Agrawal Laboratory

​2022

1. Vezyroglou A, Akilapa R, Barwick K, et al. The Phenotypic Continuum of ATPLA3-Related Disorders. Neurology. 2022

2. Sena C, Iannello G, Skowronski AA, et al. Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms. J Med Genet. 2022 

3. Zhao B, Madden JA, Lin J, et al. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Eur J Hum Genet. 2022 

4. Li Q, Lin J, Widrick JJ, et al. Dynamin-2 reduction rescues the skeletal myopathy of SPEG-deficient mouse model. JCI Insight. 2022 

5. Wojcik MH, D'Gama AM, Agrawal PB. A model to implement genomic medicine in the neonatal intensive care unit. J Perinatol. 2022 

6. Wojcik MH, Del Rosario MC, Agrawal PB. Perspectives of United States neonatologists on genetic testing practices. Genet Med. 2022 

7. Chatila TA, Benamar M, Chen Q, et al. Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children. Res Sq [Preprint]. 2022 

8. Morton SU, Christodoulou J, Costain G, et al. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurol. 2022 

9. Gofin Y, Wang T, Gillentine MA, et al. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 

10. Marcogliese PC, Deal SL, Andrews J, et al. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 

11. Khashu M, Dame C, Lavoie PM, et al. Current Understanding of Transfusion-associated Necrotizing Enterocolitis: Review of Clinical and Experimental Studies and a Call for More Definitive Evidence. Newborn (Clarksville). 2022 

12. Bruel AL, Vitobello A, Thiffault I, et al. ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum. Eur J Hum Genet. 2022 

13. Renella R, Gagne K, Beauchamp E, et al. Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2022 

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2021

1. Li Q, Madden JA, Lin J, et al. Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome. J Pers Med. 2021 

2. Stadelmaier RT, Kenna MA, Barrett D, et al. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A. 2021 

3. De La Vega FM, Chowdhury S, Moore B, et al. Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Med. 2021

4. Yabumoto M, Kianmahd J, Singh M, et al. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 

5. Thomas Q, Gautier T, Marafi D, et al. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 

6. Duncan AR, Polovitskaya MM, Gaitán-Peñas H, et al. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 

7. Li Q, Dibus M, Casey A, et al. A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. PLoS Genet. 2021 

8. Parikh JR, Genetti CA, Aykanat A, et al. A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. HGG Adv. 2021 

9. Wojcik MH, Stadelmaier R, Heinke D, et al. The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Am J Public Health. 2021 

10. Wojcik MH, Zhang T, Ceyhan-Birsoy O, et al. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 

11. Harris HK, Nakayama T, Lai J, et al. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021

12. Zhang YJ, Jimenez L, Azova S, et al. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021 

13. Kummeling J, Stremmelaar DE, Raun N, et al. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Mol Psychiatry. 2021

14. Luo S, Rosen SM, Li Q, Agrawal PB. Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease. Int J Mol Sci. 2021

15. Brownstein CA, Smith RS, Rodan LH, et al. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 

16. Almannai M, Luo S, Faqeih E, et al. Homozygous SPEGMutation Is Associated With Isolated Dilated Cardiomyopathy. Circ Genom Precis Med. 2021 

17. Li J, Hojlo MA, Chennuri S, et al. Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. J Med Internet Res. 2021 

18. Morton SU, Sefton CR, Zhang H, et al. microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy. Int J Mol Sci. 2021

19. Luo S, Li Q, Lin J, et al. SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins. Hum Mol Genet. 2021 

20. Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, et al. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clin Genet. 2021 

21. Verberne EA, Goh S, England J, et al. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. Genet Med. 2021 

22. Dyment DA, O'Donnell-Luria A, Agrawal PB, et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 

23. D'Gama AM, England E, Madden JA, et al. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A. 2021

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2020

1. Sterling N, Duncan AR, Park R, et al. De novo variants in MPP5 cause global developmental delay and behavioral changes. Hum Mol Genet. 2020

2. Duncan AR, Vitobello A, Collins SC, et al. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 

3. Li Q, Lin J, Rosen SM, et al. Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation. Am J Pathol. 2020

4. Dombrowski ND, Li Y, Zhao CX, et al. Familial and genetic factors in laryngeal cleft: Have we learned anything? Int J Pediatr Otorhinolaryngol. 2020 

5. Wojcik MH, Agrawal PB. Deciphering congenital anomalies for the next generation. Cold Spring Harb Mol Case Stud. 2020

6. Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, et al. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020

