Research output per year
Research output per year
- 1 - 50 out of 366 results
Search results
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2025
Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)
Mumm, S., Paz-Ibarra, J. L., Campeau, P. M., Garrido-Carrasco, E., Baker, J., Pino-Nina, E., Duan, S., McAlister, W. H. & Whyte, M., Aug 2025, In: Bone. 197, 117477.Research output: Contribution to journal › Article › peer-review
Open Access -
2024
Pediatric hypophosphatasia: avoid diagnosis missteps!
Whyte, M., McAlister, W. H., Mack, K. E., Mumm, S. & Madson, K. L., Jun 2024, In: Journal of Bone and Mineral Research. 39, 6, p. 655-660 6 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder
Whyte, M. P., Weinstein, R. S., Phillips, P. H., McAlister, W. H., Ramakrishnaiah, R. H., Schaefer, G. B., Cai, R., Hutchison, M. R., Duan, S., Gottesman, G. S. & Mumm, S., Nov 2024, In: Bone. 188, 117218.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
2023
Drug-induced osteopetrosis
Whyte, M. P., McAlister, W. H., Dhiman, V., Gopinathan, N. R. & Bhadada, S. K., Aug 2023, In: Bone. 173, 116788.Research output: Contribution to journal › Article › peer-review
8 Scopus citations -
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
Open Access2 Scopus citations -
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
9 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
23 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
10 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
Open Access20 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
14 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
Open Access13 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
Open Access19 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., May 19 2020, In: JBJS case connector. 10, 2, p. E0454Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
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
9 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
Open Access4 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
Open Access100 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
14 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
41 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
13 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
Open Access10 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 Access28 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
17 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 Access7 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 Access37 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
Open Access34 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
Open Access39 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
Open Access22 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 Access135 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
Open Access12 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
Open Access51 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 Access21 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
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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
208 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
Open Access19 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 Access22 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
Open Access1 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
Open Access44 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
Open Access37 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
Open Access18 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
Open Access11 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-E208Research output: Contribution to journal › Article › peer-review
19 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 Access25 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
75 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 others, , 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 Access461 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 Access122 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 Access117 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
Open Access35 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 Access42 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 Access67 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
31 Scopus citations