Zhang W, Duong H, Jongkhajornpong P, Hang DTT, Pham H, Nguyen M, Choo C, Williams D, Nguyen X, Nguyen TD, Aguirre B, Khan S, Wadehra M, Tomatsu S, Aldave AJ. Peripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization. Am J Ophthalmol. 2025 Dec; 280:154-168.

Bhattarai D, Banday AZ, Patra PK, Baral R, Chaudhry C, Girisha KM, Walter JE, Narasimhan G, Neven B, Stray-Pedersen A, Sullivan KE. The c.64?+?2?T?>?A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis. Clin Rev Allergy Immunol. 2025 Jul 16; 68(1):64.

Carbone M, Minaai M, Kittaneh M, Krausz T, Miettinen MM, Pan Hammarstr?m Q, Hammarstr?m L, Abolhassani H, Pagano I, Xu R, Novelli F, Gaudino G, Pastorino S, Sarin KY, Ripley RT, Pass HI, Schrump DS, Yang H. Clinical and Pathologic Phenotyping of Mesotheliomas Developing in Carriers of Germline BAP1 Mutations. J Thorac Oncol. 2025 Nov; 20(11):1683-1698.

Guardado M, Perez C, Campana S, Chavez Rojas B, Maga?a J, Jackson S, Samperio E, Hernandez S, Syas K, Hernandez RD, Zavala EI, Rohlfs RV. py_ped_sim: a flexible forward pedigree and genetic simulator for complex family pedigree analysis. BMC Bioinformatics. 2025 May 07; 26(1):122.

Li D, Mailand N, Ewing E, Hoffmann S, Caswell RC, Pang L, Eason J, Dou Y, Sullivan KE, Hakonarson H, Levine MA. Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis. JCI Insight. 2025 Mar 24; 10(6).

Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler AJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal PA, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel AL, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, B?zieau S, Jin T, Geha RS, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, K?ry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC. Germline mutations in a G protein identify signaling cross-talk in T cells. Science. 2024 09 20; 385(6715):eadd8947.

Serrano-Gonz?lez J, Montes-Rodr?guez I, Renta JY, Rojas R, Cadilla CL. After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. Mol Genet Genomic Med. 2024 Jul; 12(7):e2493.

Morino H, Kurashige T, Matsuda Y, Ono M, Sahara N, Miyasaka T, Soeda Y, Shimada H, Yamazaki Y, Takahashi T, Izumi Y, Ito H, Maruyama H, Higuchi M, Arihiro K, Suhara T, Takashima A, Kawakami H. Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation. Mov Disord Clin Pract. 2024 Jun; 11(6):720-727.

M?ndez I, Fern?ndez AI, Espinosa M?, Cuenca S, Lorca R, Rodr?guez JF, Tamargo M, Garc?a-Montero M, G?mez C, Vilches S, V?zquez N, ?lvarez R, Medrano C, Yotti R, Fern?ndez-Avil?s F, Bermejo J. Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males. Open Heart. 2021 09; 8(2).

Musolf AM, Simpson CL, Moiz BA, Pikielny CW, Middlebrooks CD, Mandal D, de Andrade M, Cole MD, Gaba C, Yang P, You M, Li Y, Kupert EY, Anderson MW, Schwartz AG, Pinney SM, Amos CI, Bailey-Wilson JE. Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer. Cancer Res. 2021 06 15; 81(12):3162-3173.