Human Genetics
Publications
Division Publications
Abdalgani M, Filipovich A, Choo S, Zhang K, Gifford C, Villanueva J, Bleesing J, Marsh R. Accuracy of Flow Cytometric Perforin Screening for Detecting Patients with Fhl Due to Prf1 Mutations. Blood . 2015; 126:1858-59.
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schule R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, et al. Mutations in Slc25a46, Encoding a Ugo1-Like Protein, Cause an Optic Atrophy Spectrum Disorder. Nat Genet . 2015; 47:926-32.
Aisner DL, Berry A, Dawson DB, Hayden RT, Joseph L, Hill CE. A Suggested Molecular Pathology Curriculum for Residents: A Report of the Association for Molecular Pathology. J Mol Diagn . 2016; 18:153-62.
Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X. Glucocerebrosidase Activity in Parkinson's Disease with and without Gba Mutations. Brain . 2015; 138:2648-58.
Allsbrook K, Atzinger C, He H, Engelhard C, Yager G, Wusik K. The Relationship between the Supervision Role and Compassion Fatigue and Burnout in Genetic Counseling. J Genet Couns . 2016.
Alvarado Socarras JL, Laverde Amaya DC, Prada C, Garcia Carrillo J. [Polydactyly, Holoprosencephaly, Cleft Lip and Cleft Palate Are Not Always What They Seem: Case Report]. Arch Argent Pediatr . 2015; 113:e290-3.
Aypar U, Hoppman N, Thorland E, Dawson D. Patients with Mosaic Methylation Patterns of the Prader-Willi/Angelman Syndrome Critical Region Exhibit as-Like Phenotypes with Some Pws Features. Mol Cytogenet . 2016; 9.
Balwani M, Burrow TA, Charrow J, Goker-Alpan O, Kaplan P, Kishnani PS, Mistry P, Ruskin J, Weinreb N. Recommendations for the Use of Eliglustat in the Treatment of Adults with Gaucher Disease Type 1 in the United States. Mol Genet Metab . 2016; 117:95-103.
Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL. Inside the 8p23.1 Duplication Syndrome; Eight Microduplications of Likely or Uncertain Clinical Significance. Am J Med Genet A . 2015; 167A:2052-64.
Basil JS, Santoro SL, Martin LJ, Healy KW, Chini BA, Saal HM. Retrospective Study of Obesity in Children with Down Syndrome. J Pediatr . 2016; 173:143-8.
Benson DW, Martin LJ, Lo CW. Genetics of Hypoplastic Left Heart Syndrome. J Pediatr . 2016; 173:25-31.
Berry SA, Leslie ND, Edick MJ, Hiner S, Justice K, Cameron C. Inborn Errors of Metabolism Collaborative: Large-Scale Collection of Data on Long-Term Follow-up for Newborn-Screened Conditions. Genet Med . 2016.
Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB, Wilfond BS, McInerney JD. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet . 2015; 97:6-21.
Boutin M, Sun Y, Shacka J, Auray-Blais C. Tandem Mass Spectrometry Multiplex Analysis of Glucosylceramide and Galactosylceramide Isoforms in Brain Tissues at Different Stages of Parkinson Disease. Anal Chem . 2016; 88:1856-63.
Bronicki L, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Riviere J-B. Ten New Cases Further Delineate the Syndromic Intellectual Disability Phenotype Caused by Mutations in Dyrk1a. Eur J Hum Genet . 2015; 23:1482-87.
Bronicki LM, Stevenson RE, Spranger JW. Beyond Osteogenesis Imperfecta: Causes of Fractures During Infancy and Childhood. Am J Med Genet C Semin Med Genet . 2015; 169:314-27.
Burton BK, Balwani M, Feillet F, Baric I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sanchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, et al. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med . 2015; 373:1010-20.
Chen J, Riazifar H, Guan M-X, Huang T. Modeling Autosomal Dominant Optic Atrophy Using Induced Pluripotent Stem Cells and Identifying Potential Therapeutic Targets. Stem Cell Res Ther . 2016; 7.
