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Items: 1 to 50 of 138

1.

Spontaneous hyperactivity in Ash1l mutant mice, a new model for Tourette syndrome.

Liu S, Tian M, He F, Li J, Xie H, Liu W, Zhang Y, Zhang R, Yi M, Che F, Ma X, Zheng Y, Deng H, Wang G, Chen L, Sun X, Xu Y, Wang J, Zang Y, Han M, Wang X, Guan H, Ge Y, Wu C, Wang H, Liang H, Li H, Ran N, Yang Z, Huang H, Wei Y, Zheng X, Sun X, Feng X, Zheng L, Zhu T, Luo W, Chen Q, Yan Y, Huang Z, Jing Z, Guo Y, Zhang X, Schaaf CP, Xing J, Wang C, Yu F, Guan JS.

Mol Psychiatry. 2020 Feb;25(2):241-242. doi: 10.1038/s41380-019-0642-7. No abstract available.

PMID:
31965035
2.

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.

Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP.

Hum Mol Genet. 2020 Feb 1;29(3):459-470. doi: 10.1093/hmg/ddz305.

PMID:
31943016
3.

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.

Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L.

Hum Mutat. 2020 Mar;41(3):632-640. doi: 10.1002/humu.23950. Epub 2019 Nov 25.

PMID:
31696996
4.

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome.

Crutcher E, Pal R, Naini F, Zhang P, Laugsch M, Kim J, Bajic A, Schaaf CP.

Sci Rep. 2019 Nov 4;9(1):15935. doi: 10.1038/s41598-019-52287-2.

5.

Mutations in ASH1L confer susceptibility to Tourette syndrome.

Liu S, Tian M, He F, Li J, Xie H, Liu W, Zhang Y, Zhang R, Yi M, Che F, Ma X, Zheng Y, Deng H, Wang G, Chen L, Sun X, Xu Y, Wang J, Zang Y, Han M, Wang X, Guan H, Ge Y, Wu C, Wang H, Liang H, Li H, Ran N, Yang Z, Huang H, Wei Y, Zheng X, Sun X, Feng X, Zheng L, Zhu T, Luo W, Chen Q, Yan Y, Huang Z, Jing Z, Guo Y, Zhang X, Schaaf CP, Xing J, Wang C, Yu F, Guan JS.

Mol Psychiatry. 2020 Feb;25(2):476-490. doi: 10.1038/s41380-019-0560-8. Epub 2019 Oct 31.

PMID:
31673123
6.

Micro-CT and histological investigation of the spatial pattern of feto-placental vascular density.

Aughwane R, Schaaf C, Hutchinson JC, Virasami A, Zuluaga MA, Sebire N, Arthurs OJ, Vercauteren T, Ourselin S, Melbourne A, David AL.

Placenta. 2019 Dec;88:36-43. doi: 10.1016/j.placenta.2019.09.014. Epub 2019 Sep 29.

7.

Climate change decreases the cooling effect from postfire albedo in boreal North America.

Potter S, Solvik K, Erb A, Goetz SJ, Johnstone JF, Mack MC, Randerson JT, Román MO, Schaaf CL, Turetsky MR, Veraverbeke S, Walker XJ, Wang Z, Massey R, Rogers BM.

Glob Chang Biol. 2020 Mar;26(3):1592-1607. doi: 10.1111/gcb.14888. Epub 2019 Nov 19.

PMID:
31658411
8.

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.

Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP.

Hum Mol Genet. 2019 Oct 10. pii: ddz233. doi: 10.1093/hmg/ddz233. [Epub ahead of print]

PMID:
31600777
9.

Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex.

Ballinger EC, Schaaf CP, Patel AJ, de Maio A, Tao H, Talmage DA, Zoghbi HY, Role LW.

eNeuro. 2019 Nov 1;6(6). pii: ENEURO.0134-19.2019. doi: 10.1523/ENEURO.0134-19.2019. Print 2019 Nov/Dec.

10.

Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.

Benjamin RH, Yu X, Navarro Sanchez ML, Chen H, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Lupo PJ, Agopian AJ.

Birth Defects Res. 2019 Nov 1;111(18):1356-1364. doi: 10.1002/bdr2.1549. Epub 2019 Jul 16.

PMID:
31313535
11.

Reanalysis of Clinical Exome Sequencing Data.

Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y.

N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. No abstract available.

PMID:
31216405
12.

Suppression of Cardiac Autophagy by Hyperinsulinemia in Insulin Receptor-Deficient Hearts Is Mediated by Insulin-Like Growth Factor Receptor Signaling.

Pires KM, Torres NS, Buffolo M, Gunville R, Schaaf C, Davis K, Selzman CH, Gottlieb RA, Boudina S.

Antioxid Redox Signal. 2019 Aug 20;31(6):444-457. doi: 10.1089/ars.2018.7640. Epub 2019 Jun 20.

PMID:
31088290
13.

Multi-scale modeling of early-stage morphology in solution-processed polycrystalline thin films.

