2022
Underlying genetic etiologies of congenital diaphragmatic hernia.
Scott DA, Gofin Y, Berry AM, Adams AD. Prenat Diagn. 2022 Mar;42(3):373-386. doi: 10.1002/pd.6099. Epub 2022 Jan 22. PMID: 35037267; PMCID: PMC8924940.
Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing.
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. Prenat Diagn. 2022 May;42(6):686-696. doi: 10.1002/pd.6146. Epub 2022 Apr 18. PMID: 35416301; PMCID: PMC10014115.
Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.
Tallis E, Karsenty CL, Grimes AB, Karam LB, Elsea SH, Sutton VR, Rawls- Castillo BL, Liu N, Soler-Alfonso C. JIMD Rep. 2022 May 22;63(4):309-315. doi: 10.1002/jmd2.12304. PMID: 35822097; PMCID: PMC9259396.
Circulating trophoblast numbers as a potential marker for pregnancy complications.
Crovetti B, Maktabi MA, Erfani H, Panchalee T, Wang Q, Vossaert L, Van den Veyver I. Prenat Diagn. 2022 Aug;42(9):1182-1189. doi: 10.1002/pd.6202. Epub 2022 Jul 2. PMID: 35765264; PMCID: PMC9710861.
Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein- Taybi Syndrome.
Kurtz KJ, Tallis E, Marcogliese AN, Pulivarthi RH, Potocki L, Stevens AM. Pediatr Hematol Oncol. 2022 Nov;39(8):747-754. doi: 10.1080/08880018.2022.2049938. Epub 2022 Mar 11. PMID: 35275800.
Evolution of germline TP53 variant classification in children with cancer.
Tallis E, Scollon S, Ritter DI, Plon SE. Cancer Genet. 2022 Jun;264-265:29-32. doi: 10.1016/j.cancergen.2022.02.011. Epub 2022 Mar 3. PMID: 35306447; PMCID: PMC9133135.
Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma.
Lucari B, Tallis E, Sutton VR, Porea T. Pediatr Hematol Oncol. 2022 Sep 20:1-7. doi: 10.1080/08880018.2022.2124006. Epub ahead of print. PMID: 36125320.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Rosenfeld JA, Eichler EE, Earl RK, Scott DA. Hum Mutat. 2022 Apr;43(4):461-470. doi: 10.1002/humu.24332. Epub 2022 Jan 30. PMID: 35094443; PMCID: PMC8960338.
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. 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.
Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia.
Gofin Y, Scott DA. J Pediatr. 2022 Sep;248:13-14. doi: 10.1016/j.jpeds.2022.05.059. Epub 2022 Jun 3. PMID: 35667445; PMCID: PMC9912172.
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Kumar RD, Meng L, Liu P, Miyake CY, Worley KC, Bi W, Lalani SR. 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.
The germline p53 activation syndrome: A new patient further refines the clinical phenotype.
Kumar RD, Tosur M, Lalani SR, Mahoney DH Jr, Bertuch AA. Am J Med Genet A. 2022 Jul;188(7):2204-2208. doi: 10.1002/ajmg.a.62749. Epub 2022 Apr 1. PMID: 35362179.
DDRGK1 is required for the proper development and maintenance of the growth plate cartilage.
Weisz-Hubshman M, Egunsula AT, Dawson B, Castellon A, Jiang MM, Chen-Evenson Y, Zhiyin Y, Lee B, Bae Y. Hum Mol Genet. 2022 Aug 23;31(16):2820-2830. doi: 10.1093/hmg/ddac078. PMID: 35377455; PMCID: PMC9402238.
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.
Machol K, Polak U, Weisz-Hubshman M, Song IW, Chen S, Jiang MM, Chen-Evenson Y, Weis MAE, Keene DR, Eyre DR, Lee BH. Hum Mol Genet. 2022 Apr 22;31(8):1325-1335. doi: 10.1093/hmg/ddab323. PMID: 34740257; PMCID: PMC9029232.
