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Yuri Zarate to Female

This is a "connection" page, showing publications Yuri Zarate has written about Female.

 
Connection Strength
  
 
 
1.368
  
  1. den Hoed J, Hashimoto H, Khan M, Semmekrot F, Bosanko KA, Abe-Hatano C, Nakagawa E, Venselaar H, Quercia N, Chad L, Kurosaka H, Rondeau S, Fisher SE, Yamamoto S, Zarate YA. Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 Oct 23; 61(11):1062-1067.
    View in: PubMed
    Score: 0.058
  2. Zarate YA, Bosanko K, Derar N, Fish JL. Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome. Clin Genet. 2024 Aug; 106(2):209-213.
    View in: PubMed
    Score: 0.056
  3. Zarate YA, Bosanko K, Andres A, Fish JL. Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance. Am J Med Genet A. 2024 02; 194(2):203-210.
    View in: PubMed
    Score: 0.054
  4. Zarate YA, Kannan A, Bosanko KA, Caffrey AR. Growth in individuals with SATB2-associated syndrome. Am J Med Genet A. 2022 10; 188(10):2952-2957.
    View in: PubMed
    Score: 0.050
  5. Zarate YA, Bosanko KA, Caffrey AR. SATB2-associated syndrome in adolescents and adults. Am J Med Genet A. 2021 08; 185(8):2391-2398.
    View in: PubMed
    Score: 0.046
  6. Zarate YA, ?rsell JL, Bosanko K, Srikanth S, Cascio L, Pauly R, Boccuto L. Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations. Metab Brain Dis. 2021 06; 36(5):1049-1056.
    View in: PubMed
    Score: 0.045
  7. Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RV. Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clin Genet. 2021 04; 99(4):547-557.
    View in: PubMed
    Score: 0.045
  8. Lewis H, Samanta D, ?rsell JL, Bosanko KA, Rowell A, Jones M, Dale RC, Taravath S, Hahn CD, Krishnakumar D, Chagnon S, Keller S, Hagebeuk E, Pathak S, Bebin EM, Arndt DH, Alexander JJ, Mainali G, Coppola G, Maclean J, Sparagana S, McNamara N, Smith DM, Raggio V, Cruz M, Fern?ndez-Ja?n A, Kava MP, Emrick L, Fish JL, Vanderver A, Helman G, Pierson TM, Zarate YA. Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome. Pediatr Neurol. 2020 11; 112:94-100.
    View in: PubMed
    Score: 0.042
  9. Thomason A, Pankey E, Nutt B, Caffrey AR, Zarate YA. Speech, language, and feeding phenotypes of SATB2-associated syndrome. Clin Genet. 2019 12; 96(6):485-492.
    View in: PubMed
    Score: 0.040
  10. 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, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Mi?a?r S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
    View in: PubMed
    Score: 0.040
  11. Zarate YA, Boccuto L, Srikanth S, Pauly R, Ocal E, Balmakund T, Hinkle K, Stefans V, Schaefer GB, Collins RT. Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. Am J Med Genet A. 2019 06; 179(6):1047-1052.
    View in: PubMed
    Score: 0.039
  12. Scott J, Adams C, Beetstra S, Zarate YA. SATB2-associated syndrome (SAS) and associated dental findings. Spec Care Dentist. 2019 Mar; 39(2):220-224.
    View in: PubMed
    Score: 0.039
  13. Scott J, Adams C, Simmons K, Feather A, Jones J, Hartzell L, Wesley L, Johnson A, Fish J, Bosanko K, Beetstra S, Zarate YA. Dental radiographic findings in 18 individuals with SATB2-associated syndrome. Clin Oral Investig. 2018 Nov; 22(8):2947-2951.
    View in: PubMed
    Score: 0.038
  14. Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935.
    View in: PubMed
    Score: 0.037
  15. Ittleman BR, Mckissick J, Bosanko KA, Ocal E, Golinko M, Zarate YA. Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis. Am J Med Genet A. 2018 02; 176(2):487-491.
    View in: PubMed
    Score: 0.036
  16. Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. Am J Med Genet A. 2016 08; 170(8):1967-73.
    View in: PubMed
    Score: 0.032
  17. Zarate YA, Clingenpeel R, Sellars EA, Tang X, Kaylor JA, Bosanko K, Linam LE, Byers PH. COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse. Am J Med Genet A. 2016 07; 170(7):1858-62.
    View in: PubMed
    Score: 0.032
  18. Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC. Lessons from a pair of siblings with BPAN. Eur J Hum Genet. 2016 07; 24(7):1080-3.
    View in: PubMed
