Clinical Assistant Professor
Pediatrics, Clinical Genetics
Pediatrics, University of Tennessee Health Science Center, Memphis, LeBonheur Children's Hospital
Clinical Genetics, University of Tennessee Health Science Center, Memphis, Tennessee
American Board of Pediatrics
American Board of Medical Genetics
Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Humpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Sterbova K, Hammer TB, Moller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG.
A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathy. American Journal of Human Genetics. 2019 May 2. [Epub ahead of print]
Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis J, Meyer A, Lal P, Godoy-Matos AF, Teles MG, Adams-Huet B, Rader DJ, Hegele RA, Oral EA, Garg A.
A novel generalized lipodystrophy-associated progeroid syndrome due to recurrent heterozygous LMNA p.T10I mutation. The Journal of Clinical Endocrinology and Metabolism. 2018 Mar 1;103(3):1005-1014.
Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M.
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. Human Molecular Genetics. 2017 Nov 1;26(21):4095-4104.
Gozes I, Patterson MC, Van Dijck A, Kooy RF, Peeden JN, Eichenberger JA, Zawacki-Downing A, Bedrosian-Sermone S.
The eight and a half year journey of undiagnosed AD: Gene sequencing and funding of advanced genetic testing has led to hope and new beginnings. Frontiers in Endocrinology. 2017 May 19;8:107. eCollection 2017.
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