LMOD2-related dilated cardiomyopathy presenting in late infancy.
Lay E, Azamian MS, Denfield SW, Dreyer W, Spinner JA, Kearney D, Zhang L, Worley KC, Bi W, Lalani SR. 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.
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
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. Heart Rhythm. 2022 Oct;19(10):1673-1681. doi: 10.1016/j.hrthm.2022.05.009. Epub 2022 May 11. PMID: 35568137.
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, Bacino C, Scaglia F, Elsea SH. 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.
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
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. Brain. 2022 Jun 3;145(5):e36-e40. doi: 10.1093/brain/awac065. PMID: 35231119.
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Odom J, Amin H, Gijavanekar C, Elsea SH, Kralik S, Chinen J, Lin Y, Yates AMM, Mizerik E, Potocki L, Scaglia F. Am J Med Genet A. 2022 Jan;188(1):259-268. doi: 10.1002/ajmg.a.62482. Epub 2021 Sep 12. PMID: 34510712.
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
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. Genome Med. 2022 Sep 30;14(1):113. doi: 10.1186/s13073-022-01113-y. PMID: 36180924; PMCID: PMC9526336.
An exercise- inducible metabolite that suppresses feeding and obesity.
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. Nature. 2022 Jun;606(7915):785-790. doi: 10.1038/s41586-022-04828-5. Epub 2022 Jun 15. PMID: 35705806; PMCID: PMC9767481.
Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges.
Zemet R, Van den Veyver IB, Stankiewicz P. Prenat Diagn. 2022 Jun;42(7):811-821. doi: 10.1002/pd.6144. Epub 2022 Apr 14. PMID: 35394072; PMCID: PMC9995893.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
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. 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.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
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. 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.
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA. 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.
2021
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell- based NIPT.
Zhuo X, Wang Q, Vossaert L, Salman R, Kim A, Van den Veyver I, Breman A, Beaudet A. PLoS One. 2021 Apr 15;16(4):e0249695. doi: 10.1371/journal.pone.0249695. PMID: 33857205; PMCID: PMC8049273.
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing.
Kumar RD, Burrage LC, Bartos J, Ali S, Schmitt E, Nagamani SCS, LeMons C. Mol Genet Metab Rep. 2021 Jan 8;26:100706. doi: 10.1016/j.ymgmr.2020.100706. PMID: 33489762; PMCID: PMC7809430.
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
Gofin Y, Mackay LP, Machol K, Keswani S, Potocki L, Di Gregorio E, Naretto VG, Brusco A, Hernandez-Garcia A, Scott DA. Am J Med Genet A. 2021 Mar;185(3):836-840. doi: 10.1002/ajmg.a.62066. Epub 2021 Jan 14. PMID: 33443296; PMCID: PMC8011624.
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. NPJ Genom Med. 2021 Dec 7;6(1):104. doi: 10.1038/s41525-021-00268-8. PMID: 34876591; PMCID: PMC8651650.
ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models.
Manor J, Chung H, Bhagwat PK, Wangler MF. J Neurosci Res. 2021 Dec;99(12):3170-3181. doi: 10.1002/jnr.24953. Epub 2021 Oct 29. PMID: 34716609; PMCID: PMC9665428.
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.
Manor J, Dinu D, Azamian MS, Bi W, Darilek S, Lalani SR. Am J Med Genet A. 2021 Oct;185(10):2903-2912. doi: 10.1002/ajmg.a.62368. Epub 2021 Jun 1. PMID: 34061437; PMCID: PMC9082733.
GARS1-Associated Axonal Neuropathy.
Markovitz R, Ghosh R, Lotze T, Potocki L. 2006 Nov 8 [updated 2021 Jul 22]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301420.
Expansion of the clinical phenotype of GALE deficiency.
Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Am J Med Genet A. 2021 Oct;185(10):3118-3121. doi: 10.1002/ajmg.a.62384. Epub 2021 Jun 22. PMID: 34159722.
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.
Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N. Front Cell Dev Biol. 2021 Mar 3;9:631428. doi: 10.3389/fcell.2021.631428. PMID: 33748114; PMCID: PMC7965969.
Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management.
Odom JD, Sutton VR. Clin Chem. 2021 Nov 26;67(12):1606-1617. doi: 10.1093/clinchem/hvab184. PMID: 34633032.
Clinical and genomic characterization of 8p cytogenomic disorders.
Okur V, Hamm L, Kavus H, Mebane C, Robinson S, Levy B, Chung WK. Genet Med. 2021 Dec;23(12):2342-2351. doi: 10.1038/s41436-021-01270-2. Epub 2021 Jul 19. PMID: 34282301.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz Ö, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H. Genet Med. 2021 Sep;23(9):1715-1725. doi: 10.1038/s41436-021-01196-9. Epub 2021 May 30. PMID: 34054129; PMCID: PMC8460429.
Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1.
O'Shea SA, Hickman RA, Cortes E, Vonsattel JP, Fahn S, Okur V, Alcalay RN, Chung WK. Mov Disord. 2021 Nov;36(11):2681-2687. doi: 10.1002/mds.28756. Epub 2021 Aug 20. PMID: 34415653.
Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3.
Wu CW, Sasa G, Salih A, Nicholas S, Vogel TP, Cahill G, Kuehn HS, Rosenzweig SD, Zhou Q, Chinn IK, Yuan B. J Clin Immunol. 2021 Aug;41(6):1420-1423. doi: 10.1007/s10875-021-01048-w. Epub 2021 May 25. PMID: 34032947.
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Liu N, Xiao J, Gijavanekar C, Pappan KL, Glinton KE, Shayota BJ, Kennedy AD, Sun Q, Sutton VR, Elsea SH. JAMA Netw Open. 2021 Jul 1;4(7):e2114155. doi: 10.1001/jamanetworkopen.2021.14155. PMID: 34251446; PMCID: PMC8276086.
Clinical characterization of individuals with the distal 1q21.1 microdeletion.
Edwards SD, Schulze KV, Rosenfeld JA, Westerfield LE, Gerard A, Yuan B, Grigorenko EL, Posey JE, Bi W, Liu P. Am J Med Genet A. 2021 May;185(5):1388-1398. doi: 10.1002/ajmg.a.62104. Epub 2021 Feb 11. PMID: 33576134.
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.
Domogala DD, Gambin T, Zemet R, Wu CW, Schulze KV, Yang Y, Wilson TA, Machol I, Liu P, Stankiewicz P. Hum Genomics. 2021 Dec 20;15(1):72. doi: 10.1186/s40246-021-00369-6. PMID: 34930489; PMCID: PMC8686574.
Overview and recent developments in cell-based noninvasive prenatal testing.
Vossaert L, Chakchouk I, Zemet R, Van den Veyver IB. Prenat Diagn. 2021 Sep;41(10):1202-1214. doi: 10.1002/pd.5957. Epub 2021 May 18. PMID: 33974713; PMCID: PMC9355411.
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Lupski JR, Posey JE, Chen S, Gong C, Wu N. J Genet Genomics. 2021 May 20;48(5):396-402. doi: 10.1016/j.jgg.2021.02.008. Epub 2021 Mar 22. PMID: 34006472.
Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.
Nishii R, Baskin-Doerfler R, Yang W, Oak N, Zhao X, Yang W, Hoshitsuki K, Bloom M, Verbist K, Burns M, Li Z, Lin TN, Qian M, Moriyama T, Gastier-Foster JM, Rabin KR, Raetz E, Mullighan C, Pui CH, Yeoh AE, Zhang J, Metzger ML, Klco JM, Hunger SP, Newman S, Wu G, Loh ML, Nichols KE, Yang JJ. Blood. 2021 Jan 21;137(3):364-373. doi: 10.1182/blood.2020006164. PMID: 32693409; PMCID: PMC7819760.
