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Joel B Krier, M.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 Jun 10. PMID: 34113007.
    Citations:    Fields:    
  2. Stergachis AB, Krier JB, Merugumala SK, Berry GT, Lin AP. Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia. Mol Genet Metab Rep. 2021 Jun; 27:100742. PMID: 33763331.
    Citations:    
  3. Shah SN, Gammal RS, Amato MG, Alobaidly M, Reyes DD, Hasan S, Seger DL, Krier JB, Bates DW. Clinical Utility of Pharmacogenomic Data Collected by a Health-System Biobank to Predict and Prevent Adverse Drug Events. Drug Saf. 2021 May; 44(5):601-607. PMID: 33620701.
    Citations: 1     Fields:    
  4. Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ, Sunyaev SR, Kohane IS. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. Genet Med. 2021 06; 23(6):1075-1085. PMID: 33580225.
    Citations:    Fields:    Translation:Humans
  5. Jiao X, Morleo M, Nigro V, Torella A, D'Arrigo S, Ciaccio C, Pantaleoni C, Gong P, Grand K, Sanchez-Lara PA, Krier J, Fieg E, Stergachis A, Wang X, Yang Z. Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay. Front Pharmacol. 2020; 11:599191. PMID: 33390987.
    Citations:    
  6. Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V, Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG, Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H, Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M, Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain. 2020 12 05; 143(11):3242-3261. PMID: 33150406.
    Citations: 3     Fields:    Translation:Humans
  7. Stergachis AB, Mogensen KM, Khoury CC, Lin AP, Peake RW, Baker JJ, Barkoudah E, Sahai I, Sweetser DA, Berry GT, Krier JB. A retrospective study of adult patients with noncirrhotic hyperammonemia. J Inherit Metab Dis. 2020 11; 43(6):1165-1172. PMID: 32713002.
    Citations: 1     Fields:    
  8. Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363. PMID: 32693025.
    Citations: 6     Fields:    Translation:Humans
  9. Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 06 03; 29(9):1568-1579. PMID: 32356556.
    Citations: 5     Fields:    
  10. Slama MCC, Torre M, Shatzman SM, Suh J, Krier JB, De Girolami U, Kimbrough DJ, Milligan TA. Clinical Reasoning: A 42-year-old woman with progressive cognitive difficulties and gait imbalance. Neurology. 2020 03 17; 94(11):e1219-e1226. PMID: 32107324.
    Citations:    Fields:    Translation:Humans
  11. Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. Am J Hum Genet. 2019 10 03; 105(4):854-868. PMID: 31585109.
    Citations: 7     Fields:    Translation:HumansCells
  12. Li GZ, Tio MC, Pak LM, Krier J, Seifter JL, Tullius SG, Riella LV, Malek SK, Stergachis AB. Noncirrhotic hyperammonemia after deceased donor kidney transplantation: A case report. Am J Transplant. 2019 11; 19(11):3197-3201. PMID: 31347272.
    Citations: 3     Fields:    Translation:Humans
  13. Reuter CM, Kohler JN, Bonner D, Zastrow D, Fernandez L, Dries A, Marwaha S, Davidson J, Brokamp E, Herzog M, Hong J, Macnamara E, Rosenfeld JA, Schoch K, Spillmann R, Loscalzo J, Krier J, Stoler J, Sweetser D, Palmer CGS, Phillips JA, Shashi V, Adams DA, Yang Y, Ashley EA, Fisher PG, Mulvihill JJ, Bernstein JA, Wheeler MT. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. J Genet Couns. 2019 12; 28(6):1107-1118. PMID: 31478310.
    Citations: 3     Fields:    Translation:Humans
  14. Aday AW, Krier JB, Pallais JC, Fieg EL, MacRae CA, Loscalzo J. The Undiagnosed Diseases Network as a Tool for Graduate Medical Education. Am J Med. 2020 02; 133(2):e18-e22. PMID: 31301294.
    Citations:    Fields:    Translation:Humans
  15. Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Sagardia AM, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med. 2019 May; 21(5):1261-1262. PMID: 30670880.
    Citations:    Fields:    
  16. Velilla J, Marchetti MM, Toth-Petroczy A, Grosgogeat C, Bennett AH, Carmichael N, Estrella E, Darras BT, Frank NY, Krier J, Gaudet R, Gupta VA. Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis. Neurol Genet. 2019 Apr; 5(2):e312. PMID: 31041394.
    Citations: 4     
  17. Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med. 2019 05; 21(5):1100-1110. PMID: 30287922.
