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2022
Ma C, Chen N, Jolly A, Zhao S, Coban-Akdemir Z, Tian W, Kang J, Ye Y, Wang Y, Koch A, Zhang Y, Qin C, Bonilla X, Borel C, Rall K, Chen Z, Jhangiani S, Niu Y, Li X, Qiu G, Zhang S, Luo G, Wu Z, Bacopoulou F, Deligeoroglou E, Zhang TJianguo, Rosenberg C, Gibbs RA, Dietrich JE, Dimas AS, Liu P, Antonarakis SE, Brucker SY, Posey JE, Lupski JR, Wu N, Zhu L. Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. Genet Med. 2022 ;24(11):2262-2273.
Young WJ, Lahrouchi N, Isaacs A, Duong TV, Foco L, Ahmed F, Brody JA, Salman R, Noordam R, Benjamins J-W, Haessler J, Lyytikäinen L-P, Repetto L, Concas MPina, van den Berg ME, Weiss S, Baldassari AR, Bartz TM, Cook JP, Evans DS, Freudling R, Hines O, Isaksen JL, Lin H, Mei H, Moscati A, Müller-Nurasyid M, Nursyifa C, Qian Y, Richmond A, Roselli C, Ryan KA, Tarazona-Santos E, Thériault S, van Duijvenboden S, Warren HR, Yao J, Raza D, Aeschbacher S, Ahlberg G, Alonso A, Andreasen L, Bis JC, Boerwinkle E, Campbell A, Catamo E, Cocca M, Cutler MJ, Darbar D, De Grandi A, De Luca A, Ding J, Ellervik C, Ellinor PT, Felix SB, Froguel P, Fuchsberger C, Gögele M, Graff C, Graff M, Guo X, Hansen T, Heckbert SR, Huang PL, Huikuri HV, Hutri-Kähönen N, M Ikram A, Jackson RD, Junttila J, Kavousi M, Kors JA, Leal TP, Lemaitre RN, Lin HJ, Lind L, Linneberg A, Liu S, Macfarlane PW, Mangino M, Meitinger T, Mezzavilla M, Mishra PP, Mitchell RN, Mononen N, Montasser ME, Morrison AC, Nauck M, Nauffal V, Navarro P, Nikus K, Paré G, Patton KK, Pelliccione G, Pittman A, Porteous DJ, Pramstaller PP, Preuss MH, Raitakari OT, Reiner AP, Ribeiro ALuiz P, Rice KM, Risch L, Schlessinger D, Schotten U, Schurmann C, Shen X, M Shoemaker B, Sinagra G, Sinner MF, Soliman EZ, Stoll M, Strauch K, Tarasov K, Taylor KD, Tinker A, Trompet S, Uitterlinden A, Völker U, Völzke H, Waldenberger M, Weng L-C, Whitsel EA, Wilson JG, Avery CL, Conen D, Correa A, Cucca F, Dörr M, Gharib SA, Girotto G, Grarup N, Hayward C, Jamshidi Y, Jarvelin M-R, J Jukema W, Kääb S, Kähönen M, Kanters JK, Kooperberg C, Lehtimäki T, Lima-Costa MFernanda, Liu Y, Loos RJF, Lubitz SA, Mook-Kanamori DO, Morris AP, O'Connell JR, Olesen MSalling, Orini M, Padmanabhan S, Pattaro C, Peters A, Psaty BM, Rotter JI, Stricker B, van der Harst P, van Duijn CM, Verweij N, Wilson JF, Arking DE, Ramirez J, Lambiase PD, Sotoodehnia N, Mifsud B, Newton-Cheh C, Munroe PB. Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways. Nat Commun. 2022 ;13(1):5144.
Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa JE, M Poli C, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, Aldave-Becerra JC, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, Kamdar KY, R Rouce H, Muzny DM, Jhangiani SN, Gibbs RA, Coban-Akdemir ZH, Lupski JR, McClain KL, Allen CE, Chinn IK. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 ;149(2):758-766.
Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, C Y Mak A, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet. 2022 ;141(1):127-146.
Li Y, Cheng Y, Consolato F, Schiano G, Chong MR, Pietzner M, Nguyen NQuynh H, Scherer N, Biggs ML, Kleber ME, Haug S, Göçmen B, Pigeyre M, Sekula P, Steinbrenner I, Schlosser P, Joseph CB, Brody JA, Grams ME, Hayward C, Schultheiss UT, Krämer BK, Kronenberg F, Peters A, Seissler J, Steubl D, Then C, Wuttke M, Marz W, Eckardt K-U, Gieger C, Boerwinkle E, Psaty BM, Coresh J, Oefner PJ, Paré G, Langenberg C, Scherberich JE, Yu B, Akilesh S, Devuyst O, Rampoldi L, Köttgen A. Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases. JCI Insight. 2022 ;7(10).
