Research output per year
Research output per year
- 1 - 50 out of 54 results
Search results
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2024
Burosumab vs conventional therapy in children with X-linked hypophosphatemia: Results of the open-label, phase 3 extension period
Ward, L. M., Högler, W., Glorieux, F. H., Portale, A. A., Whyte, M. P., Munns, C. F., Nilsson, O., Simmons, J. H., Padidela, R., Namba, N., Cheong, H. I., Sochett, E., Muroya, K., Tanaka, H., Pitukcheewanont, P., Gottesman, G. S., Biggin, A., Perwad, F., Chen, A. & Lawrence Merritt, J. & 1 others, , Jan 2024, In: JBMR Plus. 8, 1, ziad001.Research output: Contribution to journal › Article › peer-review
Open Access -
Inflammatory myofibroblastic tumor in a patient with X-Linked hypophosphatemia: A case of Occam's razor or Hickam's dictum?
Chowdry, F., Miller, K. M., Altun, E., Wobker, S. E., Gottesman, G. S., Al-Ahmadie, H., Rose, T. L., Wallen, E. M. & Milowsky, M. I., May 2024, In: Urology Case Reports. 54, 102710.Research output: Contribution to journal › Article › peer-review
Open Access -
Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B6 metabolism
Whyte, M., Zhang, F., Mack, K. E., Wenkert, D., Gottesman, G. S., Ericson, K. L., Cole, J. T. & Coburn, S. P., Apr 2024, In: Bone. 181, 117033.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
2023
Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level
Imel, E. A., Glorieux, F. H., Whyte, M. P., Portale, A. A., Munns, C. F., Nilsson, O., Simmons, J. H., Padidela, R., Namba, N., Cheong, H. I., Pitukcheewanont, P., Sochett, E., Högler, W., Muroya, K., Tanaka, H., Gottesman, G. S., Biggin, A., Perwad, F., Chen, A. & Roberts, M. S. & 1 others, , Nov 1 2023, In: Journal of Clinical Endocrinology and Metabolism. 108, 11, p. 2990-2998 9 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Diagnosing X-Linked Hypophosphatemia in Children: The Missing Element
Gottesman, G. S., Jan 2023, In: Clinical Pediatrics. 62, 1, p. 81 1 p.Research output: Contribution to journal › Letter › peer-review
1 Scopus citations -
Predicting Rates of Angular Correction after Hemiepiphysiodesis in Patients with X-Linked Hypophosphatemic Rickets
Grote, C. W., Nepple, J. J., Schoenecker, P. L., Gottesman, G. S., Gordon, J. E. & Miller, M. L., Jul 1 2023, In: Journal of Pediatric Orthopaedics. 43, 6, p. 379-385 7 p.Research output: Contribution to journal › Article › peer-review
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2022
Development of a generalizable multi-site and multi-modality clinical data cloud infrastructure for pediatric patient care
Hornback, A., Shi, W., Giuste, F. O., Zhu, Y., Carpenter, A. M., Hilton, C., Bijanki, V. N., Stahl, H., Gottesman, G. S., Purnell, C., Iwinski, H. J., Wattenbarger, J. M. & Wang, M. D., Aug 7 2022, Proceedings of the 13th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics, BCB 2022. Association for Computing Machinery, Inc, 23. (Proceedings of the 13th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics, BCB 2022).Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review
Open Access4 Scopus citations -
Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia
Ward, L. M., Glorieux, F. H., Whyte, M. P., Munns, C. F., Portale, A. A., Hogler, W., Simmons, J. H., Gottesman, G. S., Padidela, R., Namba, N., Cheong, H. I., Nilsson, O., Mao, M., Chen, A., Skrinar, A., Roberts, M. S. & Imel, E. A., Aug 1 2022, In: Journal of Clinical Endocrinology and Metabolism. 107, 8, p. E3241-E3253Research output: Contribution to journal › Article › peer-review
Open Access41 Scopus citations -
Health Care Transition from Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus
Dahir, K., Dhaliwal, R., Simmons, J., Imel, E. A., Gottesman, G. S., Mahan, J. D., Prakasam, G., Hoch, A. I., Ramesan, P. & Díaz-González De Ferris, M., Mar 1 2022, In: Journal of Clinical Endocrinology and Metabolism. 107, 3, p. 599-613 15 p.Research output: Contribution to journal › Review article › peer-review
Open Access16 Scopus citations -
Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children with X-Linked Hypophosphatemia
Linglart, A., Imel, E. A., Whyte, M. P., Portale, A. A., Högler, W., Boot, A. M., Padidela, R., Van't Hoff, W., Gottesman, G. S., Chen, A., Skrinar, A., Scott Roberts, M. & Carpenter, T. O., Mar 1 2022, In: Journal of Clinical Endocrinology and Metabolism. 107, 3, p. 813-824 12 p.Research output: Contribution to journal › Article › peer-review
Open Access53 Scopus citations -
X-Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women
Dahir, K. M. C., Black, M., Gottesman, G. S., Imel, E. A., Mumm, S., Nichols, C. M. & Whyte, M. P., Dec 2022, In: JBMR Plus. 6, 12, e10692.Research output: Contribution to journal › Article › peer-review
