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S. Mumm · SciRah

Researcher profile · Semantic Scholar

S. Mumm

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S. Mumm — researcher profile on SciRah

h-index: 43
Works: 172
Citations: 7,354

Most-cited papers

Acute coronary syndrome
Hubert Scharnagl, W. März, Markus Böhm, T. Luger +166 more
2020Acute coronary syndromes268 citations Open access
Semantic Scholar
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
M. Whyte, Fan Zhang, D. Wenkert, W. Mcalister +7 more
2015Bone245 citations
Semantic Scholar
“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia
Roger A. L. Sutton, S. Mumm, S. P. Coburn, K. Ericson +1 more
2012Journal of Bone and Mineral Research189 citations Open access
Semantic Scholar
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
V. Kimonis, S. Mehta, Erin C. Fulchiero, D. Thomasová +11 more
2008American Journal of Medical Genetics. Part A173 citations Open access
Semantic Scholar
Adult hypophosphatasia treated with teriparatide.
M. Whyte, S. Mumm, C. Deal
2007Journal of Clinical Endocrinology and Metabolism156 citations Open access
Semantic Scholar
Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
S. Baumgartner-Sigl, E. Haberlandt, S. Mumm, S. Scholl-Bürgi +5 more
2007Bone153 citations
Semantic Scholar
Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)
D. Wenkert, W. Mcalister, S. Coburn, J. Zerega +5 more
2011Journal of Bone and Mineral Research135 citations Open access
Semantic Scholar
COL1 C-propeptide Cleavage Site Mutations Cause High Bone Mass Osteogenesis Imperfecta
K. Lindahl, Aileen M. Barnes, N. Fratzl-Zelman, Michael P. Whyte +15 more
2011Human Mutation131 citations Open access
Semantic Scholar
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Philippe M. Campeau, James T. Lu, G. Sule, Ming-Ming Jiang +8 more
2012Human Molecular Genetics86 citations Open access
Semantic Scholar
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy
Jesse E. Otero, G. Gottesman, W. Mcalister, S. Mumm +6 more
2013Journal of Bone and Mineral Research85 citations Open access
Semantic Scholar
Andersen-Tawil syndrome
H. Scharnagl, W. März, M. Böhm, T. Luger +166 more
2020Definitions75 citations Open access
Semantic Scholar
Calcific Periarthritis as the Only Clinical Manifestation of Hypophosphatasia in Middle‐Aged Sisters
N. Guañabens, S. Mumm, I. Möller, E. González-Roca +3 more
2014Journal of Bone and Mineral Research74 citations Open access
Semantic Scholar
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia.
C. Gagnon, N. Sims, S. Mumm, S. A. McAuley +4 more
2010Journal of Clinical Endocrinology and Metabolism68 citations
Semantic Scholar
Chronic Recurrent Multifocal Osteomyelitis Mimicked in Childhood Hypophosphatasia
Michael P. Whyte, D. Wenkert, W. Mcalister, M. Z. Mughal +6 more
2009Journal of Bone and Mineral Research67 citations Open access
Semantic Scholar
Aromatic L-amino acid decarboxylase deficiency
H. Scharnagl, W. März, M. Böhm, T. Luger +166 more
2020Definitions66 citations Open access
Semantic Scholar
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
Voraluck Phatarakijnirund, S. Mumm, W. Mcalister, D. Novack +3 more
2015Bone58 citations Open access
Semantic Scholar
ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.
P. Camacho, A. Mazhari, Cory Wilczynski, R. Kadanoff +2 more
2016Endocrine Practice54 citations
Semantic Scholar
Camurati-Engelmann Disease: Unique Variant Featuring a Novel Mutation in TGFβ1 Encoding Transforming Growth Factor Beta 1 and a Missense Change in TNFSF11 Encoding RANK Ligand
M. Whyte, W. Totty, D. Novack, Xia-Fang Zhang +2 more