2020
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Schaaf CP, Betancur C, (...) Chen CA, et al. Nat Rev Genet. 2020 Jun; 21(6): 367-376. PMID: 32317787
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Rech ME, McCarthy JM, Chen CA, et al. Am J Med Genet A. 2020 Jun; 182(6): 1426-1437. PMID: 32275123
Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
Chen CA, Pal R, Yin J, et al. Hum Mol Genet. 2020 Feb 1; 29(3): 459-470. PMID: 31943016
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Gu S, Chen CA, Rosenfeld JA, et al. Hum Mutat. 2020 Mar; 41(3): 632-640. PMID: 31696996
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
Birjiniuk A, Glinton KE, Villafranco N, Boyer S, Laufman J, Mizerik E, Scott D, Elsea SH, Galambos C, Varghese NP, Scaglia F. Am J Med Genet A. 2020 Apr; 182(4): 755-761. PMID: 31970900
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, (...), Larson AA. Mol Genet Metab. 2020 May; 130(1): 58-64. PMID: 32173240
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.
Slater B, Glinton K, Dai H, Lay E, Karaviti L, Mizerik E, Murali CN, Lalani SR, Bacino CA, Rossetti LZ. Am J Med Genet A. 2020 Nov;182(11):2751-2754. doi: 10.1002/ajmg.a.61842. Epub 2020 Sep 4. PMID: 32885560.
Overgrowth Syndromes-Evaluation, Diagnosis, and Management.
Manor J, Lalani SR. Front Pediatr. 2020 Oct 30;8:574857. doi: 10.3389/fped.2020.574857. Erratum in: Front Pediatr. 2020 Dec 23;8:624141. PMID: 33194904; PMCID: PMC7661798.
Corrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management.
Manor J, Lalani SR. Front Pediatr. 2020 Dec 23;8:624141. doi: 10.3389/fped.2020.624141. Erratum for: Front Pediatr. 2020 Oct 30;8:574857. PMID: 33425822; PMCID: PMC7787193.
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N, Glinton KE, Rossetti L, Manor J, Chen W, Lamb DJ, Braun MC, Bekheirnia MR. Kidney360. 2020 Oct 30;2(1):90-104. doi: 10.34067/KID.0002272020. PMID: 35368817; PMCID: PMC8785738.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L. Am J Med Genet A. 2020 May;182(5):1167-1176. doi: 10.1002/ajmg.a.61544. Epub 2020 Mar 17. PMID: 32181591; PMCID: PMC8297662.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK. Am J Med Genet A. 2020 May;182(5):962-973. doi: 10.1002/ajmg.a.61505. Epub 2020 Feb 7. PMID: 32031333.
The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell-based noninvasive prenatal testing.
Panchalee T, Vossaert L, Wang Q, Crovetti BR, McCombs AK, Wapner RJ, Van den Veyver IB, Beaudet AL. Prenat Diagn. 2020 Oct;40(11):1383-1389. doi: 10.1002/pd.5755. Epub 2020 Aug 5. PMID: 32452065; PMCID: PMC7688572.
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L, Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT, Pappan KL, Sutton VR, Sun Q, Elsea SH. Mol Genet Metab. 2020 Sep-Oct;131(1-2):147-154. doi: 10.1016/j.ymgme.2020.07.013. Epub 2020 Aug 5. PMID: 32828637; PMCID: PMC8630378.
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR. Bone. 2020 Apr;133:115219. doi: 10.1016/j.bone.2019.115219. Epub 2020 Jan 7. PMID: 31923704.
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo JT, Glinton KE, Liu N, Xiao J, Yang Y, Reid Sutton V, Elsea SH. Genet Med. 2020 Sep;22(9):1560-1566. doi: 10.1038/s41436-020-0827-0. Epub 2020 May 22. PMID: 32439973; PMCID: PMC7483344.
Biases in arginine codon usage correlate with genetic disease risk.
Schulze KV, Hanchard NA, Wangler MF. Genet Med. 2020 Aug;22(8):1407-1412. doi: 10.1038/s41436-020-0813-6. Epub 2020 May 6. PMID: 32371920.