Chidambaran V, Venkatasubramanian R, Zhang X, Martin LJ, Niu J, Mizuno T, Fukuda T, Meller J, Vinks AA, Sadhasivam S. Abcc3 Genetic Variants Are Associated with Postoperative Morphine-Induced Respiratory Depression and Morphine Pharmacokinetics in Children. Pharmacogenomics J . 2016.
Chopra SS, Leshchiner I, Duzkale H, McLaughlin H, Giovanni M, Zhang C, Stitziel N, Fingeroth J, Joyce RM, Lebo M, Rehm H, Vuzman D, Maas R, Sunyaev SR, Murray M, Cassa CA. Inherited Chst11/Mir3922 Deletion Is Associated with a Novel Recessive Syndrome Presenting with Skeletal Malformation and Malignant Lymphoproliferative Disease. Mol Genet Genomic Med . 2015; 3:413-23.
Cionni M, Menke C, Stottmann RW. Novel Genetic Tools Facilitate the Study of Cortical Neuron Migration. Mamm Genome . 2016; 27:8-16.
Collins MH, Martin LJ, Alexander ES, Boyd JT, Sheridan R, He H, Pentiuk S, Putnam PE, Abonia JP, Mukkada VA, Franciosi JP, Rothenberg ME. Newly Developed and Validated Eosinophilic Esophagitis Histology Scoring System and Evidence That It Outperforms Peak Eosinophil Count for Disease Diagnosis and Monitoring. Dis Esophagus . 2016.
Dasgupta N, Xu YH, Li R, Peng Y, Pandey MK, Tinch SL, Liou B, Inskeep V, Zhang W, Setchell KD, Keddache M, Grabowski GA, Sun Y. Neuronopathic Gaucher Disease: Dysregulated Mrnas and Mirnas in Brain Pathogenesis and Effects of Pharmacologic Chaperone Treatment in a Mouse Model. Hum Mol Genet . 2015; 24:7031-48.
Davis BP, Epstein T, Kottyan L, Amin P, Martin LJ, Maddox A, Collins MH, Sherrill JD, Abonia JP, Rothenberg ME. Association of Eosinophilic Esophagitis and Hypertrophic Cardiomyopathy. J Allergy Clin Immunol . 2016; 137:934-6 e5.
Go DE, Stottmann RW. The Impact of Crispr/Cas9-Based Genomic Engineering on Biomedical Research and Medicine. Curr Mol Med . 2016; 16:343-52.
Goldschmidt ML, Mourya R, Connor J, Dexheimer P, Karns R, Miethke A, Sheridan R, Zhang K, Bezerra JA. Increased Frequency of Double and Triple Heterozygous Gene Variants in Children with Intrahepatic Cholestasis. Hepatol Res . 2016; 46:306-11.
Gramlich PA, Westbroek W, Feldman RA, Awad O, Mello N, Remington MP, Sun Y, Zhang W, Sidransky E, Betenbaugh MJ, Fishman PS. A Peptide-Linked Recombinant Glucocerebrosidase for Targeted Neuronal Delivery: Design, Production, and Assessment. J Biotechnol . 2016; 221:1-12.
Grams SE, Argiropoulos B, Lines M, Chakraborty P, McGowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E. Genotype-Phenotype Characterization in 13 Individuals with Chromosome Xp11.22 Duplications. Am J Med Genet A . 2016; 170A:967-77.
Gronwald J, Glass K, Rosen B, Karlan B, Tung N, Neuhausen S, Moller P, Ainsworth P, Sun P, Narod S, Hereditary Breast Clinical Cancer Study Group. Treatment of Infertility Does Not Increase the Risk of Ovarian Cancer among Women with a Brca1 or Brca2 Mutation. Fertil Steril . 2016; 105:781-85.
Holle JR, Marsh RA, Holdcroft AM, Davies SM, Wang L, Zhang K, Jordan MB. Hemophagocytic Lymphohistiocytosis in a Female Patient Due to a Heterozygous Xiap Mutation and Skewed X Chromosome Inactivation. Pediatr Blood Cancer . 2015; 62:1288-90.
