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Transforming the understanding
and treatment of mental illnesses.

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Human Genetics Branch Human Genetics Branch

Recent Publications

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  1. Liu S, Akula N, Reardon PK, Russ J, Torres E, Clasen LS, Blumenthal J,Lalonde F, McMahon FJ, Szele F, Disteche CM, Cader MZ, Raznahan A. Aneuploidy effects on human gene expression across three cell types . Proc Natl Acad Sci U S A. 2023 May 23;120(21):e2218478120. doi: 10.1073/pnas.2218478120. Epub 2023 May 16. PMID: 37192167.
  2. Kim B, Kim D, Schulmann A, Patel Y, Caban-Rivera C, Kim P, Jambhale A,Johnson KR, Feng N, Xu Q, Kang SJ, Mandal A, Kelly M, Akula N, McMahon FJ, Lipska B, Marenco S, Auluck PK. Cellular Diversity in Human Subgenual Anterior Cingulate and Dorsolateral Prefrontal Cortex by Single-Nucleus RNA-Sequencing . J Neurosci. 2023 May 10;43(19):3582-3597. doi: 10.1523/JNEUROSCI.0830-22.2023. Epub 2023 Apr 10. PMID: 37037607.
  3. Schulmann A, Marenco S, Vawter MP, Akula N, Limon A, Mandal A, Auluck PK, Patel Y, Lipska BK, McMahon FJ. Antipsychotic drug use complicates assessment of gene expression changes associated with schizophrenia . Transl Psychiatry. 2023 Mar 17;13(1):93. doi: 10.1038/s41398-023-02392-8. PMID: 36932057.
  4. Humphries EM, Ahn K, Kember RL, Lopes FL, Mocci E, Peralta JM, Blangero J, Glahn DC, Goes FS, Zandi PP, Kochunov P, Van Hout C, Shuldiner AR, Pollin TI, Mitchell BD, Bucan M, Hong LE, McMahon FJ, Ament SA. Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population . Mol Psychiatry. 2023 Mar 7. doi: 10.1038/s41380-023-02014-1. PMID: 36882501.
  5. Hasin N, Riggs LM, Shekhtman T, Ashworth J, Lease R, Oshone RT, Humphries EM, Badner JA, Thomson PA, Glahn DC, Craig DW, Edenberg HJ, Gershon ES, McMahon FJ, Nurnberger JI, Zandi PP, Kelsoe JR, Roach JC, Gould TD, Ament SA. Rare variants implicate NMDA receptor signaling and cerebellar gene networks in risk for bipolar disorder . Mol Psychiatry. 2022 Sep;27(9):3842-3856. doi: 10.1038/s41380-022-01609-4. PMID: 35546635.
  6. Cearns M, Amare AT, Schubert KO, Thalamuthu A, Frank J, Streit F, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Backlund L, Bhattacharjee AK, Bellivier F, Benabarre A, Bengesser S, Biernacka JM, Birner A, Brichant-Petitjean C, Cervantes P, Chen HC, Chillotti C, Cichon S, Cruceanu C, Czerski PM, Dalkner N, Dayer A, Degenhardt F, Zompo MD, DePaulo JR, Étain B, Falkai P, Forstner AJ, Frisen L, Frye MA, Fullerton JM, Gard S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Grof P, Hashimoto R, Hauser J, Heilbronner U, Herms S, Hoffmann P, Hofmann A, Hou L, Hsu YH, Jamain S, Jiménez E, Kahn JP, Kassem L, Kuo PH, Kato T, Kelsoe J, Kittel-Schneider S, Kliwicki S, König B, Kusumi I,Laje G, Landén M, Lavebratt C, Leboyer M, Leckband SG, Maj M; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Manchia M, Martinsson L, McCarthy MJ, McElroy S, Colom F, Mitjans M, Mondimore FM, Monteleone P, Nievergelt CM, Nöthen MM, Novák T, O'Donovan C, Ozaki N, Millischer V, Papiol S, Pfennig A, Pisanu C, Potash JB, Reif A, Reininghaus E, Rouleau GA, Rybakowski JK, Schalling M, Schofield PR, Schweizer BW, Severino G, Shekhtman T, Shilling PD, Shimoda K, Simhandl C, Slaney CM, Squassina A, Stamm T, Stopkova P, Tekola-Ayele F, Tortorella A, Turecki G, Veeh J, Vieta E, Witt SH, Roberts G, Zandi PP, Alda M, Bauer M, McMahon FJ, Mitchell PB, Schulze TG, Rietschel M, Clark SR, Baune BT. Using polygenic scores and clinical data for bipolar disorder patient stratification and lithium response prediction: machine learning approach . Br J Psychiatry. 2022 Feb 28:1-10. doi: 10.1192/bjp.2022.28. PMID:35225756.
