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Year Number of Results
1959 1
1965 1
1970 1
1971 1
1977 1
1980 1
1981 1
1985 1
1988 1
1990 2
1992 2
1993 1
1994 1
1995 2
1996 1
1997 6
1998 1
1999 2
2000 1
2001 3
2002 3
2003 4
2004 2
2006 4
2007 8
2008 11
2009 15
2010 14
2011 15
2012 16
2013 24
2014 25
2015 23
2016 20
2017 21
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2019 13
2020 18
2021 17
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2023 16
2024 18

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304 results

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Page 1
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: rush e. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Lewiecki EM. Khan AA, et al. Among authors: rush et. Osteoporos Int. 2024 Mar;35(3):431-438. doi: 10.1007/s00198-023-06844-1. Epub 2023 Nov 20. Osteoporos Int. 2024. PMID: 37982857 Free PMC article. Review.
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, Fraser W, Harmatz P, Linglart A, Munns CF, Nunes ME, Saal HM, Seefried L, Ozono K. Kishnani PS, et al. Among authors: rush et. Mol Genet Metab. 2017 Sep;122(1-2):4-17. doi: 10.1016/j.ymgme.2017.07.010. Epub 2017 Jul 25. Mol Genet Metab. 2017. PMID: 28888853 Free article. Review.
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Braverman NE, et al. Among authors: rush et. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Mol Genet Metab. 2016. PMID: 26750748 Free PMC article. Review.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Fischer-Zirnsak B, et al. Among authors: rush et. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353024 Free PMC article.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK. Chilton I, et al. Among authors: rush et. Am J Med Genet A. 2020 May;182(5):962-973. doi: 10.1002/ajmg.a.61505. Epub 2020 Feb 7. Am J Med Genet A. 2020. PMID: 32031333
304 results