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Jonathan A. Bernstein, Ph.D. - Publications

Affiliations: 
2003 Stanford University, Palo Alto, CA 
Area:
Microbiology Biology, Genetics
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39 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, et al. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions. Journal of Inherited Metabolic Disease. PMID 32681751 DOI: 10.1002/Jimd.12290  0.323
2020 Birgmeier J, Haeussler M, Deisseroth CA, Steinberg EH, Jagadeesh KA, Ratner AJ, Guturu H, Wenger AM, Diekhans ME, Stenson PD, Cooper DN, Ré C, Beggs AH, Bernstein JA, Bejerano G. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature. Science Translational Medicine. 12. PMID 32434849 DOI: 10.1126/Scitranslmed.Aau9113  0.326
2020 Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, ... ... Bernstein JA, et al. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. American Journal of Human Genetics. PMID 32197074 DOI: 10.1016/J.Ajhg.2020.02.016  0.304
2019 Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, ... ... Bernstein JA, et al. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathologica. PMID 31820119 DOI: 10.1007/S00401-019-02109-6  0.327
2019 Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, et al. Mutation update for the SATB2 gene. Human Mutation. PMID 31021519 DOI: 10.1002/Humu.23771  0.317
2019 Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG, Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashley EA, ... Bernstein JA, et al. A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. Journal of Genetic Counseling. 28: 213-228. PMID 30964584 DOI: 10.1002/Jgc4.1119  0.323
2019 Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y, Mackenzie KM, Eng CM, Fisher PG, ... ... Bernstein JA, et al. Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. American Journal of Medical Genetics. Part A. PMID 30920161 DOI: 10.1002/Ajmg.A.61134  0.327
2018 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, Martinez-Agosto JA, Shashi V, ... ... Bernstein JA, et al. ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30514889 DOI: 10.1038/S41436-018-0381-1  0.322
2018 Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, ... ... Bernstein JA, et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. American Journal of Human Genetics. PMID 30471716 DOI: 10.1016/J.Ajhg.2018.10.019  0.304
2018 Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, ... ... Bernstein JA, et al. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. PMID 30449657 DOI: 10.1016/J.Neuron.2018.10.044  0.331
2018 Jagadeesh KA, Birgmeier J, Guturu H, Deisseroth CA, Wenger AM, Bernstein JA, Bejerano G. Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29997393 DOI: 10.1038/S41436-018-0072-Y  0.314
2018 Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, ... Bernstein JA, et al. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. American Journal of Human Genetics. PMID 29961569 DOI: 10.1016/J.Ajhg.2018.06.005  0.342
2018 Birgmeier J, Esplin ED, Jagadeesh KA, Guturu H, Wenger AM, Chaib H, Buckingham JA, Bejerano G, Bernstein JA. Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. American Journal of Medical Genetics. Part A. 176: 1030-1036. PMID 29575631 DOI: 10.1002/Ajmg.A.38636  0.321
2018 Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, ... ... Bernstein JA, et al. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Human Mutation. PMID 29330883 DOI: 10.1002/Humu.23400  0.323
2017 Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, ... ... Bernstein JA, et al. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain : a Journal of Neurology. 140: 2610-2622. PMID 28969385 DOI: 10.1093/Brain/Awx203  0.312
2017 Chen L, Jensik PJ, Alaimo JT, Walkiewicz M, Berger S, Roeder E, Faqeih EA, Bernstein JA, Smith ACM, Mullegama SV, Saffen DW, Elsea SH. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Human Mutation. PMID 28940898 DOI: 10.1002/Humu.23339  0.313
2017 Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. American Journal of Medical Genetics. Part A. PMID 28815871 DOI: 10.1002/Ajmg.A.38388  0.335
2017 Sailani MR, Jingga I, MirMazlomi SH, Bitarafan F, Bernstein JA, Snyder MP, Garshasbi M. Isolated Congenital Anosmia and CNGA2 Mutation. Scientific Reports. 7: 2667. PMID 28572688 DOI: 10.1038/S41598-017-02947-Y  0.309
2017 Reza Sailani M, Jahanbani F, Nasiri J, Behnam M, Salehi M, Sedghi M, Hoseinzadeh M, Takahashi S, Zia A, Gruber J, Lynch JL, Lam D, Winkelmann J, Amirkiai S, Pang B, ... ... Bernstein JA, et al. Association of AHSG with alopecia and mental retardation (APMR) syndrome. Human Genetics. PMID 28054173 DOI: 10.1007/S00439-016-1756-5  0.323
2016 Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, ... ... Bernstein JA, et al. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. American Journal of Human Genetics. PMID 27616479 DOI: 10.1016/J.Ajhg.2016.08.001  0.32
