William McAlister

Research output

Research output per year 1961 1965 1970 1972 1974 1975 1978 1979 1980 1981 1985 1987 1989 1990 1991 1997 2000 2022

• 339 Article
• 10 Review article
• 7 Letter
• 3 Comment/debate
• 3 More
  • 1 Conference contribution
  • 1 Editorial
  • 1 Short survey

Research output per year

Research output per year

Search results

• 2022

  Periarticular calcifications containing giant pseudo-crystals of francolite in skeletal fluorosis from 1,1-difluoroethane “huffing”

  Salles Rosa Neto, N., Englert, D., McAlister, W. H., Mumm, S., Mills, D., Veis, D. J., Burshell, A., Boyde, A. & Whyte, M. P., Jul 2022, In: Bone. 160, 116421.

  Research output: Contribution to journal › Article › peer-review

  • 1,1-difluoroethane 100%
  • Axial osteosclerosis 49%
  • Inhalation 43%
  • fluorapatite 39%
  • Hypophosphatasia 36%
• 2021

  Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V

  Whyte, M. P., Aronson, J., McAlister, W. H., Weinstein, R. S., Wenkert, D., Clements, K. L., Gottesman, G. S., Madson, K. L., Stolina, M., Bijanki, V. N., Plotkin, H., Huskey, M., Duan, S. & Mumm, S., Apr 2021, In: Bone. 145, 115835.

  Research output: Contribution to journal › Article › peer-review

  • Type V Osteogenesis Imperfecta 100%
  • Bone and Bones 30%
  • Mutation 28%
  • Bone Remodeling 26%
  • Leg Bones 20%
  4 Scopus citations

• Non-endemic skeletal fluorosis: Causes and associated secondary hyperparathyroidism (case report and literature review)

  Cook, F. J., Seagrove-Guffey, M., Mumm, S., Veis, D. J., McAlister, W. H., Bijanki, V. N., Wenkert, D. & Whyte, M. P., Apr 2021, In: Bone. 145, 115839.

  Research output: Contribution to journal › Article › peer-review

  • Secondary Hyperparathyroidism 100%
  • Calcium 55%
  • Parathyroid Hormone 40%
  • Femur 37%
  • Serum 36%
  9 Scopus citations

• Vitamin B₆ deficiency with normal plasma levels of pyridoxal 5′-phosphate in perinatal hypophosphatasia

  Whyte, M. P., May, J. D., McAlister, W. H., Burgener, K., Cortez, S. R., Kreienkamp, R., Castro, O., Verzola, R., Zavala, A. S., McPherson, C. C., Gottesman, G. S., Ericson, K. L., Coburn, S. P. & Arbelaez, A. M., Sep 2021, In: Bone. 150, 116007.

  Research output: Contribution to journal › Article › peer-review

  • Hypophosphatasia 100%
  • Vitamin B 6 Deficiency 97%
  • Pyridoxal Phosphate 83%
  • Pyridoxic Acid 46%
  • asfotase alfa 35%
  5 Scopus citations
• 2020

  Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

  Mumm, S., Gottesman, G. S., Wenkert, D., Campeau, P. M., Nenninger, A., Huskey, M., Bijanki, V. N., Veis, D. J., Barnes, A. M., Marini, J. C., Stolina, M., Zhang, F., McAlister, W. H. & Whyte, M. P., Jan 2020, In: Bone. 130, 115047.

  Research output: Contribution to journal › Article › peer-review

  • Bruck syndrome 2 100%
  • Contracture 46%
  • Osteogenesis Imperfecta 28%
  • Genetic Databases 27%
  • 2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine 23%
  12 Scopus citations

• Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health

  Lin, E. L., Gottesman, G. S., McAlister, W. H., Bijanki, V. N., Mack, K. E., Griffin, D. M., Mumm, S. & Whyte, M. P., Jul 2020, In: Bone. 136, 115322.

