Selected Publications

Liu M, Smith CL, Biko DM, Li D, Pinto E, O'Connor N, Skraban C, Zackai EH, Hakonarson H, Dori Y, Sheppard SE.: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. Eur J Hum Genet 30(9): 1022-1028, Sep 2022.

Campbell IM, Crowley TB, Jobaliya C, Bailey A, McGinn DE, Gaiser K, Bassett A, Gur RE, Morrow B, Emanuel BS, Franco AT, French D, Zackai EH, McDonald-McGinn DM, Lambert MP.: Platelet findings in 22q11.2 Deletion Syndrome correlate with disease manifestations but do not correlate with GPIb surface expression. Clin Genet Page: Online ahead of print. Sep 2022.

Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA.: Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med Page: Online ahead of print. Sep 2022.

Li D, Strong A, Hou C, Downes H, Pritchard AB, Mazzeo P, Zackai EH, Conlin LK, Hakonarson H.: Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism. Mol Cytogenet 15(1): 33, Aug 2022.

Kotcher RE, Chait DB, Heckert JM, Crowley TB, Forde KA, Ahuja NK, Mascarenhas MR, Emanuel BS, Zackai EH, McDonald-McGinn DM, Reynolds JC.: Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood. J Pediatr Gastroenterol Nutr 75(2): e8-e14, Aug 2022.

Katz OL, Wild KT, McEldrew D, Kaur M, Raible S, Skraban CM, Zackai EH, Medne L, Izumi K, Fortunato S, Weatherly J, Hartman T, Deppen P, Blair J, Devkota B, Schindler E, Hedrick HL, Peranteau W, Krantz ID.: Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases. J Pediatr 246: 251-265, Jul 2022.

Campbell IM, Crowley TB, Keena B, Donoghue S, McManus ML, Zackai EH.: The experience of one pediatric geneticist with telemedicine-based clinical diagnosis. Am J Med Genet A Page: Online ahead of print. Jul 2022.

Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE.: Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care. Pediatrics 150(1): e2021054520, Jul 2022.

McGovern PE, Crowley TB, Zackai EH, Burrows E, McDonald-McGinn DM, Nance ML.: Surgical insights and management in patients with the 22q11.2 deletion syndrome. Pediatr Surg Int 38(6): 899-905, Jun 2022.

Wild KT, Schindewolf E, Hedrick HL, Rintoul NE, Hartman T, Gebb J, Moldenhauer JS, Zackai EH, Krantz ID.: The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review. J Pediatr Page: Online ahead of print. Apr 2022.