Hong S, Hu P, Marino J, Hufnagel S, Hopkin R, Toromanovi? A, Richieri-Costa A, Ribeiro-Bicudo L, Kruszka P, Roessler E. Dominant-Negative Kinase Domain Mutations in Fgfr1 Can Explain the Clinical Severity of Hartsfield Syndrome. Hum Mol Genet . 2016.
Hopkin RJ, Jefferies JL, Laney DA, Lawson VH, Mauer M, Taylor MR, Wilcox WR, Fabry Pediatric Expert Panel. The Management and Treatment of Children with Fabry Disease: A United States-Based Perspective. Mol Genet Metab . 2016; 117:104-13.
Hrabik SA, Standridge SM, Greiner HM, Neilson DE, Pilipenko VV, Zimmerman SL, Connor JA, Spaeth CG. The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients with Epilepsy at a Tertiary Medical Center. J Child Neurol . 2015; 30:1770-7.
Huang M, Graham BE, Zhang G, Harder R, Kodaman N, Moore JH, Muglia L, Williams SM. Evolutionary Triangulation: Informing Genetic Association Studies with Evolutionary Evidence. BioData Min . 2016; 9:12.
Hufnagel RB, Zimmerman SL, Krueger LA, Bender PL, Ahmed ZM, Saal HM. A New Frontonasal Dysplasia Syndrome Associated with Deletion of the Six2 Gene. Am J Med Genet A . 2016; 170A:487-91.
Ishman SL, Tang A, Cohen AP, Elhadi Babiker H, Chini B, Ehsan Z, Fleck RJ, Gordon C, McPhail GL, Pan B, Saal HM, Shott SR, Amin RS. Decision Making for Children with Obstructive Sleep Apnea without Tonsillar Hypertrophy. Otolaryngol Head Neck Surg . 2016; 154:527-31.
Jeruschke S, Jeruschke K, DiStasio A, Karaterzi S, Buscher AK, Nalbant P, Klein-Hitpass L, Hoyer PF, Weiss J, Stottmann RW, Weber S. Everolimus Stabilizes Podocyte Microtubules Via Enhancing Tubb2b and Dcdc2 Expression. PLoS One . 2015; 10:e0137043.
Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, Zhang Z, Ji Y, Zhang J, Liang M, Zhao F, Sun YH, Zhang M, Zhou X, Chen Y, Mo JQ, Huang T, Qu J, Guan MX. The Exome Sequencing Identified the Mutation in Yars2 Encoding the Mitochondrial Tyrosyl-Trna Synthetase as a Nuclear Modifier for the Phenotypic Manifestation of Leber's Hereditary Optic Neuropathy-Associated Mitochondrial DNA Mutation. Hum Mol Genet . 2016; 25:584-96.
Jiang P, Liang M, Zhang J, Gao Y, He Z, Yu H, Zhao F, Ji Y, Liu X, Zhang M, Fu Q, Tong Y, Sun Y, Zhou X, Huang T, Qu J, Guan MX. Prevalence of Mitochondrial Nd4 Mutations in 1281 Han Chinese Subjects with Leber's Hereditary Optic Neuropathy. Invest Ophthalmol Vis Sci . 2015; 56:4778-88.
Jodele S, Zhang K, Zou F, Laskin B, Dandoy CE, Myers KC, Lane A, Meller J, Medvedovic M, Chen J, Davies SM. The Genetic Fingerprint of Susceptibility for Transplant-Associated Thrombotic Microangiopathy. Blood . 2016; 127:989-96.
Kang E, Wang X, Tippner-Hedges R, Ma H, Folmes CD, Gutierrez NM, Lee Y, Van Dyken C, Ahmed R, Li Y, Koski A, Hayama T, Luo S, Harding CO, Amato P, Jensen J, Battaglia D, Lee D, Wu D, Terzic A, et al. Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human Ipscs. Cell Stem Cell . 2016; 18:625-36.