2016 Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, ... ... Bernstein JA, et al. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. American Journal of Human Genetics. PMID 27108799 DOI: 10.1016/J.Ajhg.2016.03.011  0.317
2016 Gomez-Ospina N, Kuo C, Ananth AL, Myers A, Brennan ML, Stevenson DA, Bernstein JA, Hudgins L. Respiratory system involvement in Costello syndrome. American Journal of Medical Genetics. Part A. PMID 27102959 DOI: 10.1002/Ajmg.A.37655  0.328
2016 Ananth AL, Robichaux-Viehoever A, Kim YM, Hanson-Kahn A, Cox R, Enns GM, Strober J, Willing M, Schlaggar BL, Wu YW, Bernstein JA. Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. Pediatric Neurology. PMID 27068059 DOI: 10.1016/J.Pediatrneurol.2016.02.018  0.319
2016 Macmurdo CF, Wooderchak-Donahue W, Bayrak-Toydemir P, Le J, Wallenstein MB, Milla C, Teng JM, Bernstein JA, Stevenson DA. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. American Journal of Medical Genetics. Part A. PMID 26969842 DOI: 10.1002/Ajmg.A.37613  0.32
2016 Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, et al. Clinical delineation of the PACS1-related Syndrome-Report on 19 Patients. American Journal of Medical Genetics. Part A. PMID 26842493 DOI: 10.1002/Ajmg.A.37476  0.336
2015 Atwal PS, Blease S, Braxton A, Graves J, He W, Person R, Slattery L, Bernstein JA, Hudgins L. Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. American Journal of Medical Genetics. Part A. PMID 26686323 DOI: 10.1002/Ajmg.A.37491  0.323
2015 Holzinger D, Fassl SK, de Jager W, Lohse P, Röhrig UF, Gattorno M, Omenetti A, Chiesa S, Schena F, Austermann J, Vogl T, Kuhns DB, Holland SM, Rodríguez-Gallego C, López-Almaraz R, ... ... Bernstein JA, et al. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. The Journal of Allergy and Clinical Immunology. PMID 26025129 DOI: 10.1016/J.Jaci.2015.04.016  0.334
2015 Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, et al. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. European Journal of Human Genetics : Ejhg. PMID 25944381 DOI: 10.1038/Ejhg.2015.71  0.304
2014 Sureka D, Stheneur C, Odent S, Arno G, Murphy D, Bernstein JA. A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome. Journal of Pediatric Genetics. 3: 157-62. PMID 27625872 DOI: 10.3233/Pge-14095  0.328
2012 Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Human Mutation. 33: 1626-9. PMID 22829454 DOI: 10.1002/Humu.22166  0.317
2012 Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, ... ... Bernstein JA, et al. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation. 33: 316-26. PMID 22095942 DOI: 10.1002/Humu.21661  0.305
2012 Lionetti G, Bernstein JA, Holzinger D, Jeng M, Roth J, Zadeh N, Hsu J. IL-1 blockade as a novel approach to treatment of hyperzincemia and hypercalprotectinemia, a possible new autoinflammatory syndrome Pediatric Rheumatology. 10. DOI: 10.1186/1546-0096-10-S1-A87  0.325
2011 Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Ectopia lentis as the presenting and primary feature in Marfan syndrome. American Journal of Medical Genetics. Part A. 155: 2661-8. PMID 21932315 DOI: 10.1002/Ajmg.A.34245  0.354
2011 Niemi AK, Northrup H, Hudgins L, Bernstein JA. Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex. American Journal of Medical Genetics. Part A. 155: 2534-7. PMID 21910228 DOI: 10.1002/Ajmg.A.34197  0.304
2011 Holzinger D, Austermann J, Lohse P, Aksentijevich I, Holland S, Gattorno M, Rodríguez-Gallego C, Fessatou S, Isidor B, Tokio S, Bernstein J, Sampson B, Sunderkoetter C, Roth J. A novel mutatioin in the PSTPIP1 gene is associated with an autoinflammatory disease distinct from classical PAPA syndrome Pediatric Rheumatology. 9. DOI: 10.1186/1546-0096-9-S1-O39  0.345
2010 Kaplan JD, Bernstein JA, Kwan A, Hudgins L. Clues to an early diagnosis of Kallmann syndrome. American Journal of Medical Genetics. Part A. 152: 2796-801. PMID 20949504 DOI: 10.1002/Ajmg.A.33442  0.321
2004 Bernstein JA, Lin PH, Cohen SN, Lin-Chao S. Global analysis of Escherichia coli RNA degradosome function using DNA microarrays. Proceedings of the National Academy of Sciences of the United States of America. 101: 2758-63. PMID 14981237 DOI: 10.1073/Pnas.0308747101  0.439
2002 Bernstein JA, Khodursky AB, Lin PH, Lin-Chao S, Cohen SN. Global analysis of mRNA decay and abundance in Escherichia coli at single-gene resolution using two-color fluorescent DNA microarrays. Proceedings of the National Academy of Sciences of the United States of America. 99: 9697-702. PMID 12119387 DOI: 10.1073/Pnas.112318199  0.413
2002 Lee K, Bernstein JA, Cohen SN. RNase G complementation of rne null mutation identifies functional interrelationships with RNase E in Escherichia coli. Molecular Microbiology. 43: 1445-56. PMID 11952897 DOI: 10.1046/J.1365-2958.2002.02848.X  0.422
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