Chen F, Chandrashekar DS, Scheurer ME, Varambally S, Creighton CJ. Global molecular alterations involving recurrence or progression of pediatric brain tumors. Neoplasia. 2022 ;24(1):22-33.
Harrison SM, Austin-Tse CA, Kim S, Lebo M, Leon A, Murdock DR, Radhakrishnan A, Shirts BH, Steeves M, Venner E, Gibbs RA, Jarvik GP, Rehm HL. Harmonizing variant classification for return of results in the All of Us Research Program. Hum Mutat. 2022 ;43(8):1114-1121.
Gunter C, Harris RA, Kovacs-Balint Z, Raveendran M, Michopoulos V, Bachevalier J, Raper J, Sanchez MM, Rogers J. Heritability of social behavioral phenotypes and preliminary associations with autism spectrum disorder risk genes in rhesus macaques: A whole exome sequencing study. Autism Res. 2022 ;15(3):447-463.
Song B, Shen S, Fu S, Fu J. HSPA6 and its role in cancers and other diseases. Mol Biol Rep. 2022 ;49(11):10565-10577.
Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AOkay, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PMohan, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. J Med Genet. 2022 ;59(9):878-887.
Millo T, Rivera A, Obolensky A, Marks-Ohana D, Xu M, Li Y, Wilhelm E, Gopalakrishnan P, Gross M, Rosin B, Hanany M, Webster A, Tracewska AMaria, Koenekoop RK, Chen R, Arno G, Schueler-Furman O, Roosing S, Banin E, Sharon D. Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. Genet Med. 2022 ;24(7):1523-1535.
Wang L, Scherer SE, Bielinski SJ, Muzny DM, Jones LA, Black JLogan, Moyer AM, Giri J, Sharp RR, Matey ET, Wright JA, Oyen LJ, Nicholson WT, Wiepert M, Sullard T, Curry TB, Vitek CRRohrer, McAllister TM, St Sauver JL, Caraballo PJ, Lazaridis KN, Venner E, Qin X, Hu J, Kovar CL, Korchina V, Walker K, Doddapaneni H, Wu T-J, Raj R, Denson S, Liu W, Chandanavelli G, Zhang L, Wang Q, Kalra D, Karow MBeth, Harris KJ, Sicotte H, Peterson SE, Barthel AE, Moore BE, Skierka JM, Kluge ML, Kotzer KE, Kloke K, Pol JMVander, Marker H, Sutton JA, Kekic A, Ebenhoh A, Bierle DM, Schuh MJ, Grilli C, Erickson S, Umbreit A, Ward L, Crosby S, Nelson EA, Levey S, Elliott M, Peters SG, Pereira N, Frye M, Shamoun F, Goetz MP, Kullo IJ, Wermers R, Anderson JA, Formea CM, Melik RMEl, Zeuli JD, Herges JR, Krieger CA, Hoel RW, Taraba JL, St Thomas SR, Absah I, Bernard ME, Fink SR, Gossard A, Grubbs PL, Jacobson TM, Takahashi P, Zehe SC, Buckles S, Bumgardner M, Gallagher C, Fee-Schroeder K, Nicholas NR, Powers ML, Ragab AK, Richardson DM, Stai A, Wilson J, Pacyna JE, Olson JE, Sutton EJ, Beck AT, Horrow C, Kalari KR, Larson NB, Liu H, Wang L, Lopes GS, Borah BJ, Freimuth RR, Zhu Y, Jacobson DJ, Hathcock MA, Armasu SM, McGree ME, Jiang R, Koep TH, Ross JL, Hilden MG, Bosse K, Ramey B, Searcy I, Boerwinkle E, Gibbs RA, Weinshilboum RM. Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. Genet Med. 2022 ;24(5):1062-1072.
Kelly TN, Sun X, He KY, Brown MR, Taliun SAGagliano, Hellwege JN, Irvin MR, Mi X, Brody JA, Franceschini N, Guo X, Hwang S-J, de Vries PS, Gao Y, Moscati A, Nadkarni GN, Yanek LR, Elfassy T, Smith JA, Chung R-H, Beitelshees AL, Patki A, Aslibekyan S, Blobner BM, Peralta JM, Assimes TL, Palmas WR, Liu C, Bress AP, Huang Z, Becker LC, Hwa C-M, O'Connell JR, Carlson JC, Warren HR, Das S, Giri A, Martin LW, W Johnson C, Fox ER, Bottinger EP, Razavi AC, Vaidya D, Chuang L-M, Chang Y-PC, Naseri T, Jain D, Kang HMin, Hung AM, Srinivasasainagendra V, Snively BM, Gu D, Montasser ME, Reupena M'aSefuiva, Heavner BD, LeFaive J, Hixson JE, Rice KM, Wang FFei, Nielsen JB, Huang J, Khan AT, Zhou W, Nierenberg JL, Laurie CC, Armstrong ND, Shi M, Pan Y, Stilp AM, Emery L, Wong Q, Hawley NL, Minster RL, Curran JE, Munroe PB, Weeks DE, North KE, Tracy RP, Kenny EE, Shimbo D, Chakravarti A, Rich SS, Reiner AP, Blangero J, Redline S, Mitchell BD, Rao DC, Chen Y-DIda, Kardia SLR, Kaplan RC, Mathias RA, He J, Psaty BM, Fornage M, Loos RJF, Correa A, Boerwinkle E, Rotter JI, Kooperberg C, Edwards TL, Abecasis GR, Zhu X, Levy D, Arnett DK, Morrison AC. Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension. Hypertension. 2022 ;79(8):1656-1667.