Open Access5 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
8 Scopus citations -
Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia
Padidela, R., Whyte, M. P., Glorieux, F. H., Munns, C. F., Ward, L. M., Nilsson, O., Portale, A. A., Simmons, J. H., Namba, N., Cheong, H. I., Pitukcheewanont, P., Sochett, E., Högler, W., Muroya, K., Tanaka, H., Gottesman, G. S., Biggin, A., Perwad, F., Williams, A. & Nixon, A. & 4 others, , May 2021, In: Calcified Tissue International. 108, 5, p. 622-633 12 p.Research output: Contribution to journal › Article › peer-review
Open Access31 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
9 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 Access17 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
13 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 Access17 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
7 Scopus citations -
X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′-UTR Mutation c.*231A>G (A Retrospective Case–Control Study)
Smith, P. S., Gottesman, G. S., Zhang, F., Cook, F., Ramirez, B., Wenkert, D., Wollberg, V., Huskey, M., Mumm, S. & Whyte, M. P., May 1 2020, In: Journal of Bone and Mineral Research. 35, 5, p. 920-931 12 p.Research output: Contribution to journal › Article › peer-review
12 Scopus citations -
2019
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial
Imel, E. A., Glorieux, F. H., Whyte, M. P., Munns, C. F., Ward, L. M., Nilsson, O., Simmons, J. H., Padidela, R., Namba, N., Cheong, H. I., Pitukcheewanont, P., Sochett, E., Högler, W., Muroya, K., Tanaka, H., Gottesman, G. S., Biggin, A., Perwad, F., Mao, M. & Chen, C. Y. & 3 others, , Jun 15 2019, In: The Lancet. 393, 10189, p. 2416-2427 12 p.Research output: Contribution to journal › Article › peer-review
Open Access251 Scopus citations -
Efficacy and safety of burosumab in children aged 1–4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial
Whyte, M. P., Carpenter, T. O., Gottesman, G. S., Mao, M., Skrinar, A., San Martin, J. & Imel, E. A., Mar 2019, In: The Lancet Diabetes and Endocrinology. 7, 3, p. 189-199 11 p.Research output: Contribution to journal › Article › peer-review
127 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
39 Scopus citations -
2018
Fibrillinopathies: Skeletal manifestations of marfan syndrome and marfan-related conditions
Gottesman, G. S. & Whyte, M. P., Jan 1 2018, Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. wiley, p. 878-885 8 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review
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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 Access25 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 -
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 Access33 Scopus citations -
2016
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 Access11 Scopus citations -
2015
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 -
2014
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 -
2013
Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels
Dũng, V. C., Tomatsu, S., Montaño, A. M., Gottesman, G., Bober, M. B., Mackenzie, W., Maeda, M., Mitchell, G. A., Suzuki, Y. & Orii, T., Sep 2013, In: Molecular genetics and metabolism. 110, 1-2, p. 129-138 10 p.Research output: Contribution to journal › Article › peer-review
59 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
74 Scopus citations -
2011
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A
Hisama, F. M., Lessel, D., Leistritz, D., Friedrich, K., Mcbride, K. L., Pastore, M. T., Gottesman, G. S., Saha, B., Martin, G. M., Kubisch, C. & Oshima, J., Dec 2011, In: American Journal of Medical Genetics, Part A. 155, 12, p. 3002-3006 5 p.Research output: Contribution to journal › Article › peer-review
Open Access53 Scopus citations -
Mystery solved: The evolution of diagnostic abilities in genetic testing.
Gottesman, G. S. & Batanian, J. R., Jan 2011, In: JAAPA : official journal of the American Academy of Physician Assistants. 24, 1, p. 57-58 2 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
2010
Newborn screening tests in the 21st century: what PAs need to know.
DelRosario, G. & Gottesman, G. S., Apr 2010, In: JAAPA : official journal of the American Academy of Physician Assistants. 23, 4, p. 30-35 6 p.Research output: Contribution to journal › Review article › peer-review
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The genetics encounter: different from the typical clinic visit.
Gottesman, G. S., Mar 2010, In: JAAPA : official journal of the American Academy of Physician Assistants. 23, 3, p. 70 1 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
2009
Newborn metabolic screening and related pitfalls.