  Research output: Contribution to journal › Article › peer-review

  • Hypophosphatasia 100%
  • Rickets 81%
  • Vitamin D Deficiency 71%
  • Minerals 60%
  • Vitamin D 58%
  9 Scopus citations

• Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

  Whyte, M. P., Amalnath, S. D., McAlister, W. H., McKee, M. D., Veis, D. J., Huskey, M., Duan, S., Bijanki, V. N., Alur, S. & Mumm, S., Mar 2020, In: Bone. 132, 115190.

  Research output: Contribution to journal › Article › peer-review

  • Enthesopathy 100%
  • Osteosclerosis 95%
  • Hyperostosis 89%
  • Osteopontin 74%
  • Dentin 66%
  8 Scopus citations

• Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7)

  Whyte, M. P., Campeau, P. M., McAlister, W. H., Roodman, G. D., Kurihara, N., Nenninger, A., Duan, S., Gottesman, G. S., Bijanki, V. N., Sedighi, H., Veis, D. J. & Mumm, S., Aug 2020, In: Bone. 137, 115364.

  Research output: Contribution to journal › Article › peer-review

  • Hyperostosis corticalis deformans juvenilis 100%
  • Sp7 Transcription Factor 96%
  • Sp Transcription Factors 89%
  • Osteoprotegerin 37%
  • Mutation 29%
  9 Scopus citations

• Monteggia Fracture in an Extremely Preterm Infant with Biochemical Rickets: A Case Report

  Viehl, L., Kelly, B. A., McAlister, W., Anadkat, J. & Julian, S., Apr 1 2020, In: JBJS case connector. 10, 2, p. e0454

  Research output: Contribution to journal › Article › peer-review

  • Monteggia's Fracture 100%
  • Extremely Premature Infants 84%
  • Rickets 76%
  • Intraoperative Complications 31%
  • Enteral Nutrition 31%

• Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy

  Whyte, M. P., Ma, N. S., Mumm, S., Gottesman, G. S., McAlister, W. H., Nenninger, A. R., Bijanki, V. N., Ericson, K. L. & Magnusson, P., Sep 2020, In: Bone. 138, 115459.

  Research output: Contribution to journal › Article › peer-review

  • Alkaline Phosphatase 100%
  • Bone and Bones 66%
  • Post Translational Protein Processing 32%
  • Phosphoric Monoester Hydrolases 32%
  • Isoenzymes 32%
  3 Scopus citations
• 2019

  Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study

  Frost, M., Tencerova, M., Andreasen, C. M., Andersen, T. L., Ejersted, C., Svaneby, D., Qui, W., Kassem, M., Zarei, A., McAlister, W. H., Veis, D. J., Whyte, M. P. & Frederiksen, A. L., Apr 2019, In: Bone. 121, p. 243-254 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Osteopetrosis 100%
  • Case-Control Studies 56%
  • Incontinentia Pigmenti 47%
  • Phenotype 41%
  • Mutation 39%
  3 Scopus citations

• Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial

  Whyte, M. P., Simmons, J. H., Moseley, S., Fujita, K. P., Bishop, N., Salman, N. J., Taylor, J., Phillips, D., McGinn, M. & McAlister, W. H., Feb 2019, In: The Lancet Diabetes and Endocrinology. 7, 2, p. 93-105 13 p.

  Research output: Contribution to journal › Article › peer-review

  • asfotase alfa 100%
  • Hypophosphatasia 80%
  • Infantile Hypophosphatasia 25%
  • Child 21%
  • Craniosynostoses 11%
  67 Scopus citations

• Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes

  Thompson, E., Abdalla, E., Superti-Furga, A., McAlister, W., Kratz, L., Unger, S., Royer-Bertrand, B., Campos-Xavier, B., Mittaz-Crettol, L., Amin, A. K., DeSanto, C., Wilson, D. B., Douglas, G., Kozel, B. & Shinawi, M., Mar 2019, In: Bone. 120, p. 354-363 10 p.

