MahimJainMD

PubMed

• Hereditary Connective Tissue Diseases and Risk of Post-Acute SARS-CoV-2.
  Maggie L Bartlett, Daniel Sova, Mahim Jain> ;Viruses. 2024 Mar 17
• The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.
  Daniah Albokhari, Ohood Alharbi, Alyssa Blesson, Mahim Jain> ;Cold Spring Harbor Molecular Case Studies. 2023 Dec 1
• 2 citations
  HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
  Eva Niggl, Arjan Bouman, Lauren C Briere, Remco M Hoogenboezem, Ilse Wallaard, Joohyun Park, Jakob Admard, Martina Wilke, Emilio D R O Harris-Mostert, Minetta Elgersma...> ;American Journal of Human Genetics. 2023 Aug 3
• 13 citations
  The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
  Dong Li, Rebecca C. Ahrens-Nicklas, Janice Baker, Vikas Bhambhani, Amy Calhoun, Julie S. Cohen, Matthew A. Deardorff, Alberto Fernández-Jaén, Benjamin Kamien, Mahim Ja...> ;American Journal of Medical Genetics. Part A. 2020 Jul 20
• 120 citations
  AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
  Vincenzo Salpietro, Christine L Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stéphanie Valence, E...> ;Nature Communications. 2019 Jul 12
• Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
  Burrage, L. C.,Reynolds, J. J.,Baratang, N. V.,Phillips, J. B.,Wegner, J.,McFarquhar, A.,Higgs, M. R.,Christiansen, A. E.,Lanza, D. G.,Seavitt, J. R.,Jain, M.,Li, X.,P...> ;Am. J. Hum. Genet.. 2019 Feb 19
• Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
  Emrick, L. T.,Rosenfeld, J. A.,Lalani, S. R.,Jain, M.,Desai, N. K.,Larson, A.,Kripps, K.,Vanderver, A.,Taft, R. J.,Bluske, K.,Perry, D.,Nagakura, H.,Immken, L. L.,Burr...> ;Genet. Med.. 2018 Dec 21
• Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
  Ng, B. G.,Rosenfeld, J. A.,Emrick, L.,Jain, M.,Burrage, L. C.,Lee, B.,Craigen, W. J.,Bearden, D. R.,Graham, B. H.,Freeze, H. H.> ;Am. J. Hum. Genet.. 2018 Dec 07
• HASH(0x24f4e60)
  Jin, Z.,Burrage, L. C.,Jiang, M. M.,Lee, Y. C.,Bertin, T.,Chen, Y.,Tran, A.,Gibbs, R. A.,Jhangiani, S.,Sutton, V. R.,Rauch, F.,Lee, B.,Jain, M.> ;JBMR Plus. 2018 Oct 05
• Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.
  Jain, M.,Tam, A.,Shapiro, J. R.,Steiner, R. D.,Smith, P. A.,Bober, M. B.,Hart, T.,Cuthbertson, D.,Krischer, J.,Mullins, M.,Bellur, S.,Byers, P. H.,Pepin, M.,Durigova, ...> ;Genet. Med.. 2018 Jul 05
• Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1 Variants
  Lisa Emrick, Mahim Jain, R Curtis Rogers, Elaine H Zackai, David B Everman, Elizabeth R Roeder> ;Nature. 1900 Jan 01
• Neonatal Fractures as a Presenting Feature of LMOD3-Associated Congenital Myopathy
  Mahim Jain, Brendan Lee, Yuqing Chen, Megan Abbott, Rachel Pferdehirt, Ronit Marom, Lindsay C Burrage> ;American Journal of Medical Genetics Part A. 2017 Aug 18
• Heterozygous Variants in ACTL6A, Encoding a Component of the BAF Complex, Are Associated with Intellectual Disability
  Ralitza H. Gavrilova, Ronit Marom, Chester W. Brown, Mahim Jain, Marwan Shinawi, Christine Eng, Yuqing Chen> ;Human Mutation. 2017 Jun 27
• Asprosin, a Fasting-Induced Glucogenic Protein Hormone.
  Romere, C.,Duerrschmid, C.,Bournat, J.,Constable, P.,Jain, M.,Xia, F.,Saha, P. K.,Del Solar, M.,Zhu, B.,York, B.,Sarkar, P.,Rendon, D. A.,Gaber, M. W.,LeMaire, S. A.,C...> ;Cell. 2016 Apr 19
• Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome.
  Lalani, S. R.,Zhang, J.,Schaaf, C. P.,Brown, C. W.,Magoulas, P.,Tsai, A. C.,El-Gharbawy, A.,Wierenga, K. J.,Bartholomew, D.,Fong, C. T.,Barbaro-Dieber, T.,Kukolich, M....> ;Am. J. Hum. Genet.. 2014 Dec 03
• Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.
  Burrage, L. C.,Jain, M.,Gandolfo, L.,Lee, B. H.,Nagamani, S. C.> ;Mol. Genet. Metab.. 2014 Jul 22
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