Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2006 2
2007 1
2008 4
2009 1
2010 2
2011 3
2012 3
2014 3
2015 2
2016 1
2017 6
2018 5
2019 2
2020 1
2021 3
2022 1
2023 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

40 results

Results by year

Filters applied: . Clear all
Page 1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, An… See abstract for full author list ➔ Hamdan FF, et al. Among authors: stein q. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. Am J Hum Genet. 2017. PMID: 29100083 Free PMC article.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study; Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Snijders Blok L, et al. Among authors: stein q. Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235985 Free PMC article.
Genetic Counseling in Pediatrics.
Stein Q, Loman R, Zuck T. Stein Q, et al. Pediatr Rev. 2018 Jul;39(7):323-331. doi: 10.1542/pir.2017-0194. Pediatr Rev. 2018. PMID: 29967077
Genesurance Counseling: Patient Perspectives.
Wagner C, Murphy L, Harkenrider J, Darilek S, Soto-Torres E, Stein Q, Hoskovec J. Wagner C, et al. Among authors: stein q. J Genet Couns. 2018 Aug;27(4):814-822. doi: 10.1007/s10897-018-0211-2. Epub 2018 Jan 19. J Genet Couns. 2018. PMID: 29350312
Genetic Counseling in Kidney Disease: A Perspective.
Stein Q, Westemeyer M, Darwish T, Pitman T, Hager M, Tabriziani H, Curry K, Collett K, Raible D, Hendricks E. Stein Q, et al. Kidney Med. 2023 May 14;5(7):100668. doi: 10.1016/j.xkme.2023.100668. eCollection 2023 Jul. Kidney Med. 2023. PMID: 37334143 Free PMC article.
The first-trimester screen in clinical practice.
Knutsen-Larson S, Flanagan JD, Van Eerden P, Stein QP. Knutsen-Larson S, et al. Among authors: stein qp. S D Med. 2009 Oct;62(10):389, 392-3. S D Med. 2009. PMID: 19856826 Review.
Genetic Counseling in Middle School Science Club: A Pilot Study.
Hutchinson A, McMillan E, Griese E, Bares V, Stein Q, Daily L. Hutchinson A, et al. Among authors: stein q. J STEM Outreach. 2019 Nov;2(1):10.15695/jstem/v2i1.19. doi: 10.15695/jstem/v2i1.19. Epub 2019 Nov 19. J STEM Outreach. 2019. PMID: 33824949 Free PMC article.
40 results