  Research output: Contribution to journal › Article › peer-review

  • lamin B receptor 100%
  • Phenotype 33%
  • Exome 33%
  • Sterols 32%
  • Exons 23%
  9 Scopus citations

• New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6

  Whyte, M. P., McAlister, W. H., Zhang, F., Bijanki, V. N., Nenninger, A., Gottesman, G. S., Lin, E. L., Huskey, M., Duan, S., Dahir, K. & Mumm, S., Oct 2019, In: Bone. 127, p. 228-243 16 p.

  Research output: Contribution to journal › Article › peer-review

  • Low Density Lipoprotein Receptor-Related Protein-6 100%
  • Low Density Lipoprotein Receptor-Related Protein-5 98%
  • Bone and Bones 34%
  • Mutation 32%
  • Missense Mutation 9%
  32 Scopus citations

• No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia

  Whyte, M. P., McAlister, W. H., Mumm, S. & Bierhals, A. J., May 2019, In: Bone. 122, p. 231-236 6 p.

  Research output: Contribution to journal › Article › peer-review

  • asfotase alfa 100%
  • Hypophosphatasia 80%
  • Vascular Calcification 65%
  • Tomography 34%
  • Elderly 34%
  10 Scopus citations

• Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency

  Sandler-Wilson, C., Wambach, J. A., Marshall, B. A., Wegner, D. J., McAlister, W., Cole, F. S. & Shinawi, M., Jul 2019, In: Bone. 124, p. 14-21 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Ehlers-Danlos Syndrome 100%
  • Growth Hormone 67%
  • Siblings 65%
  • N-Acetyllactosamine Synthase 63%
  • Reunion 52%
  6 Scopus citations
• 2018

  Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5)

  Otaify, G. A., Whyte, M. P., Gottesman, G. S., McAlister, W. H., Eric Gordon, J., Hollander, A., Andrews, M. V., El-Mofty, S. K., Chen, W. S., Veis, D. V., Stolina, M., Woo, A. S., Katsonis, P., Lichtarge, O., Zhang, F. & Shinawi, M., Feb 2018, In: Bone. 107, p. 161-171 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Levin type Osteogenesis imperfecta 100%
  • Anoctamins 85%
  • Mutation 26%
  • Cementoma 20%
  • Genes 19%
  18 Scopus citations

• Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review

  Whyte, M. P., Deepak Amalnath, S., McAlister, W. H., Pedapati, R., Muthupillai, V., Duan, S., Huskey, M., Bijanki, V. N. & Mumm, S., Nov 2018, In: Bone. 116, p. 321-332 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Sclerosteosis 100%
  • Lipoprotein Receptors 51%
  • Syndactyly 37%
  • Loss of Function Mutation 20%
  • Proteins 16%
  14 Scopus citations

• Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis

  Whyte, M. P., Lim, E., McAlister, W. H., Gottesman, G. S., Trinh, L., Veis, D. J., Bijanki, V. N., Boden, M. G., Nenninger, A., Mumm, S. & Buchbinder, D., Nov 2018, In: Journal of Bone and Mineral Research. 33, 11, p. 2071-2080 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Blau syndrome 100%
  • Osteosclerosis 86%
  • 1,25-dihydroxyvitamin D 76%
  • Hypercalcemia 63%
  • Protein Domains 57%
  7 Scopus citations

• Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale

  Whyte, M. P., Fujita, K. P., Moseley, S., Thompson, D. D. & McAlister, W. H., May 2018, In: Journal of Bone and Mineral Research. 33, 5, p. 868-874 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hypophosphatasia 100%
  • Newborn Infant 48%
  • asfotase alfa 41%
  • Rickets 27%
  • Child 27%
  27 Scopus citations
• 2017

  Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS

  Whyte, M. P., Griffith, M., Trani, L., Mumm, S., Gottesman, G. S., McAlister, W. H., Krysiak, K., Lesurf, R., Skidmore, Z. L., Campbell, K. M., Rosman, I. S., Bayliss, S., Bijanki, V. N., Nenninger, A., Van Tine, B. A., Griffith, O. L. & Mardis, E. R., Aug 1 2017, In: Bone. 101, p. 145-155 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Melorheostosis 100%
  • Mosaicism 69%
  • Exome 68%
  • Skin Diseases 54%
  • Osteopoikilosis 33%
  29 Scopus citations

• Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)

  Whyte, M. P., McAlister, W. H., Fallon, M. D., Pierpont, M. E., Bijanki, V. N., Duan, S., Otaify, G. A., Sly, W. S. & Mumm, S., Apr 2017, In: Journal of Bone and Mineral Research. 32, 4, p. 757-769 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Osteomalacia, Sclerosing, with Cerebral Calcification 100%
  • Raine syndrome 79%
  • Genetic Databases 50%
  • Mutation 21%
  • Missense Mutation 20%
  30 Scopus citations

• Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner

  Tucci, J. R., Whitford, G. M., McAlister, W. H., Novack, D. V., Mumm, S., Keaveny, T. M. & Whyte, M. P., Jan 1 2017, In: Journal of Bone and Mineral Research. 32, 1, p. 188-195 8 p.

  Research output: Contribution to journal › Article › peer-review

  • 1,1-difluoroethane 100%
  • Forearm 89%
  • Inhalation 86%
  • Hip 76%
  • Mobility Limitation 62%
  17 Scopus citations
• 2016

  Asfotase alfa therapy for children with hypophosphatasia

  Whyte, M. P., Madson, K. L., Phillips, D., Reeves, A. L., McAlister, W. H., Yakimoski, A., Mack, K. E., Hamilton, K., Kagan, K., Fujita, K. P., Thompson, D. D., Moseley, S., Odrljin, T. & Rockman-Greenberg, C., Jun 16 2016, In: JCI Insight. 1, 9, e85971.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • asfotase alfa 100%
  • Hypophosphatasia 80%
  • Isoenzymes 33%
  • Alkaline Phosphatase 29%
  • Child 21%
  108 Scopus citations

• Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

  Gottesman, G. S., Madson, K. L., Mcalister, W. H., Nenninger, A., Wenkert, D., Mumm, S. & Whyte, M. P., Apr 1 2016, In: American Journal of Medical Genetics, Part A. 170, 4, p. 978-985 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Hyperostosis corticalis deformans juvenilis 100%
  • Osteoprotegerin 66%
  • Osteogenesis 45%
  • Elastic Cartilage 45%
  • Diphosphonates 28%
  8 Scopus citations

• Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9

  Phatarakijnirund, V., Mumm, S., McAlister, W. H., Novack, D. V., Wenkert, D., Clements, K. L. & Whyte, M. P., Mar 1 2016, In: Bone. 84, p. 289-298 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Congenital Pain Insensitivity 100%
  • Voltage-Gated Sodium Channels 78%
  • Joint Instability 56%
  • Gain of Function Mutation 37%
  • Histology 34%
  45 Scopus citations

• Neonatal High Bone Mass with First Mutation of the NF-κB Complex: Heterozygous de Novo Missense (p.Asp512Ser) RELA (Rela/p65)

  Frederiksen, A. L., Larsen, M. J., Brusgaard, K., Novack, D. V., Knudsen, P. J. T., Schrøder, H. D., Qiu, W., Eckhardt, C., McAlister, W. H., Kassem, M., Mumm, S., Frost, M. & Whyte, M. P., Jan 1 2016, In: Journal of Bone and Mineral Research. 31, 1, p. 163-172 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Osteopetrosis 100%
  • Osteoclasts 71%
  • Bone and Bones 62%
  • Mutation 58%
  • Osteoblasts 49%
  16 Scopus citations
• 2015

  Erratum: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis (Journal of Bone and Mineral Research (2015) 30:946 (1537) 10.1002/jbmr.2455)

  Whyte, M. P., Madson, K. L., McAlister, W. H., Mumm, S., Novack, D. V., Blair, J. C. & Shaw, N. J., Aug 1 2015, In: Journal of Bone and Mineral Research. 30, 8, p. 1537 1 p.