Chen TK, Surapaneni AL, Arking DE, Ballantyne CM, Boerwinkle E, Chen J, Coresh J, Köttgen A, Susztak K, Tin A, Yu B, Grams ME. Kidney Risk Variants and Proteomics. Clin J Am Soc Nephrol. 2022 ;17(5):684-692.
Chander V, Mahmoud M, Hu J, Dardas Z, Grochowski CM, Dawood M, Khayat MM, Li H, Li S, Jhangiani S, Korchina V, Shen H, Weissenberger G, Meng Q, Gingras M-C, Muzny DM, Doddapaneni H, Posey JE, Lupski JR, Sabo A, Murdock DR, Sedlazeck FJ, Gibbs RA. Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 ;43(12):2033-2053.
Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, J Bazan F, Barrett L, Yeh RC, R Hill S, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell. 2022 ;57(20):2381-2396.e13.
Du H, Jolly A, Grochowski CM, Yuan B, Dawood M, Jhangiani SN, Li H, Muzny DM, Fatih JM, Coban-Akdemir Z, Carlin MEsther, Scheuerle AE, Witzl K, Posey JE, Pendleton M, Harrington E, Juul S, Hastings PJ, Bi W, Gibbs RA, Sedlazeck FJ, Lupski JR, Carvalho CMB, Liu P. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 ;14(1):122.
Kille B, Balaji A, Sedlazeck FJ, Nute M, Treangen TJ. Multiple genome alignment in the telomere-to-telomere assembly era. Genome Biol. 2022 ;23(1):182.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, García-González P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Alvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AArias, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor ABelén, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LIgnacio, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chêne G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen H-H, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MCarolina, Daniele A, Dardiotis E, Dartigues J-F, de Deyn PPaul, Lopes Kde Paiva, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M, Diehl-Schmid J, Diez-Fairen M, Rossi PDionigi, Djurovic S, Duron E, Düzel E, Dufouil C, Eiriksdottir G, Engelborghs S, Escott-Price V, Espinosa A, Ewers M, Faber KM, Fabrizio T, Nielsen SFallgaard, Fardo DW, Farotti L, Fenoglio C, Fernández-Fuertes M, Ferrari R, Ferreira CB, Ferri E, Fin B, Fischer P, Fladby T, Fließbach K, Fongang B, Fornage M, Fortea J, Foroud TM, Fostinelli S, Fox NC, Franco-Macías E, Bullido MJ, Frank-García A, Froelich L, Fulton-Howard B, Galimberti D, García-Alberca JMaría, García-González P, García-Madrona S, Garcia-Ribas G, Ghidoni R, Giegling I, Giorgio G, Goate AM, Goldhardt O, Gomez-Fonseca D, González-Perez A, Graff C, Grande G, Green E, Grimmer T, Grünblatt E, Grunin M, Gudnason V, Guetta-Baranes T, Haapasalo A, Hadjigeorgiou G, Haines JL, Hamilton-Nelson KL, Hampel H, Hanon O, Hardy J, Hartmann AM, Hausner L, Harwood J, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernández I, Herrmann MJ, Hoffmann P, Holmes C, Holstege H, Vilas RHuerto, Hulsman M, Humphrey J, Biessels GJan, Jian X, Johansson C, Jun GR, Kastumata Y, Kauwe J, Kehoe PG, Kilander L, Ståhlbom AKinhult, Kivipelto M, Koivisto A, Kornhuber J, Kosmidis MH, Kukull WA, Kuksa PP, Kunkle BW, Kuzma AB, Lage C, Laukka EJ, Launer L, Lauria A, Lee C-Y, Lehtisalo J, Lerch O, Lleo A, Longstreth W, Lopez O, de Munain ALopez, Love S, Löwemark M, Luckcuck L, Lunetta KL, Ma Y, Macías J, MacLeod CA, Maier W, Mangialasche F, Spallazzi M, Marquié M, Marshall R, Martin ER, Montes AMartín, Rodríguez CMartínez, Masullo C, Mayeux R, Mead S, Mecocci P, Medina M, Meggy A, Mehrabian S, Mendoza S, Menéndez-González M, Mir P, Moebus