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Genomic profiling informs diagnoses and treatment in vascular anomalies.
Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1.
Nat Med. 2023.
PMID: 37264205
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.
Li D, March ME, Gutierrez-Uzquiza A, Kao C, Seiler C, Pinto E, Matsuoka LS, Battig MR, Bhoj EJ, Wenger TL, Tian L, Robinson N, Wang T, Liu Y, Weinstein BM, Swift M, Jung HM, Kaminski CN, Chiavacci R, Perkins JA, Levine MA, Sleiman PMA, Hicks PJ, Strausbaugh JT, Belasco JB, Dori Y, Hakonarson H.
Li D, et al. Among authors: matsuoka ls.
Nat Med. 2019 Jul;25(7):1116-1122. doi: 10.1038/s41591-019-0479-2. Epub 2019 Jul 1.
Nat Med. 2019.
PMID: 31263281
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NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients.
March ME, Gutierrez-Uzquiza A, Snorradottir AO, Matsuoka LS, Balvis NF, Gestsson T, Nguyen K, Sleiman PMA, Kao C, Isaksson HJ, Bragason BT, Olafsson E, Palsdottir A, Hakonarson H.
March ME, et al. Among authors: matsuoka ls.
Nat Commun. 2021 Mar 23;12(1):1827. doi: 10.1038/s41467-021-22120-4.
Nat Commun. 2021.
PMID: 33758187
Free PMC article.
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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sánchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ.
Li D, et al. Among authors: matsuoka ls.
Hum Genet. 2021 Jul;140(7):1061-1076. doi: 10.1007/s00439-021-02274-3. Epub 2021 Apr 3.
Hum Genet. 2021.
PMID: 33811546
Free PMC article.
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Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H.
Sheppard SE, et al. Among authors: matsuoka ls.
JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888.
JCI Insight. 2023.
PMID: 37154160
Free PMC article.
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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E.
Ganapathi M, et al. Among authors: matsuoka ls.
Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27.
Eur J Hum Genet. 2023.
PMID: 37500725
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