  7. Kalman JL, Olde Loohuis LM, Vreeker A, McQuillin A, Stahl EA, Ruderfer D, Grigoroiu-Serbanescu M, Panagiotaropoulou G, Ripke S, Bigdeli TB, Stein F, Meller T, Meinert S, Pelin H, Streit F, Papiol S, Adams MJ, Adolfsson R, Adorjan K, Agartz I, Aminoff SR, Anderson-Schmidt H, Andreassen OA, Ardau R, Aubry JM, Balaban C, Bass N, Baune BT, Bellivier F, Benabarre A, Bengesser S, Berrettini WH, Boks MP, Bromet EJ, Brosch K, Budde M, Byerley W, Cervantes P, Chillotti C, Cichon S, Clark SR, Comes AL, Corvin A, Coryell W, Craddock N, Craig DW, Croarkin PE, Cruceanu C, Czerski PM, Dalkner N, Dannlowski U, Degenhardt F, Del Zompo M, DePaulo JR, Djurovic S, Edenberg HJ, Eissa MA, Elvsåshagen T, Etain B, Fanous AH, Fellendorf F, Fiorentino A, Forstner AJ, Frye MA, Fullerton JM, Gade K, Garnham J, Gershon E, Gill M, Goes FS, Gordon-Smith K, Grof P, Guzman-Parra J, Hahn T, Hasler R, Heilbronner M, Heilbronner U, Jamain S, Jimenez E, Jones I, Jones L, Jonsson L, Kahn RS, Kelsoe JR, Kennedy JL, Kircher T, Kirov G, Kittel-Schneider S, Klöhn-Saghatolislam F, Knowles JA, Kranz TM, Lagerberg TV, Landen M, Lawson WB, Leboyer M, Li QS, Maj M, Malaspina D, Manchia M, Mayoral F, McElroy SL, McInnis MG, McIntosh AM, Medeiros H, Melle I, Milanova V, Mitchell PB, Monteleone P, Monteleone AM, Nöthen MM, Novak T, Nurnberger JI, O'Brien N, O'Connell KS, O'Donovan C, O'Donovan MC, Opel N, Ortiz A, Owen MJ, Pålsson E, Pato C, Pato MT, Pawlak J, Pfarr JK, Pisanu C, Potash JB, Rapaport MH, Reich-Erkelenz D, Reif A, Reininghaus E, Repple J, Richard-Lepouriel H, Rietschel M, Ringwald K, Roberts G, Rouleau G, Schaupp S, Scheftner WA, Schmitt S, Schofield PR, Schubert KO, Schulte EC, Schweizer B, Senner F, Severino G, Sharp S, Slaney C, Smeland OB, Sobell JL, Squassina A, Stopkova P, Strauss J, Tortorella A, Turecki G, Twarowska-Hauser J, Veldic M, Vieta E, Vincent JB, Xu W, Zai CC, Zandi PP; Psychiatric Genomics Consortium (PGC) Bipolar Disorder Working Group; International Consortium on Lithium Genetics (ConLiGen); Colombia-US Cross Disorder Collaboration in Psychiatric Genetics; Di Florio A, Smoller JW, Biernacka JM, McMahon FJ, Alda M, Müller-Myhsok B, Koutsouleris N, Falkai P, Freimer NB, Andlauer TFM, Schulze TG, Ophoff RA Characterisation of age and polarity at onset in bipolar disorder . Br J Psychiatry. 2021 Dec;219(6):659-669. doi: 10.1192/bjp.2021.102. PMID:35048876.PMID:35048876.