2019
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
Pillai NR, Yubero D, Shayota BJ, Oyarzábal A, Ghosh R, Sun Q, Azamian MS, Arjona C, Brandi N, Palau F, Lalani SR, Artuch R, García-Cazorla A, Scott DA. Am J Med Genet A. 2019 Dec; 179(12): 2459-2468. PMID: 31520464.
A comprehensive review of the sinuvertebral nerve with clinical applications.
Shayota B, Wong TL, Fru D, David G, Iwanaga J, Loukas M, Tubbs RS. Anat Cell Biol. 2019 Jun; 52(2): 128-133. PMID: 31338228
Characterization of the renal phenotype in RMND1-related mitochondrial disease.
Shayota BJ, Le NT, Bekheirnia N, Rosenfeld JA, Goldstein AC, Moritz M, Bartholomew DW, Pastore MT, Xia F, Eng C, Yang Y, Lamb DJ, Scaglia F, Braun MC, Bekheirnia MR. Mol Genet Genomic Med. 2019 Dec; 7(12): e973. PMID: 31568715
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Pillai NR, Stroup BM, Poliner A, Rossetti L, Rawls B, Shayota BJ, Soler-Alfonso C, Tunuguntala HP, Goss J, Craigen W, Scaglia F, Sutton VR, Himes RW, Burrage LC. Mol Genet Metab. 2019 Dec; 128(4): 431-443. PMID: 31757659
Alpha-synuclein is a DNA binding protein that modulates DNA repair with implications for Lewy body disorders.
Schaser AJ, Osterberg VR, Dent SE, Stackhouse TL, Wakeham CM, Boutros SW, Weston LJ, Owen N, Weissman TA, Luna E, Raber J, Luk KC, McCullough AK, Woltjer RL, Unni VK. Sci Rep. 2019 Jul 29; 9(1): 10919. PMID: 31358782.
Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions.
Glinton KE, Elsea SH. Front Psychiatry. 2019 Sep 10; 10: 647. PMID: 31551836
Reanalysis of Clinical Exome Sequencing Data.
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, (...), Yang Y. N Engl J Med. 2019 Jun 20; 380(25): 2478-2480. PMID: 31216405
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, (...), Lyon GJ. Hum Mol Genet. 2019 Sep 1; 28(17): 2900-2919. PMID 32027362
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, (...); Deciphering Developmental Disorders Study, Wang K, Timmers HTM, Lyon GJ. Hum Mutat. 2019. PMID: 31646703
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.
Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF. Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a003673. doi: 10.1101/mcs.a003673. Print 2019 Jun. PubMed PMID: 30850373; PubMed Central PMCID: PMC6549558.
Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.
Mohan KN, Cao Y, Pham J, Cheung SW, Hoffner L, Ou ZZ, Surti U, Cook EH, Beaudet AL. J Hum Genet. 2019 Mar; 64(3): 253-255. doi: 10.1038/s10038-018-0543-7. Epub 2018 Dec 12. PMID: 30542208.
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W. Genome Med. 2019 May 17; 11(1): 30. doi: 10.1186/s13073-019-0639-5. PubMed PMID: 31101064.
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.
Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR; Members of the Brittle Bone Disorders Consortium*, Nagamani SCS. Genet Med. 2019 Feb; 21(2): 275-283. doi: 10.1038/s41436-018-0045-1. Epub 2018 Jul 4. PubMed PMID: 29970925; PubMed Central PMCID: PMC6320321.
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.
Pillai NR, Marafi D, Monteiro SA, Parnes M, Chandy BM, Patel A, Bacino CA, Breman AM, Burrage LC. Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly. Eur J Med Genet. 2019 Jun;62(6):103531. doi: 10.1016/j.ejmg.2018.08.012. Epub 2018 Aug 22. PubMed PMID: 30142436.
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8. PubMed PMID: 31069960; PubMed Central PMCID: PMC6557668.