Eddy, M. & Gottesman, G. S., 2009, In: Missouri Medicine. 106, 3, p. 234-240 7 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
2007
International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
Montaño, A. M., Tomatsu, S., Gottesman, G. S., Smith, M. & Orii, T., Apr 2007, In: Journal of Inherited Metabolic Disease. 30, 2, p. 165-174 10 p.Research output: Contribution to journal › Article › peer-review
274 Scopus citations -
2006
Enhancement of drug delivery to bone: Characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide
Nishioka, T., Tomatsu, S., Gutierrez, M. A., Miyamoto, K. I., Trandafirescu, G. G., Lopez, P. L. C., Grubb, J. H., Kanai, R., Kobayashi, H., Yamaguchi, S., Gottesman, G. S., Cahill, R., Noguchi, A. & Sly, W. S., Jul 2006, In: Molecular genetics and metabolism. 88, 3, p. 244-255 12 p.Research output: Contribution to journal › Article › peer-review
Open Access70 Scopus citations -
Epimerase-deficiency galactosemia is not a binary condition
Openo, K. K., Schulz, J. M., Vargas, C. A., Orton, C. S., Epstein, M. P., Schnur, R. E., Scaglia, F., Berry, G. T., Gottesman, G. S., Ficicioglu, C., Slonim, A. E., Schroer, R. J., Yu, C., Rangel, V. E., Keenan, J., Lamance, K. & Fridovich-Keil, J. L., Jan 2006, In: American journal of human genetics. 78, 1, p. 89-102 14 p.Research output: Contribution to journal › Article › peer-review
Open Access68 Scopus citations -
2004
The challenges of medical genetics and the primary care practitioner.
Gottesman, G. S., Mar 2004, In: Missouri Medicine. 101, 2, p. 85-86 2 p.Research output: Contribution to journal › Editorial
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2003
Marrow cell transplantation for infantile hypophosphatasia
Whyte, M. P., Kurtzberg, J., McAlister, W. H., Mumm, S., Podgornik, M. N., Coburn, S. P., Ryan, L. M., Miller, C. R., Gottesman, G. S., Smith, A. K., Douville, J., Waters-Pick, B., Armstrong, R. D. & Martin, P. L., Apr 1 2003, In: Journal of Bone and Mineral Research. 18, 4, p. 624-636 13 p.Research output: Contribution to journal › Article › peer-review
Open Access157 Scopus citations -
2001
Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin
Mumm, S., Zhang, X., Gottesman, G. S., McAlister, W. H. & Whyte, M. P., 2001, In: Journal of Bone and Mineral Research. 16, 12, p. 2245-2250 6 p.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations -
2000
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred
Mumm, S., Christie, P. T., Finnegan, P., Jones, J., Dixon, P. H., Pannett, A. A. J., Harding, B., Gottesman, G. S., Thakker, R. V. & Whyte, M. P., 2000, In: Journal of Clinical Endocrinology and Metabolism. 85, 9, p. 3343-3347 5 p.Research output: Contribution to journal › Article › peer-review
20 Scopus citations -
Clinic-based study of plexiform neurofibromas in neurofibromatosis 1
Waggoner, D. J., Towbin, J., Gottesman, G. & Gutmann, D. H., May 15 2000, In: American journal of medical genetics. 92, 2, p. 132-135 4 p.Research output: Contribution to journal › Article › peer-review
114 Scopus citations -
Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting
Batanian, J. R., Huang, Y., Gottesman, G. S., Grange, D. K. & Blasingame, A. V., 2000, In: American journal of medical genetics. 90, 4, p. 276-282 7 p.Research output: Contribution to journal › Article › peer-review
Open Access18 Scopus citations -
1999
Hypertrophic cardiomyopathy in a newborn infant
Gottesman, G. S., Hoffmann, J. W., Vogler, C. & Chen, S. C., 1999, In: Journal of Pediatrics. 134, 1, p. 114-118 5 p.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
X-linked recessive spondyloepiphyseal dysplasia tarda: Clinical and radiographic evolution in a 6-generation kindred and review of the literature
Whyte, M. P., Gottesman, G. S., Eddy, M. C. & Mcalister, W. H., Jan 1999, In: Medicine. 78, 1, p. 9-25 17 p.Research output: Contribution to journal › Article › peer-review
Open Access43 Scopus citations -
1997
Erratum: Metachondromatosis: Report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatric Radiology (1997) 27 (436-331))
Herman, T. E., Chines, A., McAlister, W. H., Gottesman, G. S., Eddy, M. C. & Whyte, M. P., Jan 1 1997, In: Pediatric radiology. 27, 11, 1 p.Research output: Contribution to journal › Comment/debate
3 Scopus citations -
Metachondromatosis: Report of a family with facial features mildly resembling trichorhinophalangeal syndrome
Herman, T. E., Chines, A., McAlister, W. H., Gottesman, G. S., Eddy, M. C. & Whyte, M. P., May 1997, In: Pediatric radiology. 27, 5, p. 436-441 6 p.Research output: Contribution to journal › Article › peer-review
14 Scopus citations -
1990
Characterization of Point Mutations in Type I Collagen by RNA/RNA Hybrid Analysis
MARINI, J. C., GRANGE, D. K., GOTTESMAN, G. S. & LEWIS, M. B., Feb 1990, In: Annals of the New York Academy of Sciences. 580, 1, p. 542-545 4 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations