Ben Moshe Y, Bekheirnia N, Smith RJH, Hicks J, Braun MC, Bekheirnia MR. Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic (2022). Am J Med Genet C Semin Med Genet.; 190(3):302-308.
Zhang Y, Casanova M, Shanahan MA, Sutton VR, Fox K. Obstetrical Challenges in Robinow Syndrome. Case Rep Obstet Gynecol. 2022 Jul 22; 2022: 6481517. PMID: 35909981.
Scott DA, Gofin Y, Berry AM, Adams AD. Underlying genetic etiologies of congenital diaphragmatic hernia. Prenat Diagn. 2022 Mar;42(3):373-386. doi: 10.1002/pd.6099. Epub 2022 Jan 22. PMID: 35037267; PMCID: PMC8924940.
Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, DiTroia S, VanNoy GE, O'Donnell-Luria A, Lalani SR, Graf WD, Liu P, Vossaert L. Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing. Prenat Diagn. 2022 May;42(6):686-696. doi: 10.1002/pd.6146. Epub 2022 Apr 18. PMID: 35416301; PMCID: PMC10014115.
Tallis E, Karsenty CL, Grimes AB, Karam LB, Elsea SH, Sutton VR, Rawls- Castillo BL, Liu N, Soler-Alfonso C. Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment. JIMD Rep. 2022 May 22;63(4):309-315. doi: 10.1002/jmd2.12304. PMID: 35822097; PMCID: PMC9259396.
Crovetti B, Maktabi MA, Erfani H, Panchalee T, Wang Q, Vossaert L, Van den Veyver I. Circulating trophoblast numbers as a potential marker for pregnancy complications. Prenat Diagn. 2022 Aug;42(9):1182-1189. doi: 10.1002/pd.6202. Epub 2022 Jul 2. PMID: 35765264; PMCID: PMC9710861.
Kurtz KJ, Tallis E, Marcogliese AN, Pulivarthi RH, Potocki L, Stevens AM. Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein- Taybi Syndrome. Pediatr Hematol Oncol. 2022 Nov;39(8):747-754. doi: 10.1080/08880018.2022.2049938. Epub 2022 Mar 11. PMID: 35275800.
Tallis E, Scollon S, Ritter DI, Plon SE. Evolution of germline TP53 variant classification in children with cancer. Cancer Genet. 2022 Jun;264-265:29-32. doi: 10.1016/j.cancergen.2022.02.011. Epub 2022 Mar 3. PMID: 35306447; PMCID: PMC9133135.
Lucari B, Tallis E, Sutton VR, Porea T. Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma. Pediatr Hematol Oncol. 2022 Sep 20:1-7. doi: 10.1080/08880018.2022.2124006. Epub ahead of print. PMID: 36125320.
Rosenfeld JA, Eichler EE, Earl RK, Scott DA. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 Apr;43(4):461-470. doi: 10.1002/humu.24332. Epub 2022 Jan 30. PMID: 35094443; PMCID: PMC8960338.
Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 2022 Sep;188(9):2718-2723. doi: 10.1002/ajmg.a.62889. Epub 2022 Jul 7. PMID: 35796094; PMCID: PMC9378577.
Gofin Y, Scott DA. Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia. J Pediatr. 2022 Sep;248:13-14. doi: 10.1016/j.jpeds.2022.05.059. Epub 2022 Jun 3. PMID: 35667445; PMCID: PMC9912172.
Kumar RD, Meng L, Liu P, Miyake CY, Worley KC, Bi W, Lalani SR. Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. Am J Med Genet A. 2022 Nov;188(11):3184-3190. doi: 10.1002/ajmg.a.62967. Epub 2022 Sep 6. PMID: 36065636; PMCID: PMC9703357.
Kumar RD, Tosur M, Lalani SR, Mahoney DH Jr, Bertuch AA. The germline p53 activation syndrome: A new patient further refines the clinical phenotype. Am J Med Genet A. 2022 Jul;188(7):2204-2208. doi: 10.1002/ajmg.a.62749. Epub 2022 Apr 1. PMID: 35362179.
Weisz-Hubshman M, Egunsula AT, Dawson B, Castellon A, Jiang MM, Chen-Evenson Y, Zhiyin Y, Lee B, Bae Y. DDRGK1 is required for the proper development and maintenance of the growth plate cartilage. Hum Mol Genet. 2022 Aug 23;31(16):2820-2830. doi: 10.1093/hmg/ddac078. PMID: 35377455; PMCID: PMC9402238.