    Citations: 24     Fields:    Translation:Humans
  18. Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018; 3:21. PMID: 30131872.
    Citations: 6     
  19. Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 08; 4(4). PMID: 29728376.
    Citations: 3     Fields:    Translation:HumansCellsPHPublic Health
  20. Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, Green RC, Beggs AH. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225. PMID: 29986673.
    Citations: 18     Fields:    Translation:HumansPHPublic Health
  21. Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, Diamond PM, Lebo M, Machini K, Azzariti DR, Dukhovny D, Bates DW, MacRae CA, Murray MF, Rehm HL, McGuire AL, Green RC. The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Ann Intern Med. 2017 08 01; 167(3):159-169. PMID: 28654958.
    Citations: 46     Fields:    Translation:Humans
  22. Krier JB, Kalia SS, Green RC. Genomic sequencing in clinical practice: applications, challenges, and opportunities. Dialogues Clin Neurosci. 2016 09; 18(3):299-312. PMID: 27757064.
    Citations: 20     Fields:    Translation:Humans
  23. Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. . 2016 10; 170(10):2617-31. PMID: 27302097.
    Citations: 9     Translation:Humans
  24. Krier J, Barfield R, Green RC, Kraft P. Reclassification of genetic-based risk predictions as GWAS data accumulate. Genome Med. 2016 Feb 17; 8(1):20. PMID: 26884246.
    Citations: 10     Fields:    Translation:Humans
  25. Cantu S, Krier J, Hashemi N. Hepatocyte Nuclear Factor 1a Mutation-associated MODY-3 and Familial Liver Adenomatosis. J Clin Gastroenterol. 2016 Feb; 50(2):181-2. PMID: 26646800.
    Citations: 1     Fields:    Translation:Humans
  26. Krier JB, Green RC. Management of Incidental Findings in Clinical Genomic Sequencing. Curr Protoc Hum Genet. 2015 Oct 06; 87:9.23.1-9.23.16. PMID: 26439717.
    Citations: 3     Fields:    Translation:Humans
  27. Cipriano C, Brockman L, Romancik J, Hartemayer R, Ording J, Ginder C, Krier J, Gitelis S, Kent P. The Clinical Significance of Initial Pulmonary Micronodules in Young Sarcoma Patients. J Pediatr Hematol Oncol. 2015 Oct; 37(7):548-53. PMID: 26207772.
    Citations: 6     Fields:    Translation:Humans
  28. Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 Oct; 36(10):915-21. PMID: 26295439.
    Citations: 149     Fields:    Translation:Humans
  29. Vassy JL, McLaughlin HM, McLaughlin HL, MacRae CA, Seidman CE, Lautenbach D, Krier JB, Lane WJ, Kohane IS, Murray MF, McGuire AL, Rehm HL, Green RC. A one-page summary report of genome sequencing for the healthy adult. Public Health Genomics. 2015; 18(2):123-9. PMID: 25612602.
    Citations: 19     Fields:    Translation:Humans
  30. McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet. 2014 Dec 14; 15:134. PMID: 25714468.
    Citations: 41     Fields:    Translation:Humans
  31. Kong SW, Lee IH, Leshchiner I, Krier J, Kraft P, Rehm HL, Green RC, Kohane IS, MacRae CA. Summarizing polygenic risks for complex diseases in a clinical whole-genome report. Genet Med. 2015 Jul; 17(7):536-44. PMID: 25341114.
    Citations: 18     Fields:    Translation:Humans
  32. Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, Feuerman LZ, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC. The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. Trials. 2014 Mar 20; 15:85. PMID: 24645908.
    Citations: 59     Fields:    Translation:Humans
  33. Krier JB, Green RC. Management of incidental findings in clinical genomic sequencing. Curr Protoc Hum Genet. 2013; Chapter 9:Unit9.23. PMID: 23595601.
    Citations: 11     Fields:    Translation:Humans
  34. Schnipper JL, Ackerman RH, Krier JB, Honour M. Diagnostic yield and utility of neurovascular ultrasonography in the evaluation of patients with syncope. Mayo Clin Proc. 2005 Apr; 80(4):480-8. PMID: 15819284.
    Citations: 5     Fields:    Translation:Humans
  35. Lin J, Krier J. Human recombinant interleukin-1 beta inhibits nicotinic transmission in neurons of guinea pig pelvic plexus ganglia. Am J Physiol. 1995 Dec; 269(6 Pt 1):G981-7. PMID: 8572230.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.