Li M - Search Results

1

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.

Qiao L, Welch CL, Hernan R, Wynn J, Krishnan US, Zalieckas JM, Buchmiller T, Khlevner J, De A, Farkouh-Karoleski C, Wagner AJ, Heydweiller A, Mueller AC, de Klein A, Warner BW, Maj C, Chung D, McCulley DJ, Schindel D, Potoka D, Fialkowski E, Schulz F, Kipfmuller F, Lim FY, Magielsen F, Mychaliska GB, Aspelund G, Reutter HM, Needelman H, Schnater JM, Fisher JC, Azarow K, Elfiky M, Nöthen MM, Danko ME, Li M, Kosiński P, Wijnen RMH, Cusick RA, Soffer SZ, Cochius-Den Otter SCM, Schaible T, Crombleholme T, Duron VP, Donahoe PK, Sun X, High FA, Bendixen C, Brosens E, Shen Y, Chung WK. Qiao L, et al. Among authors: li m. Am J Hum Genet. 2024 Nov 7;111(11):2362-2381. doi: 10.1016/j.ajhg.2024.08.024. Epub 2024 Sep 26. Am J Hum Genet. 2024. PMID: 39332409

2

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, … See abstract for full author list ➔ Cogné B, et al. Among authors: li mh. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827496 Free PMC article.

3

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

Budarf ML, Konkle BA, Ludlow LB, Michaud D, Li M, Yamashiro DJ, McDonald-McGinn D, Zackai EH, Driscoll DA. Budarf ML, et al. Among authors: li m. Hum Mol Genet. 1995 Apr;4(4):763-6. doi: 10.1093/hmg/4.4.763. Hum Mol Genet. 1995. PMID: 7633430 No abstract available.

4

Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA. Li M, et al. Am J Med Genet. 1996 Oct 16;65(2):101-3. doi: 10.1002/(SICI)1096-8628(19961016)65:2<101::AID-AJMG3>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8911598

5

Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.

Li MH, Eberhard M, Mudd P, Javia L, Zimmerman R, Khalek N, Zackai EH. Li MH, et al. Am J Med Genet A. 2015 Mar;167A(3):617-20. doi: 10.1002/ajmg.a.36915. Epub 2015 Jan 21. Am J Med Genet A. 2015. PMID: 25604768

6

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.

Li M, Glass J, Du X, Dubbs H, Harr MH, Falk M, Smolarek T, Hopkin RJ, Zackai E, Sheppard SE. Li M, et al. Am J Med Genet A. 2021 Aug;185(8):2374-2383. doi: 10.1002/ajmg.a.62251. Epub 2021 May 10. Am J Med Genet A. 2021. PMID: 33969943 Free PMC article. Review.

7

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID. Sheppard S, et al. Among authors: li mh. Genet Med. 2018 Dec;20(12):1663-1676. doi: 10.1038/s41436-018-0004-x. Epub 2018 Jun 15. Genet Med. 2018. PMID: 29907799 Free PMC article.

8

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Weksberg R, et al. Among authors: li m. Hum Mol Genet. 2001 Dec 15;10(26):2989-3000. doi: 10.1093/hmg/10.26.2989. Hum Mol Genet. 2001. PMID: 11751681

9

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R. Li M, et al. Am J Med Genet. 2001 Aug 1;102(2):161-8. doi: 10.1002/1096-8628(20010801)102:2<161::aid-ajmg1453>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11477610

10

Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome.

Jaquez M, Driscoll DA, Li M, Emanuel BS, Hernandez I, Jaquez F, Lembert N, Ramirez J, Matalon R. Jaquez M, et al. Among authors: li m. Am J Med Genet. 1997 May 2;70(1):6-10. doi: 10.1002/(sici)1096-8628(19970502)70:1<6::aid-ajmg2>3.0.co;2-z. Am J Med Genet. 1997. PMID: 9129733

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