Machol K, Polak U, Weisz-Hubshman M, Song IW, Chen S, Jiang MM, Chen-Evenson Y, Weis MAE, Keene DR, Eyre DR, Lee BH. Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome. Hum Mol Genet. 2022 Apr 22;31(8):1325-1335. doi: 10.1093/hmg/ddab323. PMID: 34740257; PMCID: PMC9029232.
Lay E, Azamian MS, Denfield SW, Dreyer W, Spinner JA, Kearney D, Zhang L, Worley KC, Bi W, Lalani SR. LMOD2-related dilated cardiomyopathy presenting in late infancy. Am J Med Genet A. 2022 Jun;188(6):1858-1862. doi: 10.1002/ajmg.a.62699. Epub 2022 Feb 21. PMID: 35188328; PMCID: PMC9117498.
Miyake CY, Lay EJ, Beach CM, Ceresnak SR, Delauz CM, Howard TS, Janson CM, Jardine K, Kannankeril PJ, Kava M, Kim JJ, Liberman L, Macicek SL, Pham TD, Robertson T, Valdes SO, Webster G, Stephens SB, Milewicz DM, Azamian M, Ehsan SA, Houck KM, Soler-Alfonso C, Glinton KE, Tosur M, Li N, Xu W, Lalani SR, Zhang L. Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises. Heart Rhythm. 2022 Oct;19(10):1673-1681. doi: 10.1016/j.hrthm.2022.05.009. Epub 2022 May 11. PMID: 35568137.
Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, Bacino C, Scaglia F, Elsea SH. NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 Jun;136(2):101-110. doi: 10.1016/j.ymgme.2022.04.003. Epub 2022 Apr 18. PMID: 35637064; PMCID: PMC9893913.
Manor J, Calame DG, Gijavanekar C, Tran A, Fatih JM, Lalani SR, Mizerik E, Parnes M, Mehta VP, Adesina AM, Lupski JR, Scaglia F, Elsea SH. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 Jun 3;145(5):e36-e40. doi: 10.1093/brain/awac065. PMID: 35231119.
Odom J, Amin H, Gijavanekar C, Elsea SH, Kralik S, Chinen J, Lin Y, Yates AMM, Mizerik E, Potocki L, Scaglia F. A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Am J Med Genet A. 2022 Jan;188(1):259-268. doi: 10.1002/ajmg.a.62482. Epub 2021 Sep 12. PMID: 34510712.
Yuan B, Schulze KV, Assia Batzir N, Sinson J, Dai H, Zhu W, Bocanegra F, Fong CT, Holder J, Nguyen J, Schaaf CP, Yang Y, Bi W, Eng C, Shaw C, Lupski JR, Liu P. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Med. 2022 Sep 30;14(1):113. doi: 10.1186/s13073-022-01113-y. PMID: 36180924; PMCID: PMC9526336.
Li VL, He Y, Contrepois K, Liu H, Kim JT, Wiggenhorn AL, Tanzo JT, Tung AS, Lyu X, Zushin PH, Jansen RS, Michael B, Loh KY, Yang AC, Carl CS, Voldstedlund CT, Wei W, Terrell SM, Moeller BC, Arthur RM, Wallis GA, van de Wetering K, Stahl A, Kiens B, Richter EA, Banik SM, Snyder MP, Xu Y, Long JZ. An exercise- inducible metabolite that suppresses feeding and obesity. Nature. 2022 Jun;606(7915):785-790. doi: 10.1038/s41586-022-04828-5. Epub 2022 Jun 15. PMID: 35705806; PMCID: PMC9767481.
Zemet R, Van den Veyver IB, Stankiewicz P. Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges. Prenat Diagn. 2022 Jun;42(7):811-821. doi: 10.1002/pd.6144. Epub 2022 Apr 14. PMID: 35394072; PMCID: PMC9995893.
Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22. PMID: 36135330; PMCID: PMC9669235.
Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, Shannon NL, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29. PMID: 35904974; PMCID: PMC9474674.
Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 2022 Sep;188(9):2718-2723. doi: 10.1002/ajmg.a.62889. Epub 2022 Jul 7. PMID: 35796094; PMCID: PMC9378577.