Selected Publications

Lanvin PL*, Li D*, Conrad S, Magot A, Micaelli X, Pereon Y, Vincent M, Isidor B, Sternberg D, McCormick EM, Hakonarson H, Mercier S, Falk MJ: Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report. Neurol Clin Pract 14(3): e200228, Jun 2024 Notes: doi: 10.1212/CPJ.0000000000200228. Epub 2024 Apr 26.

Pisan E, De Luca C, Brancati F, Sanchez Russo R, Li D, Bhoj E, Wenger T, Marwaha A, Johnson N, Beneteau C, Brischoux-Boucher E, Houge G, Paulsen J, Hammer TB, Ek J, Schweitzer D, Russell BE, Dutra-Clarke M, Nelson S, Douine ED, Corona RI, Dudding T, Thomson H, Low K, Belnap N, Iascone M, Priolo M, Carli D, Mussa A, Bijlsma EK, Kopp N, Jais JP, Amiel J, Gordon CT: The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome. Proc Natl Acad Sci USA 121(12): e2317601121, Mar 2024 Notes: doi: 10.1073/pnas.2317601121. Epub 2024 Mar 11.

van der Laan L, Karimi K, Rooney K, Lauffer P, McConkey H, Caro P, Relator R, Levy MA, Bhai P, Mignot C, Keren B, Briuglia S, Sobering AK, Li D, Vissers L, Dingemans AJM, Valenzuela I, Verberne EA, Misra-Isrie M, Zwijnenburg PJG, Waisfisz Q, Alders M, Sailer S, Schaaf CP, Mannens M, Sadikovic B, van Haelst MM, Henneman P.: DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7. Genet Med 26(3): 101050, Mar 2024 Notes: doi: 10.1016/j.gim.2023.101050. Epub 2023 Dec 18.

Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, Crowley TB, O'Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Hakonarson H, Snyder KM, Sheppard SE: Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA. Am J Med Genet A 194(1): 64-69, Jan 2024 Notes: doi: 10.1002/ajmg.a.63385. Epub 2023 Sep 13.

Qu HQ, Li D, Hakonarson H.: Central conducting lymphatic anomalies. The RASopathies: Genetic Syndromes of the RAS/MAPK Pathway. Editor Katherine A. Rauen. (eds.). Springer International Publishing. 2024.

Li D, Jan de Beur S, Hou C, Ruzhnikov MR, Seeley H, Cutting GR, Sheridan MB, Levine MA.: Recurrent Small Variants in NESP55/NESPAS Associated with Broad GNAS Methylation Defects and Pseudohypoparathyroidism Type 1b. JCI Insight. 2024.

Li D*,#, Wang Q*, Bayat A*, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Perez-Jurado LA, Aznar-Lain G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Moller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, Garcia-Minaur S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tumer Z, Zackai EH, Akizu N, Song Y, Hakonarson H.: Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. J Clin Invest 134(1), 2024.

Glessner JT, Ningappa MB, Ngo KA, Zahid M, So J, Higgs BW, Sleiman PMA, Narayanan T, Ranganathan S, March M, Prasadan K, Vaccaro C, Reyes-Mugica M, Velazquez J, Salgado CM, Ebrahimkhani MR, Schmitt L, Rajasundaram D, Paul M, Pellegrino R, Gittes GK, Li D, Wang X, Billings J, Squires R, Ashokkumar C, Sharif K, Kelly D, Dhawan A, Horslen S, Lo CW, Shin D, Subramaniam S, Hakonarson H, Sindhi R: Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes. J Hepatol 79(6): 1385-1395, Dec 2023 Notes: doi: 10.1016/j.jhep.2023.07.039. Epub 2023 Aug 11.

Chowers G, Abebe-Campino G, Golan H, Vivante A, Greenberger S, Soudack M, Barkai G, Fox-Fisher I, Li D, March M, Battig MR, Hakonarson H, Adams D, Dori Y, Dagan A: Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition. Pediatr Res 94(6): 1911-1915, Dec 2023.

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 N, Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E: Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet 31(10): 1117-1124, Oct 2023 Notes: doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27.