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.
Shayota BJ, Soler-Alfonso C, Bekheirnia MR, Mizerik E, Boyer SW, Xiao R, Yang Y, Elsea SH, Scaglia F. Am J Med Genet A. 2019 May;179(5):803-807. doi: 10.1002/ajmg.a.61074. Epub 2019 Mar 7. PubMed PMID: 30848071.
Behavior and sleep disturbance in Smith-Magenis syndrome.
Shayota BJ, Elsea SH. Curr Opin Psychiatry. 2019 Mar;32(2):73-78. PubMed PMID: 30557269
L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency.
Soler-Alfonso C, Pillai N, Cooney E, Mysore KR, Boyer S, Scaglia F. Mol Genet Metab Rep. 2019 Jan 25;19:100453. doi: 10.1016/j.ymgmr.2019.100453. eCollection 2019 Jun. PubMed PMID: 30740308; PubMed Central PMCID: PMC6355510.
Genetic architecture of laterality defects revealed by whole exome sequencing.
Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW. Eur J Hum Genet. 2019 Apr;27(4):563-573. doi: 10.1038/s41431-018-0307-z. Epub 2019 Jan 8. PMID: 30622330; PMCID: PMC6460585.
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.
Vossaert L, Wang Q, Salman R, McCombs AK, Patel V, Qu C, Mancini MA, Edwards DP, Malovannaya A, Liu P, Shaw CA, Levy B, Wapner RJ, Bi W, Breman AM, Van den Veyver IB, Beaudet AL. Am J Hum Genet. 2019 Dec 5;105(6):1262-1273. doi: 10.1016/j.ajhg.2019.11.004. Epub 2019 Nov 27. PMID: 31785788; PMCID: PMC6904821.
Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
Schulze KV, Szafranski P, Lesmana H, Hopkin RJ, Hamvas A, Wambach JA, Shinawi M, Zapata G, Carvalho CMB, Liu Q, Karolak JA, Lupski JR, Hanchard NA, Stankiewicz P. Clin Epigenetics. 2019 Apr 8;11(1):60. doi: 10.1186/s13148-019-0655-8. PMID: 30961659; PMCID: PMC6454695.
Edematous severe acute malnutrition is characterized by hypomethylation of DNA.
Schulze KV, Swaminathan S, Howell S, Jajoo A, Lie NC, Brown O, Sadat R, Hall N, Zhao L, Marshall K, May T, Reid ME, Taylor-Bryan C, Wang X, Belmont JW, Guan Y, Manary MJ, Trehan I, McKenzie CA, Hanchard NA. Nat Commun. 2019 Dec 19;10(1):5791. doi: 10.1038/s41467-019-13433-6. PMID: 31857576; PMCID: PMC6923441.
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group; Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics; Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G. Genet Med. 2019 Jul;21(7):1548-1558. doi: 10.1038/s41436-018-0377-x. Epub 2019 Jan 14. PMID: 30636772; PMCID: PMC6659397.
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Dong Z, Yan J, Xu F, Yuan J, Jiang H, Wang H, Chen H, Zhang L, Ye L, Xu J, Shi Y, Yang Z, Cao Y, Chen L, Li Q, Zhao X, Li J, Chen A, Zhang W, Wong HG, Qin Y, Zhao H, Chen Y, Li P, Ma T, Wang WJ, Kwok YK, Jiang Y, Pursley AN, Chung JPW, Hong Y, Kristiansen K, Yang H, Piña-Aguilar RE, Leung TY, Cheung SW, Morton CC, Choy KW, Chen ZJ. Am J Hum Genet. 2019 Dec 5;105(6):1102-1111. doi: 10.1016/j.ajhg.2019.10.003. Epub 2019 Oct 31. PMID: 31679651; PMCID: PMC6904795.
2018
An RNAi screen in human cell lines reveals conserved DNA damage repair pathways that mitigate formaldehyde sensitivity.
