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Page 1
Clinical utility of exome sequencing in infantile heart failure.
Ritter A, Bedoukian E, Berger JH, Copenheaver D, Gray C, Krantz I, Izumi K, Juusola J, Leonard J, Lin K, Medne L, Santani A, Skraban C, Yang S, Ahrens-Nicklas RC. Ritter A, et al. Among authors: gray c. Genet Med. 2020 Feb;22(2):423-426. doi: 10.1038/s41436-019-0654-3. Epub 2019 Sep 17. Genet Med. 2020. PMID: 31527676 Free PMC article.
A Centralized Approach for Practicing Genomic Medicine.
Biswas S, Medne L, Devkota B, Bedoukian E, Berrodin D, Izumi K, Deardorff MA, Tarpinian J, Leonard J, Pyle L, Gray C, Montgomery J, Williams T, Fortunato S, Weatherly J, McEldrew D, Kaur M, Raible SE, Wilkens A, Spinner NB, Skraban C, Krantz ID. Biswas S, et al. Among authors: gray c. Pediatrics. 2020 Mar;145(3):e20190855. doi: 10.1542/peds.2019-0855. Epub 2020 Feb 26. Pediatrics. 2020. PMID: 32102930 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: gray c. 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.
MYH7 variants cause complex congenital heart disease.
Ritter A, Leonard J, Gray C, Izumi K, Levinson K, Nair DR, O'Connor M, Rossano J, Shankar V, Chowns J, Marzolf A, Owens A, Ahrens-Nicklas RC. Ritter A, et al. Among authors: gray c. Am J Med Genet A. 2022 Sep;188(9):2772-2776. doi: 10.1002/ajmg.a.62766. Epub 2022 May 2. Am J Med Genet A. 2022. PMID: 35491958
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Kayumi S, et al. Among authors: gray c. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083290 Free PMC article.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Priestley JRC, Deshwar AR, Murthy H, D'Agostino MD, Dupuis L, Gangaram B, Gray C, Jobling R, Pannia E, Platzer K, Prescott K, Redman M, Rippert AL, Rosenfeld JA, Scott DA, Wang YW, Schmederer Z, Dalal A, Sarma AS, Skraban C, Dowling JJ, Mendoza-Londono R, Slavotinek A, Bhoj EJ. Priestley JRC, et al. Among authors: gray c. Genet Med. 2023 Aug;25(8):100863. doi: 10.1016/j.gim.2023.100863. Epub 2023 Apr 28. Genet Med. 2023. PMID: 37125634
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
Keisling J, Bedoukian E, Burstein DS, Gaynor JW, Gray C, Krantz I, Izumi K, Leonard J, Lin KY, Medne L, Seymour C, Skraban C, Rippert AL, Ahrens-Nicklas RC. Keisling J, et al. Among authors: gray c. J Pediatr. 2024 Feb;265:113808. doi: 10.1016/j.jpeds.2023.113808. Epub 2023 Nov 3. J Pediatr. 2024. PMID: 37923198
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Lo E, Blair J, Yamamoto N, Diaz-Miranda MA, Bedoukian E, Gray C, Lawrence A, Dedhia K, Elden LM, Germiller JA, Kazahaya K, Sobol SE, Luo M, Krantz ID, Hartman TR. Lo E, et al. Among authors: gray c. Am J Med Genet A. 2024 May;194(5):e63530. doi: 10.1002/ajmg.a.63530. Epub 2024 Jan 10. Am J Med Genet A. 2024. PMID: 38197511
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CAP, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K. Iwata-Otsubo A, et al. Among authors: gray c. Hum Genet. 2024 Mar;143(3):437-453. doi: 10.1007/s00439-024-02656-3. Epub 2024 Mar 23. Hum Genet. 2024. PMID: 38520561
2,576 results