  8. Jiang Y, Chiu CY, Yan Q, Chen W, Gorin MB, Conley YP, Lakhal-Chaieb ML, Cook RJ, Amos CI, Wilson AF, Bailey-Wilson JE, McMahon FJ, Vazquez AI, Yuan A, Zhong X, Xiong M, Weeks DE, Fan R. Gene-Based Association Testing of Dichotomous Traits With Generalized Functional Linear Mixed Models Using Extended Pedigrees: Applications to Age-Related Macular Degeneration . J Am Stat Assoc. 2021;116(534):531-545. doi: 10.1080/01621459.2020.1799809. PMID:34321704.
  9. Mullins N, Forstner AJ, O'Connell KS, Coombes B, Coleman JRI, Qiao Z, Als TD, Bigdeli TB, Børte S, Bryois J, Charney AW, Drange OK, Gandal MJ, Hagenaars SP, Ikeda M, Kamitaki N, Kim M, Krebs K, Panagiotaropoulou G, Schilder BM, Sloofman LG, Steinberg S, Trubetskoy V, Winsvold BS, Won HH, Abramova L, Adorjan K, Agerbo E, Al Eissa M, Albani D, Alliey-Rodriguez N, Anjorin A, Antilla V, Antoniou A, Awasthi S, Baek JH, Bækvad-Hansen M, Bass N, Bauer M, Beins EC, Bergen SE, Birner A, Bøcker Pedersen C, Bøen E, Boks MP, Bosch R, Brum M, Brumpton BM, Brunkhorst-Kanaan N, Budde M, Bybjerg-Grauholm J, Byerley W, Cairns M, Casas M, Cervantes P, Clarke TK, Cruceanu C, Cuellar-Barboza A, Cunningham J, Curtis D, Czerski PM, Dale AM, Dalkner N, David FS, Degenhardt F, Djurovic S, Dobbyn AL, Douzenis A, Elvsåshagen T, Escott-Price V, Ferrier IN, Fiorentino A, Foroud TM, Forty L, Frank J, Frei O, Freimer NB, Frisén L, Gade K, Garnham J, Gelernter J, Giørtz Pedersen M, Gizer IR, Gordon SD, Gordon-Smith K, Greenwood TA, Grove J, Guzman-Parra J, Ha K, Haraldsson M, Hautzinger M, Heilbronner U, Hellgren D, Herms S, Hoffmann P, Holmans PA, Huckins L, Jamain S, Johnson JS, Kalman JL, Kamatani Y, Kennedy JL, Kittel-Schneider S, Knowles JA, Kogevinas M, Koromina M, Kranz TM, Kranzler HR, Kubo M, Kupka R, Kushner SA, Lavebratt C, Lawrence J, Leber M, Lee HJ, Lee PH, Levy SE, Lewis C, Liao C, Lucae S, Lundberg M, MacIntyre DJ, Magnusson SH, Maier W, Maihofer A, Malaspina D, Maratou E, Martinsson L, Mattheisen M, McCarroll SA, McGregor NW, McGuffin P, McKay JD, Medeiros H, Medland SE, Millischer V, Montgomery GW, Moran JL, Morris DW, Mühleisen TW, O'Brien N, O'Donovan C, Olde Loohuis LM, Oruc L, Papiol S, Pardiñas AF, Perry A, Pfennig A, Porichi E, Potash JB, Quested D, Raj T, Rapaport MH, DePaulo JR, Regeer EJ, Rice JP, Rivas F, Rivera M, Roth J, Roussos P, Ruderfer DM, Sánchez-Mora C, Schulte EC, Senner F, Sharp S, Shilling PD, Sigurdsson E, Sirignano L, Slaney C, Smeland OB, Smith DJ, Sobell JL, Søholm Hansen C, Soler Artigas M, Spijker AT, Stein DJ, Strauss JS, Świątkowska B, Terao C, Thorgeirsson TE, Toma C, Tooney P, Tsermpini EE, Vawter MP, Vedder H, Walters JTR, Witt SH, Xi S, Xu W, Yang JMK, Young AH, Young H, Zandi PP, Zhou H, Zillich L; HUNT All-In Psychiatry; Adolfsson R, Agartz I, Alda M, Alfredsson L, Babadjanova G, Backlund L, Baune BT, Bellivier