Juarez E, Chambwe N, Tang W, Mitchell AD, Owen N, Kumari A, Monnat RJ Jr, McCullough AK. DNA Repair (Amst). 2018 Dec; 72: 1-9. PMID: 30389308
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB. Hum Mutat. 2018 Jul; 39(7): 939-946. doi: 10.1002/humu.23537. Epub 2018 May 11. PubMed PMID: 29696747; PubMed Central PMCID: PMC5995661.
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.
Pillai NR, Marafi D, Monteiro SA, Parnes M, Chandy BM, Patel A, Bacino CA, Breman AM, Burrage LC. Eur J Med Genet. 2018 Aug 22: 103531. PubMed PMID: 30142436.
Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions.
Gu S, Jernegan M, Van den Veyver IB, Peacock S, Smith J, Breman A. Prenat Diagn. 2018 Oct; 38(11): 858-865. PubMed PMID: 30094853.
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.
Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW. Mol. Genet. Metab. 2018 Mar; 123(3): 309-316. doi: 10.1016/j.ymgme.2017.12.009 Epub 2017 Dec 12. PubMed PMID: 29269105.
Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1.
Glinton KE, Levy HL, Kennedy AD, Pappan KL, Elsea SH. Mol Genet Metab Rep. 2018 Dec 29;18:14-18. doi: 10.1016/j.ymgmr.2018.12.005. eCollection 2019 Mar. PubMed PMID: 30619714; PubMed Central PMCID: PMC6312870.
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B(12) Metabolism: Case Reports and Literature Review.
Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes A. J Pediatr. 2018 Nov;202:315-319.e2. doi: 10.1016/j.jpeds.2018.06.054. Epub 2018 Jul 26. Review. PubMed PMID: 30057141.
A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.
Nagamani SCS, Agarwal U, Tam A, Azamian M, McMeans A, Didelija IC, Mohammad MA, Marini JC. Genet Med. 2018 Jul; 20(7): 708-716. doi: 10.1038/gim.2017.167. Epub 2017 Oct 12. PubMed PMID: 29693650; PubMed Central PMCID: PMC5924481.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S; Undiagnosed Diseases Network (UDN), Wangler MF, Bellen HJ, Shashi V, Yamamoto S. Hum Mol Genet. 2018 Jul 15; 27(14): 2454-2465. PubMed PMID: 29726930
Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1. Clin Imaging.
Tam A, Sliepka JM, Bellur S, Bray CD, Lincoln CM, Nagamani SCS. 2018 Sep - Oct; 51: 160-163. doi: 10.1016/j.clinimag.2018.04.017. Epub 2018 May 16. PubMed PMID: 29787982; PubMed Central PMCID: PMC6138553.
The expanding neurological phenotype of DNM1L-related disorders.
Wangler MF, Assia Batzir N, Robak LA, Koenig MK, Bacino CA, Scaglia F, Bellen HJ. Brain. 2018 Apr 1; 141(4): e28. doi: 10.1093/brain/awy024 PubMed PMID: 29529134.
Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Ghosh R, Harrison S, Rehm H, Plon S and Biesecker L. Human Mutation 2018, Nov; 39(11): 1525-1530.
Missed opportunities: unidentified genetic risk factors in prenatal care.
McClatchey T, Lay E, Strassberg M, Van den Veyver IB. Prenat Diagn. 2018 Jan;38(1):75-79. doi: 10.1002/pd.5048. Epub 2017 Apr 24. PMID: 28384392.
Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.
Vossaert L, Wang Q, Salman R, Zhuo X, Qu C, Henke D, Seubert R, Chow J, U'ren L, Enright B, Stilwell J, Kaldjian E, Yang Y, Shaw C, Levy B, Wapner R, Breman A, Van den Veyver I, Beaudet A. Prenat Diagn. 2018 Dec;38(13):1069-1078. doi: 10.1002/pd.5377. Epub 2018 Nov 19. PMID: 30357877; PMCID: PMC6587831.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network. N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10. PMID: 30304647; PMCID: PMC6481166.