  Research output: Contribution to journal › Comment/debate

• Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients

  Whyte, M. P., Zhang, F., Wenkert, D., McAlister, W. H., Mack, K. E., Benigno, M. C., Coburn, S. P., Wagy, S., Griffin, D. M., Ericson, K. L. & Mumm, S., Jun 1 2015, In: Bone. 75, p. 229-239 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Hypophosphatasia 100%
  • Childhood Hypophosphatasia 45%
  • Pediatrics 40%
  • Isoenzymes 28%
  • Child 27%
  161 Scopus citations

• Lenz-majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1

  Whyte, M. P., Blythe, A., McAlister, W. H., Nenninger, A. R., Bijanki, V. N. & Mumm, S., Apr 1 2015, In: Journal of Bone and Mineral Research. 30, 4, p. 606-614 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Lenz Majewski hyperostotic dwarfism 100%
  • CDPdiacylglycerol-Serine O-Phosphatidyltransferase 78%
  • Phosphatidylserines 38%
  • Osteosclerosis 25%
  • Mutation 23%
  14 Scopus citations

• PHEX 30-UTR c.∗231A>G Near the Polyadenylation Signal is a Relatively Common, Mild, American Mutation That Masquerades as Sporadic or X-Linked Recessive Hypophosphatemic Rickets

  Mumm, S., Huskey, M., Cajic, A., Wollberg, V., Zhang, F., Madson, K. L., Wenkert, D., McAlister, W. H., Gottesman, G. S. & Whyte, M. P., Jan 1 2015, In: Journal of Bone and Mineral Research. 30, 1, p. 137-143 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Familial Hypophosphatemic Rickets 100%
  • Untranslated Regions 87%
  • Polyadenylation 81%
  • Mutation 35%
  • Hypophosphatemic Rickets 25%
  19 Scopus citations

• Response to: Rapid skeletal turnover in radiographic mimic of osteopetrosis might be secondary to systemic mastocytosis

  Whyte, M. P., Madson, K. L., McAlister, W. H., Mumm, S., Novack, D. V., Blair, J. C. & Shaw, N. J., May 1 2015, In: Journal of Bone and Mineral Research. 30, 5, p. 946 1 p.

  Research output: Contribution to journal › Letter › peer-review
  1 Scopus citations
• 2014

  Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK

  Whyte, M. P., Tau, C., McAlister, W. H., Zhang, X., Novack, D. V., Preliasco, V., Santini-Araujo, E. & Mumm, S., Nov 1 2014, In: Bone. 68, p. 153-161 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Hyperostosis corticalis deformans juvenilis 100%
  • Bone Remodeling 35%
  • Hereditary expansile Polyostotic osteolytic dysplasia 34%
  • Femur 31%
  • Mutation 29%
  36 Scopus citations

• Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis

  Mumm, S., Huskey, M., Duan, S., Wenkert, D., Madson, K. L., Gottesman, G. S., Nenninger, A. R., Laxer, R. M., Mcalister, W. H. & Whyte, M. P., Sep 2014, In: American Journal of Medical Genetics, Part A. 164, 9, p. 2287-2293 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Hajdu-Cheney Syndrome 100%
  • Osteogenesis 47%
  • Mutation 30%
  • Transcriptional Activation 14%
  • Nuclear Family 11%
  30 Scopus citations

• Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK

  Schafer, A. L., Mumm, S., El-Sayed, I., McAlister, W. H., Horvai, A. E., Tom, A. M., Hsiao, E. C., Schaefer, F. V., Collins, M. T., Anderson, M. S., Whyte, M. P. & Shoback, D. M., Apr 2014, In: Journal of Bone and Mineral Research. 29, 4, p. 911-921 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Bone Diseases 100%
  • Protein Sorting Signals 96%
  • Jaw 91%
  • Extremities 52%
  • Mutation 50%
  17 Scopus citations

• Rapid skeletal turnover in a radiographic mimic of osteopetrosis

  Whyte, M. P., Madson, K. L., Mumm, S., McAlister, W. H., Novack, D. V., Blair, J. C., Helliwell, T. R., Stolina, M., Abernethy, L. J. & Shaw, N. J., Dec 1 2014, In: Journal of Bone and Mineral Research. 29, 12, p. 2601-2609 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Osteopetrosis 100%
  • Pamidronate 97%
  • Osteoclasts 71%
  • Bone Remodeling 71%
  • Osteosclerosis 52%
  11 Scopus citations
• 2013