F, Bengesser S, Berrettini WH, Blackwood DHR, Boehnke M, Børglum AD, Breen G, Carr VJ, Catts S, Corvin A, Craddock N, Dannlowski U, Dikeos D, Esko T, Etain B, Ferentinos P, Frye M, Fullerton JM, Gawlik M, Gershon ES, Goes FS, Green MJ, Grigoroiu-Serbanescu M, Hauser J, Henskens F, Hillert J, Hong KS, Hougaard DM, Hultman CM, Hveem K, Iwata N, Jablensky AV, Jones I, Jones LA, Kahn RS, Kelsoe JR, Kirov G, Landén M, Leboyer M, Lewis CM, Li QS, Lissowska J, Lochner C, Loughland C, Martin NG, Mathews CA, Mayoral F, McElroy SL, McIntosh AM, McMahon FJ, Melle I, Michie P, Milani L, Mitchell PB, Morken G, Mors O, Mortensen PB, Mowry B, Müller-Myhsok B, Myers RM, Neale BM, Nievergelt CM, Nordentoft M, Nöthen MM, O'Donovan MC, Oedegaard KJ, Olsson T, Owen MJ, Paciga SA, Pantelis C, Pato C, Pato MT, Patrinos GP, Perlis RH, Posthuma D, Ramos-Quiroga JA, Reif A, Reininghaus EZ, Ribasés M, Rietschel M, Ripke S, Rouleau GA, Saito T, Schall U, Schalling M, Schofield PR, Schulze TG, Scott LJ, Scott RJ, Serretti A, Shannon Weickert C, Smoller JW, Stefansson H, Stefansson K, Stordal E, Streit F, Sullivan PF, Turecki G, Vaaler AE, Vieta E, Vincent JB, Waldman ID, Weickert TW, Werge T, Wray NR, Zwart JA, Biernacka JM, Nurnberger JI, Cichon S, Edenberg HJ, Stahl EA, McQuillin A, Di Florio A, Ophoff RA, Andreassen OA. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology . Nat Genet. 2021 Jun;53(6):817-829. doi: 10.1038/s41588-021-00857-4. Epub 2021 May 17. PMID: 34002096.
  10. Knowles EEM, Peralta JM, Almasy L, Nimgaonkar V, McMahon FJ, McIntosh AM, Thomson P, Mathias SR, Gur RC, Curran JE, Raventós H, Contreras J, Jablensky A, Badcock J, Blangero J, Gur RE, Glahn DC. Genetic overlap profiles of cognitive ability in psychotic and affective illnesses: A multisite study of multiplex pedigrees . Biol Psychiatry. 2021 Sep 15;90(6):373-384. doi:10.1016/j.biopsych.2021.03.012. Epub 2021 Mar 17. PMID: 33975707.
  11. Jiang X, Detera-Wadleigh SD, Akula N, Mallon BS, Hou L, Xiao T, Felsenfeld G, Gu X, McMahon FJ. Sodium valproate rescues expression of TRANK1 in iPSC-derived neural cells that carry a genetic variant associated with serious mental illness . Mol Psychiatry. 2018 Aug 22. doi: 10.1038/s41380-018-0207-1. [Epub ahead of print] PubMed PMID: 30135510.
  12. Sapp JC, Johnston JJ, Driscoll K, Heidlebaugh AR, Miren Sagardia A, Dogbe DN, Umstead KL, Turbitt E, Alevizos I, Baron J, Bönnemann C, Brooks B, Donkervoort S, Jee YH, Linehan WM, McMahon FJ, Moss J, Mullikin JC, Nielsen D, Pelayo E, Remaley AT, Siegel R, Su H, Zarate C; NISC Comparative Sequencing Program., Manolio TA, Biesecker BB, Biesecker LG. Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot  v. Am J Hum Genet. 2018 Sep 6;103(3):358-366. doi: 10.1016/j.ajhg.2018.07.018. Epub 2018 Aug 16. PubMed PMID: 30122538 ; PubMed Central PMCID: PMC6128311.
