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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Beunders G, et al. Among authors: weiss mm. Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332918 Free PMC article.
First steps in exploring prospective exome sequencing of consanguineous couples.
Teeuw M, Waisfisz Q, Zwijnenburg PJ, Sistermans EA, Weiss MM, Henneman L, ten Kate LP, Cornel MC, Meijers-Heijboer H. Teeuw M, et al. Among authors: weiss mm. Eur J Med Genet. 2014 Nov-Dec;57(11-12):613-6. doi: 10.1016/j.ejmg.2014.09.003. Epub 2014 Oct 2. Eur J Med Genet. 2014. PMID: 25281896
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ. Tan-Sindhunata MB, et al. Among authors: weiss mm. Eur J Hum Genet. 2015 Sep;23(9):1151-7. doi: 10.1038/ejhg.2014.273. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537362 Free PMC article.
A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds.
Cohn-Hokke PE, Holstege H, Weiss MM, van der Flier WM, Barkhof F, Sistermans EA, Pijnenburg YA, van Swieten JC, Meijers-Heijboer H, Scheltens P. Cohn-Hokke PE, et al. Among authors: weiss mm. Am J Med Genet B Neuropsychiatr Genet. 2017 Apr;174(3):220-226. doi: 10.1002/ajmg.b.32468. Epub 2016 Jun 8. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 27277535 Free PMC article.
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.
Ozantürk A, Davis EE, Sabo A, Weiss MM, Muzny D, Dugan-Perez S, Sistermans EA, Gibbs RA, Özgül KR, Yalnızoglu D, Serdaroglu E, Dursun A, Katsanis N. Ozantürk A, et al. Among authors: weiss mm. Cold Spring Harb Mol Case Stud. 2016 Mar;2(2):a000703. doi: 10.1101/mcs.a000703. Cold Spring Harb Mol Case Stud. 2016. PMID: 27148584 Free PMC article.
Fetal fraction evaluation in non-invasive prenatal screening (NIPS).
Hestand MS, Bessem M, van Rijn P, de Menezes RX, Sie D, Bakker I, Boon EMJ, Sistermans EA, Weiss MM. Hestand MS, et al. Among authors: weiss mm. Eur J Hum Genet. 2019 Feb;27(2):198-202. doi: 10.1038/s41431-018-0271-7. Epub 2018 Sep 25. Eur J Hum Genet. 2019. PMID: 30254213 Free PMC article.
Detection limits of DNA copy number alterations in heterogeneous cell populations.
Krijgsman O, Israeli D, van Essen HF, Eijk PP, Berens ML, Mellink CH, Nieuwint AW, Weiss MM, Steenbergen RD, Meijer GA, Ylstra B. Krijgsman O, et al. Among authors: weiss mm. Cell Oncol (Dordr). 2013 Feb;36(1):27-36. doi: 10.1007/s13402-012-0108-2. Epub 2012 Nov 2. Cell Oncol (Dordr). 2013. PMID: 23117839
171 results