  Easier to swallow: Pictorial review of structural findings of the pharynx at barium pharyngography

  Tao, T. Y., Menias, C. O., Herman, T. E., McAlister, W. H. & Balfe, D. M., Nov 2013, In: Radiographics. 33, 7, p. E189-E208

  Research output: Contribution to journal › Article › peer-review

  • Barium 100%
  • Pharynx 89%
  • Laryngectomy 72%
  • Anatomy 70%
  • Deglutition Disorders 58%
  17 Scopus citations

• Juvenile Paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation

  Saki, F., Karamizadeh, Z., Nasirabadi, S., Mumm, S., McAlister, W. H. & Whyte, M. P., Jun 2013, In: Journal of Bone and Mineral Research. 28, 6, p. 1501-1508 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hyperostosis corticalis deformans juvenilis 100%
  • Vitamin D Deficiency 58%
  • Osteoprotegerin 47%
  • Mutation 29%
  • Pamidronate 20%
  23 Scopus citations

• Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

  Otero, J. E., Gottesman, G. S., McAlister, W. H., Mumm, S., Madson, K. L., Kiffer-Moreira, T., Sheen, C., Millán, J. L., Ericson, K. L. & Whyte, M. P., Feb 2013, In: Journal of Bone and Mineral Research. 28, 2, p. 419-430 12 p.

  Research output: Contribution to journal › Review article › peer-review

  • Arterial calcification of infancy 100%
  • Etidronic Acid 81%
  • Osteosclerosis 18%
  • Osteopetrosis 17%
  • Joints 17%
  57 Scopus citations
• 2012

  Enzyme-replacement therapy in life-threatening hypophosphatasia

  Whyte, M. P., Greenberg, C. R., Salman, N. J., Bober, M. B., McAlister, W. H., Wenkert, D., Van Sickle, B. J., Simmons, J. H., Edgar, T. S., Bauer, M. L., Hamdan, M. A., Bishop, N., Lutz, R. E., McGinn, M., Craig, S., Moore, J. N., Taylor, J. W., Cleveland, R. H., Cranley, W. R., Lim, R., & 7 othersThacher, T. D., Mayhew, J. E., Downs, M., Millán, J. L., Skrinar, A. M., Crine, P. & Landy, H., Mar 8 2012, In: New England Journal of Medicine. 366, 10, p. 904-913 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • asfotase alfa 100%
  • Hypophosphatasia 80%
  • Enzyme Replacement Therapy 65%
  • Rickets 39%
  • Isoenzymes 30%
  397 Scopus citations
• 2011

  COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

  Lindahl, K., Barnes, A. M., Fratzl-Zelman, N., Whyte, M. P., Hefferan, T. E., Makareeva, E., Brusel, M., Yaszemski, M. J., Rubin, C. J., Kindmark, A., Roschger, P., Klaushofer, K., Mcalister, W. H., Mumm, S., Leikin, S., Kessler, E., Boskey, A. L., Ljunggren, Ö. & Marini, J. C., Jun 2011, In: Human mutation. 32, 6, p. 598-609 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Osteogenesis Imperfecta 100%
  • Bone and Bones 44%
  • Mutation 42%
  • Physiologic Calcification 32%
  • Collagen Type I 25%
  113 Scopus citations

• Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)

  Wenkert, D., McAlister, W. H., Coburn, S. P., Zerega, J. A., Ryan, L. M., Ericson, K. L., Hersh, J. H., Mumm, S. & Whyte, M. P., Oct 2011, In: Journal of Bone and Mineral Research. 26, 10, p. 2389-2398 10 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Hypophosphatasia 100%
  • N-(4'-fluorobutyrophenone)-4-(4-chlorophenyl)pyridinium 95%
  • Isoenzymes 28%
  • Alkaline Phosphatase 25%
  • Crowding 15%
  104 Scopus citations
• 2010

