar;15(1):2-9. doi: 10.1016/j.spen.2008.01.002. Review.

PMID:
18342255
27.

Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability.

Moeschler JB.

Curr Opin Neurol. 2008 Apr;21(2):117-22. doi: 10.1097/WCO.0b013e3282f82c2d. Review.

PMID:
18317267
28.

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr.

Am J Med Genet A. 2007 Dec 15;143A(24):2981-3008.

29.

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ.

Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4.

PMID:
17334363
30.

Clinical genetic evaluation of the child with mental retardation or developmental delays.

Moeschler JB, Shevell M; American Academy of Pediatrics Committee on Genetics.

Pediatrics. 2006 Jun;117(6):2304-16. Review.

PMID:
16740881
31.

Deletion of chromosome 21 disturbs human brain morphogenesis.

Yao G, Chen XN, Flores-Sarnat L, Barlow GM, Palka G, Moeschler JB, McGillivray B, Morse RP, Korenberg JR.

Genet Med. 2006 Jan;8(1):1-7.

PMID:
16418593
32.

Response to "Scientifically unsupported and supported interventions for childhood psychopathology: a summary".

Kliewer C, Broderick A, Oyler C, Cardinal DN, Kluth P, Moeschler JB, Schneiderman H.

Pediatrics. 2005 Jul;116(1):290; author reply 290-2. No abstract available.

PMID:
15995077
33.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG.

Am J Hum Genet. 2005 Apr;76(4):609-22. Epub 2005 Feb 28.

34.

Estimate of prevalence of proximal 15q duplication syndrome.

Moeschler JB, Mohandas TK, Hawk AB, Noll WW.

Am J Med Genet. 2002 Sep 1;111(4):440-2. No abstract available.

PMID:
12210307
35.

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.

Mohandas TK, Park JP, Spellman RA, Filiano JJ, Mamourian AC, Hawk AB, Belloni DR, Noll WW, Moeschler JB.

Am J Med Genet. 1999 Feb 12;82(4):294-300.

PMID:
10051161
36.

Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).

Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK.

Am J Med Genet. 1998 Jun 30;78(2):134-9.

PMID:
9674903
37.

Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2.

Park JP, Moeschler JB, Davies WS, Patel PI, Mohandas TK.

Am J Med Genet. 1998 Apr 28;77(1):23-7.

PMID:
9557889
38.

Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?

Butler MG, Hedges LK, Rogan PK, Seip JR, Cassidy SB, Moeschler JB.

Am J Med Genet. 1997 Oct 3;72(1):111-4. No abstract available.

39.

Isochromosome 18q revisited.

Park JP, Moeschler JB.

Prenat Diagn. 1997 Jun;17(6):589-90. No abstract available.

PMID:
9203222
40.

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW.

Am J Hum Genet. 1996 Mar;58(3):491-8.

41.

Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome.

Weng EY, Moeschler JB, Graham JM Jr.

Am J Med Genet. 1995 May 8;56(4):366-73.

PMID:
7541608
42.

Radiological features in Brachmann-de Lange syndrome.

Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr.

Am J Med Genet. 1993 Nov 15;47(7):1006-13. Review.

PMID:
8291513
43.
44.

Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype.

Park JP, McDermet MK, Doody AM, Marin-Padilla JM, Moeschler JB, Wurster-Hill DH.

Am J Med Genet. 1993 Jan 1;45(1):46-8.

PMID:
8418658
45.

A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.

Park JP, McDermet MK, Moeschler JB, Wurster-Hill DH.

Ann Genet. 1993;36(4):217-20.

PMID:
8166428
46.

A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant.

Park JP, Moeschler JB, Berg SZ, Bauer RM, Wurster-Hill DH.

Clin Genet. 1992 Jan;41(1):54-6.

PMID:
1633649
47.

Prenatal diagnosis and confirmation of trisomy 12 mosaicism.

Park JP, McDermet MK, Moeschler JB, Wurster-Hill DH.

Prenat Diagn. 1991 Sep;11(9):741. No abstract available.

PMID:
1822676
48.

Familial translocation 5;14 resulting in an unbalanced offspring.

Park JP, Edwards MJ, Moeschler JB, Marin-Padilla JM, Berg SZ, Wurster-Hill DH.

Am J Med Genet. 1991 Jun 1;39(3):362-6.

PMID:
1867291
49.

Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).

Park JP, Moeschler JB, Berg SZ, Wurster-Hill DH.

J Med Genet. 1991 Apr;28(4):282-3.

50.

Trisomy 18 and 18p- features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report.

Wurster-Hill DH, Marin-Padilla JM, Moeschler JB, Park JP, McDermet M.

Clin Genet. 1991 Feb;39(2):142-8. Review.

PMID:
2015695

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