7. VanNoy GE, Wojcik MH, Genetti CA, et al. Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease. Kidney Int Rep. 2020

8. Rosen SM, Joshi M, Hitt T, Beggs AH, Agrawal PB. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Hum Mol Genet. 2020

9. Rockowitz S, LeCompte N, Carmack M, et al. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020

10. Wojcik MH, Reimers R, Poorvu T, Agrawal PB. Genetic diagnosis in the fetus. J Perinatol. 2020

11. Morton SU, Agarwal R, Madden JA, et al. Congenital Heart Defects Due to TAF1 Missense Variants. Circ Genom Precis Med. 2020 

12. Mao D, Reuter CM, Ruzhnikov MRZ, et al. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 

13. Beam K, Wojcik MH, Agrawal PB, et al. Prenatal Diagnosis of a Ventral Abdominal Wall Defect. Neoreviews. 2020 

14. D'Gama AM, Brucker WJ, Zhang T, et al. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020

15. Gubbels CS, VanNoy GE, Madden JA, et al. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 

16. Li L, Ghorbani M, Weisz-Hubshman M, et al. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. J Clin Invest. 2020

17. Boone PM, Paterson S, Mohajeri K, et al. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 

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2019

1. Milko LV, Chen F, Chan K, et al. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019 

2. Wojcik MH, Schwartz TS, Thiele KE, et al. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 

3. Kim J, Hu C, Moufawad El Achkar C, et al. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 

4. Cheng H, Capponi S, Wakeling E, et al. Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Hum Mutat. 2019

5. Kim J, Hu C, Moufawad El Achkar C, et al. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 

6. Cheng H, Capponi S, Wakeling E, et al. Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Hum Mutat. 2019

7. Wojcik MH, Thiele K, Grant CF, et al. Genome sequencing identifies the pathogenic variant missed by prior testing in an infant with marfan syndrome. J Pediatr. 2019.

8. Wojcik MH, Schwartz TS, Thiele KE, et al. Infant mortality: The contribution of genetic disorders. J Perinatol. 2019.

9. Taylor DM, Aronow BJ, Tan K, et al. The pediatric cell atlas: Defining the growth phase of human development at single-cell resolution. Dev Cell. 2019;49(1):10-29.

10. Schwartz TS, Wojcik MH, Pelletier RC, et al. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019;62(2):137-143.

11. Schmitz-Abe K, Li Q, Rosen SM, et al. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019;27(9):1398-1405.

12. Qualls AE, Donkervoort S, Herkert JC, et al. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve. 2019;59(3):357-362.

13. O'Connell AE, Gerashchenko MV, O'Donohue MF, et al. Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with pelota depletion and 80S monosome accumulation. PLoS Genet. 2019;15(2):e1007917.

14. Meng D, Li Q, Hu X, et al. Etiology and outcome of non-immune hydrops fetalis in southern china: Report of 1004 cases. Sci Rep. 2019;9(1):10726-019-47050-6.

15. Kanca O, Andrews JC, Lee PT, et al. De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia. Am J Hum Genet. 2019;105(2):413-424.

16. Jansen S, van der Werf IM, Innes AM, et al. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. Eur J Hum Genet. 2019;27(5):738-746.

17. Genetti CA, Schwartz TS, Robinson JO, et al. Parental interest in genomic sequencing of newborns: Enrollment experience from the BabySeq project. Genet Med. 2019;21(3):622-630.

18. Fu C, Luo S, Zhang Y, et al. Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations. Clin Chim Acta. 2019;489:103-108.

19. Edward HL, D'Gama AM, Wojcik MH, et al. A novel missense mutation in TFAP2B associated with char syndrome and central diabetes insipidus. Am J Med Genet A. 2019;179(7):1299-1303.

20. Ceyhan-Birsoy O, Murry JB, Machini K, et al. Interpretation of genomic sequencing results in healthy and ill newborns: Results from the BabySeq project. Am J Hum Genet. 2019;104(1):76-93.

21. Karas L, Lu CY, Agrawal PB, Asgari MM. The impact of the orphan drug act on food and drug administration-approved therapies for rare skin diseases and skin-related cancers. J Am Acad Dermatol. 2019;81(3):867-877.

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2018

1. Wojcik MH, Wierenga KJ, Rodan LH, et al. Beta-ketothiolase deficiency presenting with metabolic stroke after a normal newborn screen in two individuals. JIMD Rep. 2018;39:45-54.

2. Wojcik MH, Schwartz TS, Yamin I, et al. Genetic disorders and mortality in infancy and early childhood: Delayed diagnoses and missed opportunities. Genet Med. 2018;20(11):1396-1404.