  13. Chiu CY, Yuan F, Zhang BS, Yuan A, Li X, Fang HB, Lange K, Weeks DE, Wilson AF, Bailey-Wilson JE, Musolf AM, Stambolian D, Lakhal-Chaieb ML, Cook RJ, McMahon FJ, Amos CI, Xiong M, Fan R. Linear mixed models for association analysis of quantitative traits with next-generation sequencing data. Genet Epidemiol . 2019 Mar;43(2):189-206. doi: 10.1002/gepi.22177. Epub 2018 Dec 9. PubMed PMID: 30537345; PubMed Central PMCID: PMC6375753.
  14. McMahon FJ. Population-Based Estimates of Heritability Shed New Light on Clinical Features of Major Depression . Am J Psychiatry. 2018 Nov 1;175(11):1058-1060. doi: 10.1176/appi.ajp.2018.18070789. PubMed PMID: 30380936.
  15. Glahn DC, Nimgaonkar VL, Raventós H, Contreras J, McIntosh AM, Thomson PA, Jablensky A, McCarthy NS, Charlesworth JC, Blackburn NB, Peralta JM, Knowles EEM, Mathias SR, Ament SA, McMahon FJ, Gur RC, Bucan M, Curran JE, Almasy L, Gur RE, Blangero J. Rediscovering the value of families for psychiatric genetics research . Mol Psychiatry. 2018 Jun 28. doi: 10.1038/s41380-018-0073-x. [Epub ahead of print] PubMed PMID: 29955165.
  16. Wille L, McMahon FJ. Coherence Through Incongruence-Can Genetic Markers Inform Nosology After All?  JAMA Psychiatry. 2018 Jan 1;75(1):7-8. doi: 10.1001/jamapsychiatry.2017.3484. PubMed PMID: 29167878.
  17. 17. International Consortium on Lithium Genetics (ConLi+Gen), Amare AT, Schubert KO, Hou L, Clark SR, Papiol S, Heilbronner U, Degenhardt F, Tekola-Ayele F, Hsu YH, Shekhtman T, Adli M, Akula N, Akiyama K, Ardau R, Arias B, Aubry JM, Backlund L, Bhattacharjee AK, Bellivier F, Benabarre A, Bengesser S, Biernacka JM, Birner A, Brichant-Petitjean C, Cervantes P, Chen HC, Chillotti C, Cichon S, Cruceanu C, Czerski PM, Dalkner N, Dayer A, Del Zompo M, DePaulo JR, Étain B, Falkai P, Forstner AJ, Frisen L, Frye MA, Fullerton JM, Gard S, Garnham JS, Goes FS, Grigoroiu-Serbanescu M, Grof P, Hashimoto R, Hauser J, Herms S, Hoffmann P, Hofmann A, Jamain S, Jiménez E, Kahn JP, Kassem L, Kuo PH, Kato T, Kelsoe J, Kittel-Schneider S, Kliwicki S, König B, Kusumi I, Laje G, Landén M, Lavebratt C, Leboyer M, Leckband SG, Tortorella A, Manchia M, Martinsson L, McCarthy MJ, McElroy S, Colom F, Mitjans M, Mondimore FM, Monteleone P, Nievergelt CM, Nöthen MM, Novák T, O'Donovan C, Ozaki N, Ösby U, Pfennig A, Potash JB, Reif A, Reininghaus E, Rouleau GA, Rybakowski JK, Schalling M, Schofield PR, Schweizer BW, Severino G, Shilling PD, Shimoda K, Simhandl C, Slaney CM, Squassina A, Stamm T, Stopkova P, Maj M, Turecki G, Vieta E, Volkert J, Witt S, Wright A, Zandi PP, Mitchell PB, Bauer M, Alda M, Rietschel M, McMahon FJ, Schulze TG, Baune BT. Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study . JAMA Psychiatry. 2017 Nov 9. doi: 10.1001/jamapsychiatry.2017.3433. [Epub ahead of print] PubMed PMID: 29121268.
