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Page 1
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Am J Med Genet A. 2021 Sep;185(9):2766-2775. doi: 10.1002/ajmg.a.62387. Epub 2021 Jun 23.
Am J Med Genet A. 2021.
PMID: 34160123
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CAP, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K.
Iwata-Otsubo A, et al. Among authors: lulis l.
Hum Genet. 2024 Mar;143(3):437-453. doi: 10.1007/s00439-024-02656-3. Epub 2024 Mar 23.
Hum Genet. 2024.
PMID: 38520561
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Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation.
Reichert SL, Dechene E, Lulis L, Valverde K, Conway L, Dulik M.
Reichert SL, et al. Among authors: lulis l.
J Genet Couns. 2024 Feb;33(1):151-155. doi: 10.1002/jgc4.1853. Epub 2024 Jan 10.
J Genet Couns. 2024.
PMID: 38197609
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Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, Monaghan KG, Warner B, Franks S, Yudkoff M, Lulis L, Rhodes RH, Prasad V, Torti E, Cho MT, Shinawi M.
Chung WK, et al. Among authors: lulis l.
J Med Genet. 2015 Sep;52(9):627-35. doi: 10.1136/jmedgenet-2015-103140. Epub 2015 Jul 16.
J Med Genet. 2015.
PMID: 26185144
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Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency.
Dowsett L, Lulis L, Ficicioglu C, Cuddapah S.
Dowsett L, et al. Among authors: lulis l.
Int J Neonatal Screen. 2017 Jun;3(2):10. doi: 10.3390/ijns3020010. Epub 2017 Apr 28.
Int J Neonatal Screen. 2017.
PMID: 28748224
Free PMC article.
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