Patrick DL, Schaaf C, Morehouse R, Johnson BL.

Phys Chem Chem Phys. 2019 May 8;21(18):9538-9546. doi: 10.1039/c9cp01238a.

PMID:
31020981
14.

Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.

Erger F, Schaaf CP, Netzer C.

Mol Cell Probes. 2019 Jun;45:84-88. doi: 10.1016/j.mcp.2019.03.006. Epub 2019 Mar 23.

PMID:
30914295
15.

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.

Goin-Kochel RP, Scaglia F, Schaaf CP, Berry LN, Dang D, Nowel KP, Laakman AL, Dowell LR, Minard CG, Loh A, Beaudet AL.

Glob Pediatr Health. 2019 Feb 19;6:2333794X19830696. doi: 10.1177/2333794X19830696. eCollection 2019. No abstract available.

16.

A flowing pair of particles in inertial microfluidics.

Schaaf C, Rühle F, Stark H.

Soft Matter. 2019 Feb 27;15(9):1988-1998. doi: 10.1039/c8sm02476f.

PMID:
30714602
17.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP.

Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25.

18.

Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.

Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J.

J Bone Miner Res. 2019 Jan;34(1):93-105. doi: 10.1002/jbmr.3591. Epub 2018 Oct 22.

19.

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.

Thomason MM, McCarthy J, Goin-Kochel RP, Dowell LR, Schaaf CP, Berry LN.

J Autism Dev Disord. 2018 Oct 20. doi: 10.1007/s10803-018-3775-7. [Epub ahead of print]

PMID:
30343463
20.

Schaaf-Yang syndrome overview: Report of 78 individuals.

McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP.

Am J Med Genet A. 2018 Dec;176(12):2564-2574. doi: 10.1002/ajmg.a.40650. Epub 2018 Oct 10.

21.

Classifying ecosystems with metaproperties from terrestrial laser scanner data.

Paynter I, Genest D, Saenz E, Peri F, Boucher P, Li Z, Strahler A, Schaaf C.

Methods Ecol Evol. 2018 Feb;9(2):210-222. doi: 10.1111/2041-210X.12854. Epub 2017 Aug 14.

22.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P.

Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30.

23.

CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders.

Gillentine MA, Lozoya R, Yin J, Grochowski CM, White JJ, Schaaf CP, Calarge CA.

J Affect Disord. 2018 Oct 15;239:247-252. doi: 10.1016/j.jad.2018.07.017. Epub 2018 Jul 11.

24.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X.

Am J Hum Genet. 2018 Jul 5;103(1):154-162. doi: 10.1016/j.ajhg.2018.06.005. Epub 2018 Jun 28.

25.

Targeting tumor cell plasticity by combined inhibition of NOTCH and MAPK signaling in colon cancer.

Schmidt EM, Lamprecht S, Blaj C, Schaaf C, Krebs S, Blum H, Hermeking H, Jung A, Kirchner T, Horst D.

J Exp Med. 2018 Jun 4;215(6):1693-1708. doi: 10.1084/jem.20171455. Epub 2018 May 16.

26.

An estimation of the prevalence of genomic disorders using chromosomal microarray data.

Gillentine MA, Lupo PJ, Stankiewicz P, Schaaf CP.

J Hum Genet. 2018 Jul;63(7):795-801. doi: 10.1038/s10038-018-0451-x. Epub 2018 Apr 24.

27.

Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum.

Bayat A, Bayat M, Lozoya R, Schaaf CP.

Eur J Med Genet. 2018 Oct;61(10):627-630. doi: 10.1016/j.ejmg.2018.04.007. Epub 2018 Apr 13.

PMID:
29660409
28.

The potential to characterize ecological data with terrestrial laser scanning in Harvard Forest, MA.

Orwig DA, Boucher P, Paynter I, Saenz E, Li Z, Schaaf C.

Interface Focus. 2018 Apr 6;8(2):20170044. doi: 10.1098/rsfs.2017.0044. Epub 2018 Feb 16. Review.

29.

Bounding uncertainty in volumetric geometric models for terrestrial lidar observations of ecosystems.

Paynter I, Genest D, Peri F, Schaaf C.

Interface Focus. 2018 Apr 6;8(2):20170043. doi: 10.1098/rsfs.2017.0043. Epub 2018 Feb 16.

30.

On the utilization of novel spectral laser scanning for three-dimensional classification of vegetation elements.

Li Z, Schaefer M, Strahler A, Schaaf C, Jupp D.

Interface Focus. 2018 Apr 6;8(2):20170039. doi: 10.1098/rsfs.2017.0039. Epub 2018 Feb 16.

31.

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.

McCarthy JM, McCann-Crosby BM, Rech ME, Yin J, Chen CA, Ali MA, Nguyen HN, Miller JL, Schaaf CP.

J Med Genet. 2018 May;55(5):307-315. doi: 10.1136/jmedgenet-2017-105024. Epub 2018 Mar 1.

