Below are the most recent publications written about "Craniofacial Abnormalities" by people in Profiles.
-
Isch EL, Sarikonda A, Sambangi A, Carreras A, Sircar A, Self DM, Habarth-Morales TE, Caterson EJ, Aycart M. Evaluating the Efficacy of Large Language Models in CPT Coding for Craniofacial Surgery: A Comparative Analysis. J Craniofac Surg. 2025 05 01; 36(3):831-835.
-
Wu M, Vossough A, Massenburg BB, Romeo DJ, Ng JJ, Napoli JA, Swanson JW, Bartlett SP, Taylor JA. Mystery of the Muenke midface: spheno-occipital synchondrosis fusion and craniofacial skeletal patterns. Childs Nerv Syst. 2024 11; 40(11):3683-3691.
-
Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF. A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2. Mol Genet Genomic Med. 2020 03; 8(3):e1078.
-
Philips R, Topf MC, Graf A, Krein H, Heffelfinger R, Luginbuhl A, Curry J. Orbital outcomes after orbit-sparing surgery and free flap reconstruction. Oral Oncol. 2019 11; 98:78-84.
-
Russell BE, Rigueur D, Weaver KN, Sund K, Basil JS, Hufnagel RB, Prows CA, Oestreich A, Al-Gazali L, Hopkin RJ, Saal HM, Lyons K, Dauber A. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Mol Genet Genomic Med. 2019 11; 7(11):e969.
-
Okur V, Nees S, Chung WK, Krishnan U. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. Am J Med Genet A. 2018 08; 176(8):1773-1777.
-
Lumaka A, Cosemans N, Lulebo Mampasi A, Mubungu G, Mvuama N, Lubala T, Mbuyi-Musanzayi S, Breckpot J, Holvoet M, de Ravel T, Van Buggenhout G, Peeters H, Donnai D, Mutesa L, Verloes A, Lukusa Tshilobo P, Devriendt K. Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator. Clin Genet. 2017 Aug; 92(2):166-171.
-
Averill LW, Kandula VV, Akyol Y, Epelman M. Fetal Brain Magnetic Resonance Imaging Findings In Congenital Cytomegalovirus Infection With Postnatal Imaging Correlation. Semin Ultrasound CT MR. 2015 Dec; 36(6):476-86.
-
Crowgey EL, Stabley DL, Chen C, Huang H, Robbins KM, Polson SW, Sol-Church K, Wu CH. An integrated approach for analyzing clinical genomic variant data from next-generation sequencing. J Biomol Tech. 2015 Apr; 26(1):19-28.
-
Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. Am J Hum Genet. 2015 Jan 08; 96(1):121-35.