Department of Molecular and Human Genetics

Trainee Publications

Master
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Trainee Publications: 2019

Content

Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. 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.

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. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. 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.

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.

Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. 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.

Shayota BJ, Soler-Alfonso C, Bekheirnia MR, Mizerik E, Boyer SW, Xiao R, Yang Y, Elsea SH, Scaglia F. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. Am J Med Genet A. 2019 May;179(5):803-807. doi: 10.1002/ajmg.a.61074. Epub 2019 Mar 7. PubMed PMID: 30848071.

Shayota BJ, Elsea SH. Behavior and sleep disturbance in Smith-Magenis syndrome. Curr Opin Psychiatry. 2019 Mar;32(2):73-78. doi: 10.1097/YCO.0000000000000474. PubMed PMID: 30557269; PubMed Central PMCID: PMC6362978.

Soler-Alfonso C, Pillai N, Cooney E, Mysore KR, Boyer S, Scaglia F. L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency. 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.

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Trainee Publications: 2018

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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. Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Mol. Genet. Metab. 2018 Mar; 123(3): 309-316. doi: 10.1016/j.ymgme.2017.12.009 Epub 2017 Dec 12. PubMed PMID: 29269105.

Glinton KE, Levy HL, Kennedy AD, Pappan KL, Elsea SH. Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. 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.

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. Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B(12) Metabolism: Case Reports and Literature Review. J Pediatr. 2018 Nov;202:315-319.e2. doi: 10.1016/j.jpeds.2018.06.054. Epub 2018 Jul 26. Review. PubMed PMID: 30057141.

Nagamani SCS, Agarwal U, Tam A, Azamian M, McMeans A, Didelija IC, Mohammad MA, Marini JC. A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. 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.

Tam A, Sliepka JM, Bellur S, Bray CD, Lincoln CM, Nagamani SCS. Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1. Clin Imaging. 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.

Wangler MF, Assia Batzir N, Robak LA, Koenig MK, Bacino CA, Scaglia F, Bellen HJ. The expanding neurological phenotype of DNM1L-related disorders. Brain. 2018 Apr 1; 141(4): e28. doi: 10.1093/brain/awy024 PubMed PMID: 29529134.

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Trainee Publications: 2017

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Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 Dec 4; 171(12): e173438. doi: 10.1001/jamapediatrics.2017.3438 Epub 2017 Dec 4. PubMed PMID: 28973083.

Cao F, Lu L, Abrams SA, Hawthorne KM, Tam A, Jin W, Dawson B, Shypailo R, Liu H, Lee B, Nagamani SCS, Wang LL. Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. Hum Mol Genet. 2017 Aug 15; 26(16): 3046-3055. doi: 10.1093/hmg/ddx178 PubMed PMID: 28486640; PubMed Central PMCID: PMC5886079

Marini JC, Agarwal U, Didelija IC, Azamian M, Stoll B, Nagamani SC. Plasma Glutamine Is a Minor Precursor for the Synthesis of Citrulline: A Multispecies Study. J Nutr. 2017 Apr; 147(4): 549-555. doi: 10.3945/jn.116.243592 Epub 2017 Mar 8. PubMed PMID: 28275102; PubMed Central PMCID: PMC5368584.

Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschké P, Garrigue A, de Saint Basile G, Kivuva E; DDD Study, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. Am J Hum Genet. 2017 Dec 7; 101(6): 995-1005. doi: 10.1016/j.ajhg.2017.10.009 Epub 2017 Nov 30. PubMed PMID: 29198722; PubMed Central PMCID: PMC5812890.

Cooney E, Bi W, Schlesinger AE, Vinson S, Potocki L. Novel EED mutation in patient with Weaver syndrome. Am J Med Genet A. 2017 Feb;173(2):541-545. doi: 10.1002/ajmg.a.38055. Epub 2016 Nov 21. PubMed PMID: 27868325.

Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 Aug;121(4):314-319. doi: 10.1016/j.ymgme.2017.06.009. Epub 2017 Jun 24. PubMed PMID: 28673551.