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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

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160 results

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Page 1
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.
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; 1993–2024. 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; 1993–2024. 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; 1993–2024. 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; 1993–2024. PMID: 21290787 Free Books & Documents. Review.
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. 2024 Jul 1. doi: 10.1111/dmcn.16018. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 38950199 Review.
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.
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.
Diagnosis and genetics of alacrima.
Adams J, Schaaf CP. Adams J, et al. Among authors: schaaf cp. Clin Genet. 2018 Jul;94(1):54-60. doi: 10.1111/cge.13173. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 29120068 Review.
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.
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Meng L, et al. Among authors: schaaf cp. JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4. JAMA Pediatr. 2017. PMID: 28973083 Free PMC article.
160 results