Kannan JA, Davila-Saldana BJ, Zhang K, Filipovich AH, Kucuk ZY. Activated Phosphoinositide 3-Kinase Delta Syndrome in a Patient with a Former Diagnosis of Common Variable Immune Deficiency, Bronchiectasis, and Lymphoproliferative Disease. Ann Allergy Asthma Immunol . 2015; 115:452-4.
Kitatani K, Wada M, Perry D, Usui T, Sun Y, Obeid LM, Yaegashi N, Grabowski GA, Hannun YA. Activation of P38 Mitogen-Activated Protein Kinase in Gaucher's Disease. PLoS One . 2015; 10:e0136633.
Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, et al. The Koolen-De Vries Syndrome: A Phenotypic Comparison of Patients with a 17q21.31 Microdeletion Versus a Kansl1 Sequence Variant. Eur J Hum Genet . 2016; 24:652-9.
Kotsopoulos J, Lubinski J, Gronwald J, Cybulski C, Demsky R, Neuhausen SL, Kim-Sing C, Tung N, Friedman S, Senter L, Weitzel J, Karlan B, Moller P, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group. Factors Influencing Ovulation and the Risk of Ovarian Cancer in Brca1 and Brca2 Mutation Carriers. Int J Cancer . 2015; 137:1136-46.
Kovacic M, Martin L, Myers J, He H, Lindsey M, Mersha T, Hershey G. Genetic Approach Identifies Distinct Asthma Pathways in Overweight Vs Normal Weight Children. Allergy . 2015; 70:1028-32.
Kucuk ZY, Bleesing JJ, Marsh R, Zhang K, Davies S, Filipovich AH. A Challenging Undertaking: Stem Cell Transplantation for Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (Ipex) Syndrome. J Allergy Clin Immunol . 2016; 137:953-5 e4.
Kurowski BG, Backeljauw B, Zang H, Zhang N, Martin LJ, Pilipenko V, Yeates K, Taylor HG, Wade S. Influence of Catechol-O-Methyltransferase on Executive Functioning Longitudinally after Early Childhood Traumatic Brain Injury: Preliminary Findings. J Head Trauma Rehabil . 2016; 31:E1-9.
Landis BJ, Ware SM, James J, Shikany AR, Martin LJ, Hinton RB. Clinical Stratification of Pediatric Patients with Idiopathic Thoracic Aortic Aneurysm. J Pediatr . 2015; 167:131-7 e1-5.
Leslie N, Wang XJ, Peng YY, Valencia CA, Khuchua Z, Hata J, Witte D, Huang TS, Bove KE. Neonatal Multiorgan Failure Due to Acad9 Mutation and Complex I Deficiency with Mitochondrial Hyperplasia in Liver, Cardiac Myocytes, Skeletal Muscle, and Renal Tubules. Hum Pathol . 2016; 49:27-32.
Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa'ad AH, Roehrs PA, Bernstein JA. Defects of B-Cell Terminal Differentiation in Patients with Type-1 Kabuki Syndrome. J Allergy Clin Immunol . 2016; 137:179-87 e10.
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz J, Marsh R. Patients with Lrba Deficiency Show Ctla4 Loss and Immune Dysregulation Responsive to Abatacept Therapy. Science . 2015; 349:436-40.
Lustig LR, Alemi S, Sun Y, Grabowski G, Akil O. Role of Saposin C and D in Auditory and Vestibular Function. Laryngoscope . 2016; 126:452-9.
Ma H, Folmes CD, Wu J, Morey R, Mora-Castilla S, Ocampo A, Ma L, Poulton J, Wang X, Ahmed R, Kang E, Lee Y, Hayama T, Li Y, Van Dyken C, Gutierrez NM, Tippner-Hedges R, Koski A, Mitalipov N, Amato P, et al. Metabolic Rescue in Pluripotent Cells from Patients with Mtdna Disease. Nature . 2015; 524:234-8.
Maglo KN, Mersha TB, Martin LJ. Population Genomics and the Statistical Values of Race: An Interdisciplinary Perspective on the Biological Classification of Human Populations and Implications for Clinical Genetic Epidemiological Research. Front Genet . 2016; 7:22.