    Score: 0.031
  19. Zarate YA, Sellars E, Lepard T, Tang X, Collins RT. Aortic dilation, genetic testing, and associated diagnoses. Genet Med. 2016 Apr; 18(4):356-63.
    View in: PubMed
    Score: 0.030
  20. Zarate YA, Sellars E, Lepard T, Carlo WF, Tang X, Collins RT. Aortic dilation in pediatric patients. Eur J Pediatr. 2015 Dec; 174(12):1585-92.
    View in: PubMed
    Score: 0.030
  21. Zarate YA, Perry H, Ben-Omran T, Sellars EA, Stein Q, Almureikhi M, Simmons K, Klein O, Fish J, Feingold M, Douglas J, Kruer MC, Si Y, Mao R, McKnight D, Gibellini F, Retterer K, Slavotinek A. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet A. 2015 May; 167A(5):1026-32.
    View in: PubMed
    Score: 0.030
  22. Zarate YA, Bosanko KA, Bhoj E, Ganetzky R, Starr LJ, Zackai EH, Schaefer GB. Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses. Am J Med Genet A. 2015 Sep; 167A(9):2168-75.
    View in: PubMed
    Score: 0.030
  23. Zarate YA, Farrell JM, Alfaro MP, Elhassan NO. STAR syndrome is part of the differential diagnosis of females with anorectal malformations. Am J Med Genet A. 2015 Aug; 167A(8):1940-3.
    View in: PubMed
    Score: 0.030
  24. Campbell CL, Collins RT, Zarate YA. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion. Birth Defects Res A Clin Mol Teratol. 2014 Dec; 100(12):985-90.
    View in: PubMed
    Score: 0.029
  25. Zarate YA, Lepard T, Sellars E, Kaylor JA, Alfaro MP, Sailey C, Schaefer GB, Collins RT. Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature. Am J Med Genet A. 2014 Aug; 164A(8):1998-2002.
    View in: PubMed
    Score: 0.028
  26. Zarate YA, Bell C, Schaefer GB. Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. Cleft Palate Craniofac J. 2015 Mar; 52(2):237-9.
    View in: PubMed
    Score: 0.028
  27. Zarate YA, Bell C, Schaefer B. Description of another case of 3q26.33-3q27.2 microdeletion supports a recognizable phenotype. Eur J Med Genet. 2013 Nov; 56(11):624-5.
    View in: PubMed
    Score: 0.027
  28. Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE. Clinical utility of the X-chromosome array. Am J Med Genet A. 2013 Jan; 161A(1):120-30.
    View in: PubMed
    Score: 0.025
  29. Zarate YA, Dwivedi A, Bartel FO, Corning K, Dupont BR. 47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal. Am J Med Genet A. 2011 Feb; 155A(2):386-91.
    View in: PubMed
    Score: 0.022
  30. Zarate YA, Martin LJ, Hopkin RJ, Bender PL, Zhang X, Saal HM. Evaluation of growth in patients with isolated cleft lip and/or cleft palate. Pediatrics. 2010 Mar; 125(3):e543-9.
    View in: PubMed
    Score: 0.021
  31. Zarate YA, Hopkin RJ. Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome. Am J Med Genet A. 2009 Jul; 149A(7):1569-70.
    View in: PubMed
    Score: 0.020
  32. Zarate YA, Pacheco MC, Bove KE, Gorlin R, Zhao H, Hopkin RJ. Phenotypic and microscopic description of a new case of Ermine phenotype. Am J Med Genet A. 2009 Jun; 149A(6):1253-6.
    View in: PubMed
    Score: 0.020
  33. Zarate YA, Hopkin RJ. Fabry's disease. Lancet. 2008 Oct 18; 372(9647):1427-35.
    View in: PubMed
    Score: 0.019
  34. Zarate YA, Kogan JM, Schorry EK, Smolarek TA, Hopkin RJ. A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature. Am J Med Genet A. 2007 Feb 01; 143A(3):265-70.
    View in: PubMed
    Score: 0.017
  35. Boyanton BL, Zarate YA, Broadfoot BG, Kelly T, Crawford BD. NR3C2 microdeletions-an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review. Lab Med. 2024 Sep 04; 55(5):640-644.
    View in: PubMed
    Score: 0.014
  36. Connor BS, Algaze CA, Narkeviciute A, Anguiano B, Pariani M, Zarate YA, Collins RT. Prevalence and Outcomes of Primary Left Ventricular Dysfunction in Marfan Syndrome. Am J Cardiol. 2022 07 15; 175:119-126.
    View in: PubMed
    Score: 0.012
  37. Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hanc?rov? M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenk?lbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ?L, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalov? D, Rhodes L, Sanders VR, Sedl?cek Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, T?nne E, Tveten K, Vitiello G, Vlckov? M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873.
