| |
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-Wodl 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, Lopez-Gonzalez 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.
PMID: 30696996 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-Wodl 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, Lopez-Gonzalez 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.
PMID: 30349098 16p12.2 Recurrent Deletion
Girirajan S, Pizzo L, Moeschler J, Rosenfeld J, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A
. 1993;
PMID: 25719193 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 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 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.
PMID: 25666439 Geospatial association between adverse birth outcomes and arsenic in groundwater in New Hampshire, USA.
Shi X, Ayotte JD, Onda A, Miller S, Rees J, Gilbert-Diamond D, Onega T, Gui J, Karagas M, Moeschler J
Environ Geochem Health. 2015 Apr;37(2):333-51. doi: 10.1007/s10653-014-9651-2. Epub 2014 Oct 19.
PMID: 25326895 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.
PMID: 25157020 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.
PMID: 24824130 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.
PMID: 24518794 View more publications on PubMed |