  18. Hou L, Kember RL, Roach JC, O'Connell JR, Craig DW, Bucan M, Scott WK, Pericak-Vance M, Haines JL, Crawford MH, Shuldiner AR, McMahon FJ. A population-specific reference panel empowers genetic studies of Anabaptist populations . Sci Rep. 2017 Jul 20;7(1):6079. doi: 10.1038/s41598-017-05445-3. PubMed PMID: 28729679; PubMed Central PMCID: PMC5519631.
  19. Lopes FL, Hou L, Boldt AB, Kassem L, Alves VM, Nardi AE, McMahon FJ. Finding Rare, Disease-Associated Variants in Isolated Groups: Potential Advantages of Mennonite Populations  . Hum Biol. 2016 Apr;88(2):109-120. PubMed PMID: 28162000.
  20. Gill KE, Cardenas SA, Kassem L, Schulze TG, McMahon FJ. Symptom profiles and illness course among Anabaptist and Non-Anabaptist adults with major mood disorders . Int J Bipolar Disord. 2016 Dec;4(1):21. Epub 2016 Oct 12. PubMed PMID: 27734417; PubMed Central PMCID: PMC5061680.
  21. Cardenas SA, Kassem L, Brotman MA, Leibenluft E, McMahon FJ. Neurocognitive functioning in euthymic patients with bipolar disorder and unaffected relatives: A review of the literature . Neurosci Biobehav Rev. 2016 Oct;69:193-215. doi: 10.1016/j.neubiorev.2016.08.002. Epub 2016 Aug 5. Review. PubMed PMID: 27502749; PubMed Central PMCID: PMC5030183.
  22. Hou L, Bergen SE, Akula N, Song J, Hultman CM, Landén M, Adli M, Alda M, Ardau R, Arias B, Aubry JM, Backlund L, Badner JA, Barrett TB, Bauer M, Baune BT, Bellivier F, Benabarre A, Bengesser S, Berrettini WH, Bhattacharjee AK, Biernacka JM, Birner A, Bloss CS, Brichant-Petitjean C, Bui ET, Byerley W, Cervantes P, Chillotti C, Cichon S, Colom F, Coryell W, Craig DW, Cruceanu C, Czerski PM, Davis T, Dayer A, Degenhardt F, Del Zompo M, DePaulo JR, Edenberg HJ, Étain B, Falkai P, Foroud T, Forstner AJ, Frisén L, Frye MA, Fullerton JM, Gard S, Garnham JS, Gershon ES, Goes FS, Greenwood TA, Grigoroiu-Serbanescu M, Hauser J, Heilbronner U, Heilmann-Heimbach S, Herms S, Hipolito M, Hitturlingappa S, Hoffmann P, Hofmann A, Jamain S, Jiménez E, Kahn JP, Kassem L, Kelsoe JR, Kittel-Schneider S, Kliwicki S, Koller DL, König B, Lackner N, Laje G, Lang M, Lavebratt C, Lawson WB, Leboyer M, Leckband SG, Liu C, Maaser A, Mahon PB, Maier W, Maj M, Manchia M, Martinsson L, McCarthy MJ, McElroy SL, McInnis MG, McKinney R, Mitchell PB, Mitjans M, Mondimore FM, Monteleone P, Mühleisen TW, Nievergelt CM, Nöthen MM, Novák T, Nurnberger JI Jr, Nwulia EA, Ösby U, Pfennig A, Potash JB, Propping P, Reif A, Reininghaus E, Rice J, Rietschel M, Rouleau GA, Rybakowski JK, Schalling M, Scheftner WA, Schofield PR, Schork NJ, Schulze TG, Schumacher J, Schweizer BW, Severino G, Shekhtman T, Shilling PD, Simhandl C, Slaney CM, Smith EN, Squassina A, Stamm T, Stopkova P, Streit F, Strohmaier J, Szelinger S, Tighe SK, Tortorella A, Turecki G, Vieta E, Volkert J, Witt SH, Wright A, Zandi PP, Zhang P, Zollner S, McMahon FJ. Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder . Hum Mol Genet. 2016 Aug 1;25(15):3383-3394. doi: 10.1093/hmg/ddw181. Epub 2016 Jun 21. PubMed PMID: 27329760; PubMed Central PMCID: PMC5179929.