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Page 1
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Al-Kateb H, Au PYB, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, Frank LM, Varvagiannis K, Koolen DA, McDonald M, Montgomery S, Moortgat S, Deprez M, Karadurmus D, Paulsen J, Reis A, Rieger M, Vasileiou G, Willing M, Shinawi M. Al-Kateb H, et al. Among authors: willing m. Clin Genet. 2024 Mar;105(3):294-301. doi: 10.1111/cge.14464. Epub 2023 Dec 3. Clin Genet. 2024. PMID: 38044714
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Claire Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. Claire Hou YC, et al. Among authors: willing mc. Genet Med. 2023 Mar;25(3):100348. doi: 10.1016/j.gim.2022.11.016. Epub 2022 Dec 7. Genet Med. 2023. PMID: 36571464 Free article.
Development and Optimization of a Subtraction-Normalized Immunocyte Profiling Signature for Prostate Cancer Active Surveillance Risk Stratification.
Van Neste L, Henao R, Wojno KJ, Signes J, DeHart J, Busta A, Marriott E, Willing M, Argentini A, Hurley PM, Korman H, Hafron J, Putzi M, Pieczonka CM, Karsh LI, Morris DS, Kassis AI, Kantoff PW. Van Neste L, et al. Among authors: willing m. J Urol. 2024 Mar;211(3):415-425. doi: 10.1097/JU.0000000000003824. Epub 2023 Dec 26. J Urol. 2024. PMID: 38147400
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL. Meester JAN, et al. Among authors: willing m. Genet Med. 2022 May;24(5):1045-1053. doi: 10.1016/j.gim.2021.12.015. Epub 2022 Jan 17. Genet Med. 2022. PMID: 35058154 Free PMC article.
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
Bruel AL, Vitobello A, Thiffault I, Manwaring L, Willing M, Agrawal PB, Bayat A, Kitzler TM, Brownstein CA, Genetti CA, Gonzalez-Heydrich J, Jayakar P, Zyskind JW, Zhu Z, Vachet C, Wilson GR, Pruniski B, Goyette AM, Duffourd Y, Thauvin-Robinet C, Philippe C, Faivre L. Bruel AL, et al. Among authors: willing m. Eur J Hum Genet. 2022 Jan;30(1):111-116. doi: 10.1038/s41431-021-00985-9. Epub 2021 Oct 28. Eur J Hum Genet. 2022. PMID: 34707297 Free PMC article.
Behavioral responses to a cyber attack in a hospital environment.
Willing M, Dresen C, Gerlitz E, Haering M, Smith M, Binnewies C, Guess T, Haverkamp U, Schinzel S. Willing M, et al. Sci Rep. 2021 Sep 29;11(1):19352. doi: 10.1038/s41598-021-98576-7. Sci Rep. 2021. PMID: 34588503 Free PMC article.
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Rosano KK, Wegner DJ, Shinawi M, Baldridge D, Bucelli RC, Dahiya S, White FV, Willing MC, McAllister W, Taft RJ, Bluske K, Buchanan A, Cole FS, Wambach JA. Rosano KK, et al. Among authors: willing mc. Am J Med Genet A. 2021 Jul;185(7):2190-2197. doi: 10.1002/ajmg.a.62219. Epub 2021 May 1. Am J Med Genet A. 2021. PMID: 33931933 Free PMC article.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW. Harris HK, et al. Among authors: willing m. Genet Med. 2021 Jun;23(6):1028-1040. doi: 10.1038/s41436-021-01114-z. Epub 2021 Mar 3. Genet Med. 2021. PMID: 33658631 Free PMC article.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H; DDD Study; Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM. den Hoed J, et al. Among authors: willing m. Am J Hum Genet. 2021 Feb 4;108(2):346-356. doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28. Am J Hum Genet. 2021. PMID: 33513338 Free PMC article.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Pres… See abstract for full author list ➔ Bryant L, et al. Among authors: willing mc. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
98 results