2010Journal of Bone and Mineral Research51 citations Open access
Semantic Scholar
Fibrodysplasia ossificans progressiva: Middle‐age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1
Michael P. Whyte, D. Wenkert, Jennifer L. Demertzis, Edward F. Dicarlo +2 more
2012Journal of Bone and Mineral Research49 citations
Semantic Scholar
Juvenile Paget's Disease: The Second Reported, Oldest Patient Is Homozygous for the TNFRSF11B “Balkan” Mutation (966_969delTGACinsCTT), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels
Michael P. Whyte, Panagiotis N. Singhellakis, Michael B. Petersen, Michael Davies +2 more
2007Journal of Bone and Mineral Research45 citations
Semantic Scholar
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
Michael P. Whyte, W. Mcalister, Michael D. Fallon, M. Pierpont +5 more
2017Journal of Bone and Mineral Research44 citations
Semantic Scholar
New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.
M. Whyte, W. Mcalister, Fan Zhang, Vinieth N. Bijanki +7 more
2019Bone43 citations
Semantic Scholar
Multicentric Carpotarsal Osteolysis Syndrome is Caused by Only a Few Domain-Specific Mutations in MAFB, a Negative Regulator of RANKL-Induced Osteoclastogenesis
S. Mumm, M. Huskey, S. Duan, D. Wenkert +6 more
2014American Journal of Medical Genetics. Part A43 citations Open access
Semantic Scholar
Juvenile Paget’s Disease With Heterozygous Duplication In TNFRSF11A Encoding RANK
M. Whyte, C. Tau, W. Mcalister, Xia-Fang Zhang +4 more
2014Bone43 citations Open access
Semantic Scholar
Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers‐Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders
Michael P. Whyte, Lydia G. Kempa, W. Mcalister, Fan Zhang +2 more
2010Journal of Bone and Mineral Research43 citations Open access
Semantic Scholar
Melorheostosis: Exome Sequencing Of An Associated Dermatosis Implicates Postzygotic Mosaicism Of Mutated KRAS
M. Whyte, M. Griffith, L. Trani, S. Mumm +13 more
2017Bone42 citations Open access
Semantic Scholar
Adenine phosphoribosyltransferase deficiency
Hubert Scharnagl, W. März, M. Böhm, T. Luger +166 more
2020Definitions41 citations Open access
Semantic Scholar
Dysosteosclerosis Presents as an “Osteoclast-Poor” Form of Osteopetrosis: Comprehensive Investigation of a 3-Year-Old Girl and Literature Review
M. Whyte, D. Wenkert, W. Mcalister, D. Novack +4 more
2010Journal of Bone and Mineral Research37 citations Open access
Semantic Scholar
Pregnancy‐Associated Osteoporosis With a Heterozygous Deactivating LDL Receptor‐Related Protein 5 (LRP5) Mutation and a Homozygous Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism
F. Cook, S. Mumm, Michael P. Whyte, D. Wenkert
2014Journal of Bone and Mineral Research35 citations Open access
Semantic Scholar
Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.
M. Yadegari, M. Whyte, S. Mumm, R. Phelps +3 more
2010Archives of Dermatology35 citations Open access
Semantic Scholar
Skeletal Fluorosis Due To Inhalation Abuse Of A Difluoroethane-Containing Computer Cleaner
Joseph R. Tucci, G. M. Whitford, W. Mcalister, Deborah V. Novack +3 more
2016Journal of Bone and Mineral Research31 citations Open access
Semantic Scholar
Juvenile Paget’s Disease In An Iranian Kindred With Vitamin D Deficiency And Novel Homozygous TNFRSF11B Mutation
Forough Saki, Z. Karamizadeh, Shiva Nasirabadi, S. Mumm +2 more
2013Journal of Bone and Mineral Research30 citations Open access
Semantic Scholar
Non-Endemic Skeletal Fluorosis: Causes And Associated Secondary Hyperparathyroidism (Case Report and Literature Review)
F. Cook, Maighan Seagrove-Guffey, S. Mumm, D. Veis +4 more
2021Bone29 citations Open access
Semantic Scholar