3. Wojcik MH, Okada K, Prabhu SP, et al. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2018;176(12):2623-2629.

4. Torres A, Brownstein CA, Tembulkar SK, et al. De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep. 2018;16:23-29.

5. Shu C, Huang H, Xu Y, et al. Pressure overload in mice with haploinsufficiency of striated preferentially expressed gene leads to decompensated heart failure. Front Physiol. 2018;9:863.

6. Sacharow SJ, Dudenhausen EE, Lomelino CL, et al. Characterization of a novel variant in siblings with asparagine synthetase deficiency. Mol Genet Metab. 2018;123(3):317-325.

7. Rodan LH, Hauptman M, D'Gama AM, et al. Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies. Mol Genet Metab. 2018;124(2):161-167.

8. Quinones-Perez B, VanNoy GE, Towne MC, et al. Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome. Am J Med Genet A. 2018;176(3):560-569.

9. O'Connell AE, Zhou F, Shah MS, et al. Neonatal-onset chronic diarrhea caused by homozygous nonsense WNT2B mutations. Am J Hum Genet. 2018;103(1):131-137.

10. Murry JB, Machini K, Ceyhan-Birsoy O, et al. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: A BabySeq project case report. Cold Spring Harb Mol Case Stud. 2018;4(4):10.1101/mcs.a002873. Print 2018 Aug.

11. Metz KA, Teng X, Coppens I, et al. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. Ann Neurol. 2018;84(5):766-780.

12. Mavros CF, Brownstein CA, Thyagrajan R, et al. De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: A case report. BMC Med Genet. 2018;19(1):197-018-0711-9.

13. Lo MS, Towne M, VanNoy GE, et al. Monogenic hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene. J Autoimmun. 2018;86:116-119.

14. Lessel D, Gehbauer C, Bramswig NC, et al. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018;141(8):2299-2311.

15. Katwa U, D'Gama AM, Qualls AE, et al. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. Am J Med Genet A. 2018;176(7):1627-1631.

16. Huntoon V, Widrick JJ, Sanchez C, et al. SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling. Hum Mol Genet. 2018;27(9):1608-1617.

17. Holm IA, Agrawal PB, Ceyhan-Birsoy O, et al. The BabySeq project: Implementing genomic sequencing in newborns. BMC Pediatr. 2018;18(1):225-018-1200-1.

18. Galambos C, Mullen MP, Shieh JT, et al. Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension. Eur Respir J. 2019;54(2):10.1183/13993003.01965-2018. Print 2019 Aug.

19. Fan X, Xie B, Zou J, et al. Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab Rep. 2018;16:15-19.

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2017

1. Morton SU, Prabhu SP, Lidov HGW, et al. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.  Cold Spring Harb Mol Case Stud. 2017;3(2):a001560.

2. Morton SU, Neilan EG, Peake RWA, et al. Hyperammonemia as a presenting feature in two siblings with FBXL4 variants. JIMD Rep. 2017;35:7-15.

3. Mehta P, Kuspert M, Bale T, et al. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve. 2017;55(5):761-765.

4. Kury S, van Woerden GM, Besnard T, et al. De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability. Am J Hum Genet. 2017;101(5):768-788.

5. Guerriero RM, Patel AA, Walsh B, et al. Systemic manifestations in pyridox(am)ine 5'-phosphate oxidase deficiency. Pediatr Neurol. 2017;76:47-53.

6. Edvardson S, Nicolae CM, Agrawal PB, et al. Heterozygous de novo UBTF gain-of-function variant is associated with neurodegeneration in childhood. Am J Hum Genet. 2017;101(2):267-273.

7. Depienne C, Nava C, Keren B, et al. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Hum Genet. 2017;136(4):463-479.

8. Ceyhan-Birsoy O, Machini K, Lebo MS, et al. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017;19(7):809-818.

9. Cao S, Smith LL, Padilla-Lopez SR, et al. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Hum Mol Genet. 2017;26(18):3545-3552.

10. Bairdain S, Zurakowski D, Vargas SO, et al. Long-gap esophageal atresia is a unique entity within the esophageal atresia defect spectrum. Neonatology. 2017;111(2):140-144.

11. Agrawal PB, Wang R, Li HL, et al. The epithelial sodium channel is a modifier of the long-term nonprogressive phenotype associated with F508del CFTR mutations. Am J Respir Cell Mol Biol. 2017;57(6):711-720.

