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PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
Clin Genet. 2021 Feb;99(2):313-317. doi: 10.1111/cge.13877. Epub 2020 Nov 27.
Clin Genet. 2021.
PMID: 33156547
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.
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
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VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.
Lyon GJ, Marchi E, Ekstein J, Meiner V, Hirsch Y, Scher S, Yang E, De Vivo DC, Madrid R, Li Q, Wang K, Haworth A, Chilton I, Chung WK, Velinov M.
Lyon GJ, et al.
Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003715. doi: 10.1101/mcs.a003715. Print 2019 Dec.
Cold Spring Harb Mol Case Stud. 2019.
PMID: 31387860
Free PMC article.
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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christod…
See abstract for full author list ➔
Stephenson SEM, et al.
Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002.
Am J Hum Genet. 2022.
PMID: 35395208
Free PMC article.
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COVID-19's Impact on Genetics at One Medical Center in New York.
Pereira EM; Columbia University Clinical Genetics Professionals; Chung WK.
Pereira EM, et al.
Genet Med. 2020 Sep;22(9):1467-1469. doi: 10.1038/s41436-020-0857-7. Epub 2020 Jun 5.
Genet Med. 2020.
PMID: 32499605
Free PMC article.
No abstract available.
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Association Between Genetic Testing for Hereditary Breast Cancer and Contralateral Prophylactic Mastectomy Among Multiethnic Women Diagnosed With Early-Stage Breast Cancer.
Ro V, McGuinness JE, Guo B, Trivedi MS, Jones T, Chung WK, Rao R, Levinson E, Koval C, Russo D, Chilton I, Kukafka R, Crew KD.
Ro V, et al.
JCO Oncol Pract. 2022 Apr;18(4):e472-e483. doi: 10.1200/OP.21.00322. Epub 2021 Oct 27.
JCO Oncol Pract. 2022.
PMID: 34705516
Free PMC article.
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Impact of patient education videos on genetic counseling outcomes after exome sequencing.
Hernan R, Cho MT, Wilson AL, Ahimaz P, Au C, Berger SM, Guzman E, Primiano M, Shaw JE, Ross M, Tabanfar L, Chilton I, Griffin E, Ratner C, Anyane-Yeboa K, Iglesias A, Pisani L, Roohi J, Duong J, Martinez J, Appelbaum P, Klitzman R, Ottman R, Chung WK, Wynn J.
Hernan R, et al.
Patient Educ Couns. 2020 Jan;103(1):127-135. doi: 10.1016/j.pec.2019.08.018. Epub 2019 Aug 24.
Patient Educ Couns. 2020.
PMID: 31521424
Free PMC article.
Clinical Trial.
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