Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16.
Am J Hum Genet. 2023.
PMID: 37196654
Free PMC article.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V.
Angelozzi M, et al.
J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1.
J Med Genet. 2022.
PMID: 35232796
Free PMC article.
Item in Clipboard
Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center.
King C, Nielsen S, Schmanski A, Abdul-Rahman O, Fishler KP.
King C, et al.
J Genet Couns. 2022 Dec;31(6):1282-1289. doi: 10.1002/jgc4.1603. Epub 2022 Jul 4.
J Genet Couns. 2022.
PMID: 35781721
Free PMC article.
Item in Clipboard
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T.
Snijders Blok L, et al. Among authors: schmanski aa.
HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. eCollection 2023 Jan 12.
HGG Adv. 2022.
PMID: 36408368
Free PMC article.
Item in Clipboard
Research participant understanding and engagement in an institutional, self-consent biobank model.
Schmanski A, Roberts E, Coors M, Wicks SJ, Arbet J, Weber R, Crooks K, Barnes KC, Taylor MRG.
Schmanski A, et al.
J Genet Couns. 2021 Feb;30(1):257-267. doi: 10.1002/jgc4.1316. Epub 2020 Sep 20.
J Genet Couns. 2021.
PMID: 32951257
Item in Clipboard
Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors.
Maloney KA, Mizerik E, King RH, McGinnis EM, Perkowitz S, Diamonstein CJ, Schmanski AA, Saliganan S, Shipper AG, Udler MS, Guan Y, Pollin TI.
Maloney KA, et al. Among authors: schmanski aa.
J Genet Couns. 2023 Aug 3. doi: 10.1002/jgc4.1744. Online ahead of print.
J Genet Couns. 2023.
PMID: 37537905
Item in Clipboard
Cite
Cite