Marsh R, Rao M, Gefen A, Bellman D, Mehta P, Khandelwal P, Chandra S, Jodele S, Myers K, Grimley M. Experience with Alemtuzumab, Fludarabine, and Melphalan Reduced-Intensity Conditioning Hematopoietic Cell Transplantation in Patients with Nonmalignant Diseases Reveals Good Outcomes and That the Risk of Mixed Chimerism Depends on Underlying Disease, Stem Cell Source, and Alemtuzumab Regimen. Biol Blood Marrow Transplant . 2015; 21:1460-70.
Marshall J, Sun Y, Bangari DS, Budman E, Park H, Nietupski JB, Allaire A, Cromwell MA, Wang B, Grabowski GA, Leonard JP, Cheng SH. Cns-Accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease. Mol Ther . 2016; 24:1019-29.
Menke C, Cionni M, Siggers T, Bulyk ML, Beier DR, Stottmann RW. Grhl2 Is Required in Nonneural Tissues for Neural Progenitor Survival and Forebrain Development. Genesis . 2015; 53:573-82.
Merchán A, Ruiz Á, Campo R, Prada C, Toro J, Sánchez R, Gómez J, Jaramillo N, Molina D, Vargas-Uricoechea H. Familial Hypercholesterolemia: Review Article. Revista Colombiana De Cardiologia . 2016; 23:4-26.
Mersha TB, Martin LJ, Biagini Myers JM, Kovacic MB, He H, Lindsey M, Sivaprasad U, Chen W, Khurana Hershey GK. Genomic Architecture of Asthma Differs by Sex. Genomics . 2015; 106:15-22.
Moehrle BM, Nattamai K, Brown A, Florian MC, Ryan M, Vogel M, Bliederhaeuser C, Soller K, Prows DR, Abdollahi A, Schleimer D, Walter D, Milsom MD, Stambrook P, Porteus M, Geiger H. Stem Cell-Specific Mechanisms Ensure Genomic Fidelity within Hscs and Upon Aging of Hscs. Cell Reports . 2015; 13:2412-24.
Monangi NK, Brockway HM, House M, Zhang G, Muglia LJ. The Genetics of Preterm Birth: Progress and Promise. Semin Perinatol . 2015; 39:574-83.
Morris DW, Stucke EM, Martin LJ, Abonia JP, Mukkada VA, Putnam PE, Rothenberg ME, Fulkerson PC. Eosinophil Progenitor Levels Are Increased in Patients with Active Pediatric Eosinophilic Esophagitis. J Allergy Clin Immunol . 2016; 138:915-18 e5.
Myers M, Fernandes S, Arduser L, Hopper J, Koehly L. Talking About Type 2 Diabetes Family Communication from the Perspective of at-Risk Relatives. Diabetes Educ . 2015; 41:716-28.
Nayak RC, Trump LR, Aronow BJ, Myers K, Mehta P, Kalfa T, Wellendorf AM, Valencia CA, Paddison PJ, Horwitz MS, Grimes HL, Lutzko C, Cancelas JA. Pathogenesis of Elane-Mutant Severe Neutropenia Revealed by Induced Pluripotent Stem Cells. J Clin Invest . 2015; 125:3103-16.
Nicholson AM, Finch NA, Almeida M, Perkerson RB, van Blitterswijk M, Wojtas A, Cenik B, Rotondo S, Inskeep V, Almasy L, Dyer T, Peralta J, Jun G, Wood AR, Frayling TM, Fuchsberger C, Fowler S, Teslovich TM, Manning AK, Kumar S, et al. Prosaposin Is a Regulator of Progranulin Levels and Oligomerization. Nat Commun . 2016; 7.
O'Rawe JA, Wu Y, Dorfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, et al. Taf1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. Am J Hum Genet . 2015; 97:922-32.