12. Berg JS, Agrawal PB, Bailey DB,Jr, et al. Newborn sequencing in genomic medicine and public health. Pediatrics. 2017;139(2):10.1542/peds.2016-2252. Epub 2017 Jan 17.

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2016

1. Smedemark-Margulies N, Brownstein CA, Vargas S, et al. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016;2(5):a001008.

2. Palmer S, Towne MC, Pearl PL, et al. SLC6A1 mutation and ketogenic diet in epilepsy with myoclonic-atonic seizures. Pediatr Neurol. 2016;64:77-79.

3. Lacy JN, Ulirsch JC, Grace RF, et al. Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. Cold Spring Harb Mol Case Stud. 2016;2(4):a000885.

4. Joshi M, Anselm I, Shi J, et al. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-alpha protein (PMPCA) cause a severe mitochondrial disease. Cold Spring Harb Mol Case Stud. 2016;2(3):a000786.

5. Brownstein CA, Beggs AH, Rodan L, et al. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016;17(1):11-16.

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2015

1. Thaker VV, Esteves KM, Towne MC, et al. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015;100(5):1723-1730.

2. Subramanian K, Gianni D, Balla C, et al. Cofilin-2 phosphorylation and sequestration in myocardial aggregates: Novel pathogenetic mechanisms for idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2015;65(12):1199-1214.

3. Morton SU, Joshi M, Savic T, Beggs AH, Agrawal PB. Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. PLoS One. 2015;10(4):e0123829.

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2014

1. Leeman KT, Dobson L, Towne M, et al. NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. J Perinatol. 2014;34(5):410-411.

2. Joshi M, Eagan J, Desai NK, et al. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet. 2014;22(10):1229-1232.

3. Agrawal PB, Pierson CR, Joshi M, et al. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014;95(2):218-226.

4. Agrawal PB, Joshi M, Marinakis NS, et al. Expanding the phenotype associated with the NEFL mutation: Neuromuscular disease in a family with overlapping myopathic and neurogenic findings. JAMA Neurol. 2014;71(11):1413-1420.

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2013

1. Touma M, Joshi M, Connolly MC, et al. Whole genome sequencing identifies SCN2A mutation in monozygotic twins with ohtahara syndrome and unique neuropathologic findings. Epilepsia. 2013;54(5):e81-5.

2. Sankaran VG, Joshi M, Agrawal A, et al. Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. Blood. 2013;122(23):3845-3847.

3. Sankaran VG, Agrawal PB. Stimulating erythropoiesis in neonates. Am J Hematol. 2013;88(11):930-931.

4. Christensen RD, Yaish HM, Leon EL, Sola-Visner MC, Agrawal PB. A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and noonan syndrome. Neonatology. 2013;104(1):1-5.

5. Chandonnet CJ, Kahlon PS, Rachh P, et al. Health care failure mode and effect analysis to reduce NICU line-associated bloodstream infections. Pediatrics. 2013;131(6):e1961-9.

6. Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013;81(14):1205-1214.

7. Brownstein CA, Towne MC, Luquette LJ, et al. Mutation of KCNJ8 in a patient with cantu syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013;56(12):678-682.

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2012

1. Ockeloen CW, Gilhuis HJ, Pfundt R, et al. Congenital myopathy caused by a novel missense mutation in the CFL2 gene. Neuromuscul Disord. 2012;22(7):632-639.

2. Majczenko K, Davidson AE, Camelo-Piragua S, et al. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012;91(2):365-371.

3. Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH. Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet. 2012;21(10):2341-2356.

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2010

1. Chiu CH, Thakuria J, Agrawal PB. Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies. Indian J Pediatr. 2010;77(2):208-209.

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2007

1. Pierson CR, Agrawal PB, Blasko J, Beggs AH. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord. 2007;17(7):562-568.

2. Agrawal PB, Greenleaf RS, Tomczak KK, et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet. 2007;80(1):162-167.

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2004

1. Agrawal PB, Strickland CD, Midgett C, et al. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol. 2004;56(1):86-96.

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1998

1. Narang A, Agrawal PB, Chakrabarti A, Kumar P. Epidemiology of systemic candidiasis in a tertiary care neonatal unit. J Trop Pediatr. 1998;44(2):104-108.

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1996

1. Agrawal PB, Narang A, Kumar P. Fluconazole. Indian J Pediatr. 1996;63(6):775-780.

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1993

1. Beggs AH, Agrawal PB. Multiminicore disease. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. Genereviews((r)). Seattle (WA): University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993. NBK1290 [bookaccession].