S, Mol M, Molina-Porcel L, Montrreal L, Morelli L, Moreno F, Morgan K, Mosley T, Nöthen MM, Muchnik C, Mukherjee S, Nacmias B, Ngandu T, Nicolas G, Nordestgaard BG, Olaso R, Orellana A, Orsini M, Ortega G, Padovani A, Paolo C, Papenberg G, Parnetti L, Pasquier F, Pastor P, Peloso G, Pérez-Cordón A, Pérez-Tur J, Pericard P, Peters O, Pijnenburg YAL, Pineda JA, Piñol-Ripoll G, Pisanu C, Polak T, Popp J, Posthuma D, Priller J, Puerta R, Quenez O, Quintela I, Thomassen JQvist, Rábano A, Rainero I, Rajabli F, Ramakers I, Real LM, Reinders MJT, Reitz C, Reyes-Dumeyer D, Ridge P, Riedel-Heller S, Riederer P, Roberto N, Rodriguez-Rodriguez E, Rongve A, Allende IRosas, Rosende-Roca M, Royo JLuís, Rubino E, Rujescu D, Sáez MEugenia, Sakka P, Saltvedt I, Sanabria Á, Sánchez-Arjona MBernal, Sanchez-Garcia F, Juan PSánchez, Sánchez-Valle R, Sando SB, Sarnowski C, Satizabal CL, Scamosci M, Scarmeas N, Scarpini E, Scheltens P, Scherbaum N, Scherer M, Schmid M, Schneider A, Schott JM, Selbæk G, Seripa D, Serrano M, Sha J, Shadrin AA, Skrobot O, Slifer S, Snijders GJL, Soininen H, Solfrizzi V, Solomon A, Song Y, Sorbi S, Sotolongo-Grau O, Spalletta G, Spottke A, Squassina A, Stordal E, Tartan JPablo, Tarraga L, Tesi N, Thalamuthu A, Thomas T, Tosto G, Traykov L, Tremolizzo L, Tybjærg-Hansen A, Uitterlinden A, Ullgren A, Ulstein I, Valero S, Valladares O, Van Broeckhoven C, Vance J, Vardarajan BN, van der Lugt A, Van Dongen J, van Rooij J, van Swieten J, Vandenberghe R, Verhey F, Vidal J-S, Vogelgsang J, Vyhnalek M, Wagner M, Wallon D, San Wang L-, Wang R, Weinhold L, Wiltfang J, Windle G, Woods B, Yannakoulia M, Zare H, Zhao Y, Zhang X, Zhu C, Zulaica M, Farrer LA, Psaty BM, Ghanbari M, Raj T, Sachdev P, Mather K, Jessen F, M Ikram A, de Mendonça A, Hort J, Tsolaki M, Pericak-Vance MA, Amouyel P, Williams J, Frikke-Schmidt R, Clarimon J, Deleuze J-F, Rossi G, Seshadri S, Andreassen OA, Ingelsson M, Hiltunen M, Sleegers K, Schellenberg GD, van Duijn CM, Sims R, van der Flier WM, Ruiz A, Ramirez A, Lambert J-C. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nat Genet. 2022 ;54(4):412-436.
Manor J, Calame DG, Gijavanekar C, Tran A, Fatih JM, Lalani SR, Mizerik E, Parnes M, Mehta VP, Adesina AM, Lupski JR, Scaglia F, Elsea SH. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 ;145(5):e36-e40.
Taşdelen E, Calame DG, Akay G, Mitani T, Fatih JM, Herman I, Du H, Coban-Akdemir Z, Marafi D, Jhangiani SN, Posey JE, Gibbs RA, Altıparmak T, Kutlay NYürür, Lupski JR, Pehlivan D. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Am J Med Genet A. 2022 ;188(7):2153-2161.
Zou G, Qi R, Ma M, Fu S, Liang Q, Bi X, Wang C, Hu X, Cai Y, Sheng X. A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. Ophthalmic Genet. 2022 ;43(2):210-217.
Smith HStevens, Sanchez CE, Maag R, Buentello A, Murdock DR, Metcalf GA, Hadley TD, Riconda DL, Boerwinkle E, Wehrens XHT, Ballantyne CM, Gibbs RA, McGuire AL, Pereira S. Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study. Circ Genom Precis Med. 2022 ;15(6):e003605.
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCCaldas, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, V Sutton R, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 ;43(7):900-918.
Zhang J, Dutta D, Köttgen A, Tin A, Schlosser P, Grams ME, Harvey B, Yu B, Boerwinkle E, Coresh J, Chatterjee N. Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies. Nat Genet. 2022 ;54(5):593-602.