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2005 1
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2019 8
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32 results

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Page 1
Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early life prospective cohort.
Virolainen SJ, Satish L, Biagini JM, Chaib H, Chang WC, Dexheimer PJ, Dixon MR, Dunn KA, Fletcher D, Forney C, Granitto M, Hestand MS, Hurd M, Kaufman K, Lawson LP, Martin LJ, Peña LD, Phelan KJ, Shook MS, Weirauch MT, Khurana Hershey GK, Kottyan LC. Virolainen SJ, et al. Among authors: hestand ms. JCI Insight. 2024 Apr 2:e178258. doi: 10.1172/jci.insight.178258. Online ahead of print. JCI Insight. 2024. PMID: 38564302 Free article.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, … See abstract for full author list ➔ Cleynen I, et al. Among authors: hestand ms. Mol Psychiatry. 2021 Aug;26(8):4496-4510. doi: 10.1038/s41380-020-0654-3. Epub 2020 Feb 3. Mol Psychiatry. 2021. PMID: 32015465 Free PMC article.
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Vervoort L, Demaerel W, Rengifo LY, Odrzywolski A, Vergaelen E, Hestand MS, Breckpot J, Devriendt K, Swillen A, McDonald-McGinn DM, Fiksinski AM, Zinkstok JR, Morrow BE, Heung T, Vorstman JAS, Bassett AS, Chow EWC, Shashi V; International 22q11.2 Brain; Behavior Consortium; Vermeesch JR. Vervoort L, et al. Among authors: hestand ms. Hum Mol Genet. 2019 Nov 15;28(22):3724-3733. doi: 10.1093/hmg/ddz166. Hum Mol Genet. 2019. PMID: 31884517 Free PMC article.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium; Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE. Zhao Y, et al. Am J Hum Genet. 2020 Jan 2;106(1):26-40. doi: 10.1016/j.ajhg.2019.11.010. Epub 2019 Dec 20. Am J Hum Genet. 2020. PMID: 31870554 Free PMC article.
Erratum: Author Correction: Improved reference genome for the domestic horse increases assembly contiguity and composition.
Kalbfleisch TS, Rice ES, DePriest MS Jr, Walenz BP, Hestand MS, Vermeesch JR, O'Connell BL, Fiddes IT, Vershinina AO, Saremi NF, Petersen JL, Finno CJ, Bellone RR, McCue ME, Brooks SA, Bailey E, Orlando L, Green RE, Miller DC, Antczak DF, MacLeod JN. Kalbfleisch TS, et al. Among authors: hestand ms. Commun Biol. 2019 Sep 11;2:342. doi: 10.1038/s42003-019-0591-3. eCollection 2019. Commun Biol. 2019. PMID: 31531403 Free PMC article.
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, Vermeesch JR. Demaerel W, et al. Among authors: hestand ms. Genome Res. 2019 Sep;29(9):1389-1401. doi: 10.1101/gr.248682.119. Genome Res. 2019. PMID: 31481461 Free PMC article.
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS, Demaerel W, Geremek M, Emanuel BS, Zackai EH, Vermeesch JR, McDonald-McGinn D. Unolt M, et al. Among authors: hestand ms. Genet Med. 2020 Feb;22(2):326-335. doi: 10.1038/s41436-019-0645-4. Epub 2019 Sep 2. Genet Med. 2020. PMID: 31474763 Free PMC article.
The Versatility of SMRT Sequencing.
Hestand MS, Ameur A. Hestand MS, et al. Genes (Basel). 2019 Jan 4;10(1):24. doi: 10.3390/genes10010024. Genes (Basel). 2019. PMID: 30621217 Free PMC article.
Improved reference genome for the domestic horse increases assembly contiguity and composition.
Kalbfleisch TS, Rice ES, DePriest MS Jr, Walenz BP, Hestand MS, Vermeesch JR, O Connell BL, Fiddes IT, Vershinina AO, Saremi NF, Petersen JL, Finno CJ, Bellone RR, McCue ME, Brooks SA, Bailey E, Orlando L, Green RE, Miller DC, Antczak DF, MacLeod JN. Kalbfleisch TS, et al. Among authors: hestand ms. Commun Biol. 2018 Nov 16;1:197. doi: 10.1038/s42003-018-0199-z. eCollection 2018. Commun Biol. 2018. PMID: 30456315 Free PMC article.
32 results