  Dysosteosclerosis presents as an "Osteoclast-Poor" form of osteopetrosis: Comprehensive investigation of a 3-year-old girl and literature review

  Whyte, M. P., Wenkert, D., McAlister, W. H., Novack, D. V., Nenninger, A. R., Zhang, X., Huskey, M. & Mumm, S., Nov 2010, In: Journal of Bone and Mineral Research. 25, 11, p. 2527-2539 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Mild autosomal recessive form Osteopetrosis 100%
  • Dysosteosclerosis 95%
  • Osteopetrosis 64%
  • Osteoclasts 34%
  • Metabolic Bone Diseases 24%
  28 Scopus citations

• Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

  Whyte, M. P., Kempa, L. G., McAlister, W. H., Zhang, F., Mumm, S. & Wenkert, D., Nov 2010, In: Journal of Bone and Mineral Research. 25, 11, p. 2515-2526 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Osteopetrosis 100%
  • Chloride Channels 87%
  • Aspartate Aminotransferases 70%
  • L-Lactate Dehydrogenase 69%
  • Isoenzymes 69%
  38 Scopus citations
• 2009

  Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia

  Whyte, M. P., Wenkert, D., McAlister, W. H., Mughal, M. Z., Freemont, A. J., Whitehouse, R., Baildam, E. M., Coburn, S. P., Ryan, L. M. & Mumm, S., Aug 2009, In: Journal of Bone and Mineral Research. 24, 8, p. 1493-1505 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Childhood Hypophosphatasia 100%
  • Chronic recurrent multifocal osteomyelitis 83%
  • Isoenzymes 50%
  • Hypophosphatasia 47%
  • Nociceptive Pain 26%
  62 Scopus citations
• 2008

  Adenomyotic cyst of the uterus in an adolescent

  Ho, M. L., Raptis, C., Hulett, R., McAlister, W. H., Moran, K. & Bhalla, S., Nov 2008, In: Pediatric radiology. 38, 11, p. 1239-1242 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Adenomyosis 100%
  • Uterus 67%
  • Cysts 62%
  • Surgical Pathology 30%
  • Myometrium 28%
  25 Scopus citations

• Bisphosphonate-induced osteopetrosis: Novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases

  Whyte, M. P., McAlister, W. H., Novack, D. V., Clements, K. L., Schoenecker, P. L. & Wenkert, D., Oct 2008, In: Journal of Bone and Mineral Research. 23, 10, p. 1698-1707 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Osteosclerosis 100%
  • Osteopetrosis 95%
  • Diphosphonates 72%
  • Metabolic Bone Diseases 72%
  • Pamidronate 39%
  82 Scopus citations
• 2007

  Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy

  Wenkert, D., Mumm, S., Wiegand, S. M., McAlister, W. H. & Whyte, M. P., Sep 2007, In: Clinical orthopaedics and related research. 462, p. 80-86 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Essential Osteolysis 100%
  • Osteolysis hereditary multicentric 75%
  • Matrix Metalloproteinase 2 66%
  • Wrist 35%
  • Mutation 33%
  9 Scopus citations

• CT manifestations of ileal dysgenesis

  Oberhelman, A. P., Herman, T. E., McAlister, W. H., Keating, J. P., Rollins, M. D. & Dillon, P. A., Feb 2007, In: Pediatric radiology. 37, 2, p. 209-212 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Vitelline Duct 100%
  • Protein-Losing Enteropathies 86%
  • Iron-Deficiency Anemias 68%
  • Ileum 59%
  • Radiologists 53%
  5 Scopus citations

• Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

  Mumm, S., Wenkert, D., Zhang, X., McAlister, W. H., Mier, R. J. & Whyte, M. P., Feb 2007, In: Journal of Bone and Mineral Research. 22, 2, p. 243-250 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Buschke-Ollendorff syndrome 100%
  • Osteopoikilosis 92%
  • Melorheostosis 91%
  • Germ-Line Mutation 58%
  • Melorheostosis with Osteopoikilosis 21%
  53 Scopus citations