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

Year Number of Results
1993 3
2004 1
2005 1
2007 1
2009 2
2010 5
2011 9
2012 3
2013 5
2014 6
2015 8
2016 9
2017 20
2018 13
2019 11
2020 19
2021 21
2022 24
2023 15
2024 13
2025 1

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160 results

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Page 1
Schaaf-Yang Syndrome.
Schaaf CP, Marbach F. Schaaf CP, et al. 2021 Feb 11 [updated 2021 Nov 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2021 Feb 11 [updated 2021 Nov 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 33570896 Free Books & Documents. Review.
15q13.3 Recurrent Deletion.
van Bon BWM, Mefford HC, de Vries BBA, Schaaf CP. van Bon BWM, et al. Among authors: schaaf cp. 2010 Dec 23 [updated 2022 Nov 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2010 Dec 23 [updated 2022 Nov 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 21290787 Free Books & Documents. Review.
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. Liu P, et al. Among authors: schaaf cp. N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. N Engl J Med. 2019. PMID: 31216405 Free PMC article. No abstract available.
Morbidity and mortality in Schaaf-Yang syndrome.
Maaß JG, Brennenstuhl H, Schaaf CP. Maaß JG, et al. Among authors: schaaf cp. Ann Transl Med. 2023 Dec 20;11(12):405. doi: 10.21037/atm-23-1718. Epub 2023 Aug 28. Ann Transl Med. 2023. PMID: 38213817 Free PMC article. No abstract available.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. Kampmeier A, et al. Among authors: schaaf cp. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022. Front Cell Dev Biol. 2023. PMID: 36726590 Free PMC article.
MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.
Schubert T, Schaaf CP. Schubert T, et al. Among authors: schaaf cp. Dev Med Child Neurol. 2025 Jan;67(1):35-48. doi: 10.1111/dmcn.16018. Epub 2024 Jul 1. Dev Med Child Neurol. 2025. PMID: 38950199 Free PMC article. Review.
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. Gennarino VA, et al. Among authors: schaaf cp. Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006. Cell. 2018. PMID: 29474920 Free PMC article.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. Among authors: schaaf cp. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in rats.
Iwasaki M, Lefevre A, Althammer F, Clauss Creusot E, Łąpieś O, Petitjean H, Hilfiger L, Kerspern D, Melchior M, Küppers S, Krabichler Q, Patwell R, Kania A, Gruber T, Kirchner MK, Wimmer M, Fröhlich H, Dötsch L, Schimmer J, Herpertz SC, Ditzen B, Schaaf CP, Schönig K, Bartsch D, Gugula A, Trenk A, Blasiak A, Stern JE, Darbon P, Grinevich V, Charlet A. Iwasaki M, et al. Among authors: schaaf cp. Nat Commun. 2023 Feb 24;14(1):1066. doi: 10.1038/s41467-023-36641-7. Nat Commun. 2023. PMID: 36828816 Free PMC article.
160 results