    View in: PubMed
    Score: 0.011
  38. Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ?L, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, K?ry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, M?ller RS, Scheffer IE. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Genet Med. 2021 02; 23(2):363-373.
    View in: PubMed
    Score: 0.011
  39. Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Am J Med Genet A. 2020 07; 182(7):1576-1591.
    View in: PubMed
    Score: 0.011
  40. Lechich KM, Zarate YA, Daily JA, Collins RT. Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls. Pediatr Cardiol. 2020 Aug; 41(6):1199-1205.
    View in: PubMed
    Score: 0.011
  41. Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68.
    View in: PubMed
    Score: 0.010
  42. Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Monaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmermann MT. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eur J Med Genet. 2020 Apr; 63(4):103817.
    View in: PubMed
    Score: 0.010
  43. Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet. 2019 09 05; 105(3):606-615.
    View in: PubMed
    Score: 0.010
  44. Cotton AP, Gokarakonda S, Caffrey AR, Zarate YA, Kumar N. Behavioral phenotype and sleep problems in SATB2-associated syndrome. Dev Med Child Neurol. 2020 07; 62(7):827-832.
    View in: PubMed
    Score: 0.010
  45. Nembhard WN, McElfish PA, Ayers B, Collins RT, Shan X, Rabie NZ, Zarate YA, Maity S, Cen R, Robbins JA. Nuclear radiation and prevalence of structural birth defects among infants born to women from the Marshall Islands. Birth Defects Res. 2019 10 01; 111(16):1192-1204.
    View in: PubMed
    Score: 0.010
  46. Szabo SM, Tomazos IC, Petryk A, Powell LC, Donato BMK, Zarate YA, Tiulpakov A, Martos-Moreno G?. Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review. Orphanet J Rare Dis. 2019 04 25; 14(1):85.
    View in: PubMed
    Score: 0.010
  47. Cogn? B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskj?ld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ?L, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ?L, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denomm?-Pichon AS, F?rec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, B?zieau S, K?ry S, Campeau PM. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541.
    View in: PubMed
    Score: 0.010
  48. Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Di?z NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Mui?o-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2018 10; 20(10):1236-1245.
    View in: PubMed
    Score: 0.009
  49. Tanaka AJ, Cho MT, Willaert R, Retterer K, Zarate YA, Bosanko K, Stefans V, Oishi K, Williamson A, Wilson GN, Basinger A, Barbaro-Dieber T, Ortega L, Sorrentino S, Gabriel MK, Anderson IJ, Sacoto MJG, Schnur RE, Chung WK. De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6).
    View in: PubMed
    Score: 0.009
  50. Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA. The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. Am J Med Genet A. 2017 Oct; 173(10):2814-2820.
    View in: PubMed
    Score: 0.009
  51. Hardin JS, Zarate YA, Callewaert B, Phillips PH, Warner DB. Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series. Ophthalmic Genet. 2018 Jan-Feb; 39(1):29-34.
    View in: PubMed
    Score: 0.009
  52. Hills JA, Zarate YA, Danylchuk NR, Lepard T, Chen JC, Collins RT. Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use. Am J Med Genet A. 2017 May; 173(5):1194-1199.
    View in: PubMed
    Score: 0.009
  53. Collins RT, Phomakay V, Zarate YA, Tang X. Impact of aortic aneurysm on hospitalizations in patients with marfan syndrome: a multi-institutional study. Pediatr Cardiol. 2015 Jan; 36(1):132-9.
    View in: PubMed
    Score: 0.007
  54. Prada CE, Zarate YA, Hopkin RJ. Genetic causes of macroglossia: diagnostic approach. Pediatrics. 2012 Feb; 129(2):e431-7.
    View in: PubMed
    Score: 0.006
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