PMID:
29496979
32.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY.

Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006.

33.

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

Martín-Hernández E, Rodríguez-García ME, Chen CA, Cotrina-Vinagre FJ, Carnicero-Rodríguez P, Bellusci M, Schaaf CP, Martínez-Azorín F.

J Hum Genet. 2018 Apr;63(4):525-528. doi: 10.1038/s10038-017-0398-3. Epub 2018 Feb 6.

PMID:
29410510
34.

Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.

Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, Cummock SE, Tao H, Pang K, Liu Z, Pereira FA, Samaco RC, Zoghbi HY, Xue M, Schaaf CP.

Am J Hum Genet. 2018 Feb 1;102(2):296-308. doi: 10.1016/j.ajhg.2018.01.005.

35.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.

Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D.

J Hum Genet. 2018 Mar;63(3):349-356. doi: 10.1038/s10038-017-0387-6. Epub 2017 Dec 26.

PMID:
29279609
36.

Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.

Gillentine MA, Yin J, Bajic A, Zhang P, Cummock S, Kim JJ, Schaaf CP.

Am J Hum Genet. 2017 Dec 7;101(6):874-887. doi: 10.1016/j.ajhg.2017.09.024. Epub 2017 Nov 9.

37.

Diagnosis and genetics of alacrima.

Adams J, Schaaf CP.

Clin Genet. 2018 Jul;94(1):54-60. doi: 10.1111/cge.13173. Epub 2018 Feb 5. Review.

PMID:
29120068
38.

Activation of IGF-1 receptors and Akt signaling by systemic hyperinsulinemia contributes to cardiac hypertrophy but does not regulate cardiac autophagy in obese diabetic mice.

Pires KM, Buffolo M, Schaaf C, David Symons J, Cox J, Abel ED, Selzman CH, Boudina S.

J Mol Cell Cardiol. 2017 Dec;113:39-50. doi: 10.1016/j.yjmcc.2017.10.001. Epub 2017 Oct 5.

39.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR.

JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4.

40.

Corrigendum: Quantitative real-time imaging of glutathione.

Jiang X, Chen J, Bajić A, Zhang C, Song X, Carroll SL, Cai ZL, Tang M, Xue M, Cheng N, Schaaf CP, Li F, MacKenzie KR, Ferreon ACM, Xia F, Wang MC, Maletić-Savatić M, Wang J.

Nat Commun. 2017 Oct 3;8:16163. doi: 10.1038/ncomms16163.

41.

Identification of novel candidate disease genes from de novo exonic copy number variants.

Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P.

Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7.

42.

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents.

Gillentine MA, White JJ, Grochowski CM, Lupski JR, Schaaf CP, Calarge CA.

J Child Adolesc Psychopharmacol. 2017 Dec;27(10):908-915. doi: 10.1089/cap.2017.0068. Epub 2017 Aug 17.

43.

Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y.

Am J Med Genet A. 2017 Oct;173(10):2680-2689. doi: 10.1002/ajmg.a.38388. Epub 2017 Aug 16.

PMID:
28815871
44.

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C.

Genet Med. 2017 Aug;19(8):962. doi: 10.1038/gim.2017.12.

PMID:
28777376
45.

Expression and mutational status of USP8 in tumors causing ectopic ACTH secretion syndrome.

Perez-Rivas LG, Oßwald A, Knösel T, Lucia K, Schaaf C, Hristov M, Fazel J, Kirchner T, Beuschlein F, Reincke M, Theodoropoulou M.

Endocr Relat Cancer. 2017 Sep;24(9):L73-L77. doi: 10.1530/ERC-17-0054. Epub 2017 Jul 14. No abstract available.

PMID:
28710116
46.

Quantitative real-time imaging of glutathione.

Jiang X, Chen J, Bajić A, Zhang C, Song X, Carroll SL, Cai ZL, Tang M, Xue M, Cheng N, Schaaf CP, Li F, MacKenzie KR, Ferreon ACM, Xia F, Wang MC, Maletić-Savatić M, Wang J.

Nat Commun. 2017 Jul 13;8:16087. doi: 10.1038/ncomms16087. Erratum in: Nat Commun. 2017 Oct 03;8:16163.

47.

The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci.

Gillentine MA, Schaaf CP, Patel A.

Am J Med Genet A. 2017 Sep;173(9):2485-2488. doi: 10.1002/ajmg.a.38328. Epub 2017 Jun 20.

48.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA.

Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006.

49.

Genetic causes of optic nerve hypoplasia.

Chen CA, Yin J, Lewis RA, Schaaf CP.

J Med Genet. 2017 Jul;54(7):441-449. doi: 10.1136/jmedgenet-2017-104626. Epub 2017 May 13. Review.

PMID:
28501829
50.

Inertial migration and axial control of deformable capsules.

Schaaf C, Stark H.

Soft Matter. 2017 May 21;13(19):3544-3555. doi: 10.1039/c7sm00339k. Epub 2017 Apr 26.

PMID:
28443874

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