Matalon DR - Search Results

1

Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity.

Peck SH, Lau YK, Kang JL, Lin M, Arginteanu T, Matalon DR, Bendigo JR, O'Donnell P, Haskins ME, Casal ML, Smith LJ. Peck SH, et al. Among authors: matalon dr. Mol Genet Metab. 2021 Aug;133(4):378-385. doi: 10.1016/j.ymgme.2021.06.005. Epub 2021 Jun 15. Mol Genet Metab. 2021. PMID: 34154922 Free PMC article.

2

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study.

Ficicioglu C, Matalon DR, Luongo N, Menello C, Kornafel T, Degnan AJ. Ficicioglu C, et al. Among authors: matalon dr. Orphanet J Rare Dis. 2020 Nov 30;15(1):336. doi: 10.1186/s13023-020-01618-y. Orphanet J Rare Dis. 2020. PMID: 33256811 Free PMC article.

3

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.

Matalon DR, Stevenson DA, Bhoj EJ, Santani AB, Keena B, Cohen MS, Lin AE, Sheppard SE, Zackai EH. Matalon DR, et al. Am J Med Genet A. 2021 May;185(5):1486-1493. doi: 10.1002/ajmg.a.62146. Epub 2021 Mar 8. Am J Med Genet A. 2021. PMID: 33683002 Free PMC article.

4

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.

Matalon DR, Bhoj EJ, Li D, McDougall C, Schindewolf E, Khalek N, Wilkens A, McManus M, Deardorff MA, Zackai EH. Matalon DR, et al. Am J Med Genet A. 2023 Apr;191(4):977-982. doi: 10.1002/ajmg.a.63105. Epub 2023 Jan 6. Am J Med Genet A. 2023. PMID: 36610046

5

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, Reis A, Santani A, Sticht H, Abou Jamra R. Buchert R, et al. Among authors: matalon dr. Orphanet J Rare Dis. 2016 Sep 29;11(1):130. doi: 10.1186/s13023-016-0509-9. Orphanet J Rare Dis. 2016. PMID: 27683084 Free PMC article.

6

Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.

Tise CG, Matalon DR, Manning MA, Byers HM, Grover M. Tise CG, et al. Among authors: matalon dr. J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221101844. doi: 10.1177/23247096221101844. J Investig Med High Impact Case Rep. 2022. PMID: 35638718 Free PMC article.

7

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.

Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R; Undiagnosed Diseases Network; Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G. Deisseroth CA, et al. Among authors: matalon dr. Genet Med. 2019 Jul;21(7):1585-1593. doi: 10.1038/s41436-018-0381-1. Epub 2018 Dec 5. Genet Med. 2019. PMID: 30514889 Free PMC article.

8

De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.

Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH. Bina R, et al. J Med Genet. 2020 Jul;57(7):461-465. doi: 10.1136/jmedgenet-2019-106193. Epub 2020 Jan 10. J Med Genet. 2020. PMID: 31924697 Free PMC article.

9

Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.

Morales JA, Valenzuela I, Cuscó I, Cogné B, Isidor B, Matalon DR, Gomez-Ospina N. Morales JA, et al. Among authors: matalon dr. Am J Med Genet A. 2022 May;188(5):1396-1406. doi: 10.1002/ajmg.a.62648. Epub 2022 Jan 12. Am J Med Genet A. 2022. PMID: 35018708

10

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B. Cuinat S, et al. Genet Med. 2022 Aug;24(8):1774-1780. doi: 10.1016/j.gim.2022.04.011. Epub 2022 May 14. Genet Med. 2022. PMID: 35567594 Free article.

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