Neonatal High Bone Mass With First Mutation Of The NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)
A. Frederiksen, Martin J. Larsen, K. Brusgaard, Deborah V. Novack +9 more
2015Journal of Bone and Mineral Research29 citations Open access
Semantic Scholar
Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.
D. Stevenson, J. Carey, S. Coburn, K. Ericson +3 more
2008Journal of Clinical Endocrinology and Metabolism29 citations Open access
Semantic Scholar
Bruck Syndrome 2 Variant Lacking Congenital Contractures And Involving A Novel Compound Heterozygous PLOD2 Mutation
S. Mumm, G. Gottesman, D. Wenkert, Philippe M. Campeau +10 more
2019Bone26 citations Open access
Semantic Scholar
High Bone Mass From Mutation Of Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6).
M. Brance, L. Brun, N. Cóccaro, Andrés Aravena +3 more
2020Bone24 citations Open access
Semantic Scholar
PHEX 3′‐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
S. Mumm, M. Huskey, Adela Čajić, Valerie Wollberg +6 more
2015Journal of Bone and Mineral Research24 citations
Semantic Scholar
Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK
Anne L. Schafer, S. Mumm, I. El-Sayed, W. Mcalister +8 more
2014Journal of Bone and Mineral Research23 citations Open access
Semantic Scholar
Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure.
M. Whyte, R. Leelawattana, W. R. Reinus, Chang Yang +2 more
2013Journal of Clinical Endocrinology and Metabolism23 citations Open access
Semantic Scholar
Effects of Polymorphisms of the Sex Hormone-Binding Globulin (SHBG) Gene on Free Estradiol and Bone Mineral Density
N. Napoli, Ana Varadharajan, G. Rini, Romano Del Fiacco +4 more
2009Bone23 citations Open access
Semantic Scholar
ATRAID regulates the action of nitrogen-containing bisphosphonates on bone
Lauren E. Surface, Damon T. Burrow, Jinmei Li, Jiwoong Park +34 more
2020Science Translational Medicine22 citations Open access
Semantic Scholar
Hyperphosphatemia With Low FGF7 and Normal FGF23 and sFRP4 Levels In The Circulation Characterizes Pediatric Hypophosphatasia
M. Whyte, Fan Zhang, D. Wenkert, S. Mumm +2 more
2020Bone22 citations Open access
Semantic Scholar
Lenz‐Majewski Hyperostotic Dwarfism with Hyperphosphoserinuria from a Novel Mutation in PTDSS1 Encoding Phosphatidylserine Synthase 1
Michael P. Whyte, A. Blythe, W. Mcalister, Angela R. Nenninger +2 more
2015Journal of Bone and Mineral Research22 citations Open access
Semantic Scholar
Juvenile Paget’s Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor Sp7)
M. Whyte, Philippe M. Campeau, W. Mcalister, G. Roodman +8 more
2020Bone20 citations Open access
Semantic Scholar
Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.
M. Whyte, S. Deepak Amalnath, W. Mcalister, Radhakrishna Pedapati +5 more
2018Bone19 citations
Semantic Scholar
The Val432Leu polymorphism of the CYP1B1 gene is associated with differences in estrogen metabolism and bone density
N. Napoli, G. Rini, Daniel W. Serber, T. Giri +8 more
2008Bone19 citations Open access
Semantic Scholar
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?
Michael P. Whyte, S. D. Amalnath, W. Mcalister, M. McKee +6 more
2019Bone17 citations Open access
Semantic Scholar
Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health.
Elizabeth L Lin, G. Gottesman, W. Mcalister, Vinieth N. Bijanki +4 more
2020Bone16 citations
Semantic Scholar
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology
Federica Scotto di Carlo, L. Pazzaglia, S. Mumm, M. Benassi +7 more
2020Journal of Bone and Mineral Research16 citations Open access
Semantic Scholar

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Michael P. Whyte×20
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