Ortega RA, Torres PA, Swan M, Nichols W, Boschung S, Raymond D, Barrett MJ, Johannes BA, Severt L, Shanker V, Hunt AL, Bressman S, Pastores GM, Saunders-Pullman R. Glucocerebrosidase Enzyme Activity in Gba Mutation Parkinson's Disease. J Clin Neurosci . 2016; 28:185-6.
Palermo JJ, Lin TK, Hornung L, Valencia CA, Mathur A, Jackson K, Fei L, Abu-El-Haija M. Genophenotypic Analysis of Pediatric Patients with Acute Recurrent and Chronic Pancreatitis. Pancreas . 2016; 45:1347-52.
Peladeau C, Ahmed A, Amirouche A, Crawford Parks TE, Bronicki LM, Ljubicic V, Renaud JM, Jasmin BJ. Combinatorial Therapeutic Activation with Heparin and Aicar Stimulates Additive Effects on Utrophin a Expression in Dystrophic Muscles. Hum Mol Genet . 2016; 25:24-43.
Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J, IBEMC. Outcomes and Genotype-Phenotype Correlations in 52 Individuals with Vlcad Deficiency Diagnosed by Nbs and Enrolled in the Ibem-Is Database. Mol Genet Metab . 2016; 118:272-81.
Prada CE, Hufnagel RB, Hummel TR, Lovell AM, Hopkin RJ, Saal HM, Schorry EK. The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1. J Pediatr . 2015; 167:851-56 e1.
Riazifar H, Sun G, Wang X, Rupp A, Vemaraju S, Ross-Cisneros F, Lang R, Sadun A, Hattar S, Guan M-X. Phenotypic and Functional Characterization of Bst(+/-) Mouse Retina. Dis Model Mech . 2015; 8:969-76.
Rincon MY, Prada CE, Lopez M, Castillo V, Echeverria LE, Serrano N. Determination of Anti-Adeno-Associated Viral Vector Neutralizing Antibodies in Patients with Heart Failure in the Cardiovascular Foundation of Colombia (Anvias): Study Protocol. JMIR Res Protoc . 2016; 5:e102.
Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, et al. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients Carrying Nf1 Missense Mutations Affecting P.Arg1809: Genotype-Phenotype Correlation. Hum Mutat . 2015; 36:1052-63.
Sadhasivam S, Zhang X, Chidambaran V, Mavi J, Pilipenko V, Mersha T, Meller J, Kaufman K, Martin L, McAuliffe J. Novel Associations between Faah Genetic Variants and Postoperative Central Opioid-Related Adverse Effects. Pharmacogenomics J . 2015; 15:436-42.
Santoro SL, Martin LJ, Hopkin RJ. Screening for Hematological Disorders in Mosaic Down Syndrome: Parent Report of Experiences. Clin Pediatr (Phila) . 2016; 55:421-7.
Santoro SL, Martin LJ, Pleatman SI, Hopkin RJ. Stakeholder Buy-in and Physician Education Improve Adherence to Guidelines for Down Syndrome. J Pediatr . 2016; 171:262-8 e1-2.
Santoro SL, Yin H, Hopkin RJ. Adherence to Symptom-Based Care Guidelines for Down Syndrome. Clin Pediatr (Phila) . 2016.
Schulert GS, Bove K, McMasters R, Campbell K, Leslie N, Grom AA. 11-Month-Old Infant with Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism. Arthritis Care Res (Hoboken) . 2015; 67:1173-9.
Schulert GS, Zhang M, Fall N, Husami A, Kissell D, Hanosh A, Zhang K, Davis K, Jentzen JM, Napolitano L, Siddiqui J, Smith LB, Harms PW, Grom AA, Cron RQ. Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1n1 Influenza. J Infect Dis . 2016; 213:1180-8.
Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, et al. Clinical Delineation of the Pacs1-Related Syndrome--Report on 19 Patients. Am J Med Genet A . 2016; 170:670-5.
Segev Y, Rosen B, Lubinski J, Gronwald J, Lynch HT, Moller P, Kim-Sing C, Ghadirian P, Karlan B, Eng C, Gilchrist D, Neuhausen SL, Eisen A, Friedman E, Euhus D, Ping S, Narod SA, Hereditary Breast Cancer Study Group. Risk Factors for Endometrial Cancer among Women with a Brca1 or Brca2 Mutation: A Case Control Study. Fam Cancer . 2015; 14:383-91.
Sell K, Storch K, Hahn G, Lee-Kirsch MA, Ramantani G, Jackson S, Neilson D, von der Hagen M, Hehr U, Smitka M. Variable Clinical Course in Acute Necrotizing Encephalopathy and Identification of a Novel Ranbp2 Mutation. Brain Dev . 2016; 38:777-80.
Semple J, Metcalfe K, Lubinski J, Huzarski T, Gronwald J, Armel S, Lynch H, Karlan B, Foulkes W, Singer C. Does the Age of Breast Cancer Diagnosis in First-Degree Relatives Impact on the Risk of Breast Cancer in Brca1 and Brca2 Mutation Carriers? Breast Cancer Res Treat . 2015; 154:163-69.
Stucke EM, Clarridge KE, Collins MH, Henderson CJ, Martin LJ, Rothenberg ME. Value of an Additional Review for Eosinophil Quantification in Esophageal Biopsies. J Pediatr Gastroenterol Nutr . 2015; 61:65-8.
Sumegi J, Nestheide S, Aronow B, Fletcher D, Keddache M, Villanueva J, Zhang K, Filipovich AH. Microrna Activation Signature in Patients with Hemophagocytic Lymphohistiocytosis and Reversibility with Disease-Specific Therapy. J Allergy Clin Immunol . 2016; 137:309-12.
Tang ZH, Chen JR, Zheng J, Shi HS, Ding J, Qian XD, Zhang C, Chen JL, Wang CC, Li L, Chen JZ, Yin SK, Huang TS, Chen P, Guan MX, Wang JF. Genetic Correction of Induced Pluripotent Stem Cells from a Deaf Patient with Myo7a Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells. Stem Cells Transl Med . 2016; 5:561-71.
Tarini BA, Zikmund-Fisher BJ, Saal HM, Edmondson L, Uhlmann WR. Primary Care Providers' Initial Evaluation of Children with Global Developmental Delay: A Clinical Vignette Study. J Pediatr . 2015; 167:1404-8 e1.
Teusink A, Vinks A, Zhang K, Davies S, Fukuda T, Lane A, Nortman S, Kissell D, Dell S, Filipovich A, Mehta P. Genotype-Directed Dosing Leads to Optimized Voriconazole Levels in Pediatric Patients Receiving Hematopoietic Stem Cell Transplantation. Biol Blood Marrow Transplant . 2016; 22:482-6.
Twigg S, Hufnagel R, Miller K, Zhou Y, McGowan S, Taylor J, Craft J, Taylor J, Santoro S, Huang T. A Recurrent Mosaic Mutation in Smo, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Human Genet . 2016; 98:1256-65.
Valencia C, Husami A, Holle J, Johnson J, Qian Y, Mathur A, Wei C, Indugula S, Zou F, Meng H. Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience. pmc/PMC4522872. Front Pediatr . 2015; 3:67.
Vawter-Lee MM, Hallinan BE, Burrow TA, Spaeth CG, Arthur TM. A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy. JIMD Rep . 2015; 24:97-102.
Wang W, Wang C, Dawson DB, Thorland EC, Lundquist PA, Eckloff BW, Wu Y, Baheti S, Evans JM, Scherer SS, Dyck PJ, Klein CJ. Target-Enrichment Sequencing and Copy Number Evaluation in Inherited Polyneuropathy. Neurology . 2016; 86:1762-71.
Warren M, Turpin BK, Mark M, Smolarek TA, Li X. Undifferentiated Myxoid Lipoblastoma with Plag1-Has2 Fusion in an Infant; Morphologically Mimicking Primitive Myxoid Mesenchymal Tumor of Infancy (Pmmti)--Diagnostic Importance of Cytogenetic and Molecular Testing and Literature Review. Cancer Genet . 2016; 209:21-9.
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