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SCOTT MCLEAN

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address333 NORTH SANTA ROSA ST.
San Antonio, 78207
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics


    Collapse Bibliographic 
    Collapse selected publications
    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. Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carr? W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quelin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean S, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dup? V. DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations. Genet Med. 2024 Mar 23; 101126. PMID: 38529886.
      Citations:    Fields:    
    2. Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SC, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Texome Project, Owen N, Vossaert L, Liu P, Bellen H, Wangler M. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 Feb 28; 101102. PMID: 38431799.
      Citations:    Fields:    
    3. Salmon PM, McLean S, Carden T, King BJ, Thompson J, Baber C, Stanton NA, Read GJM. When tomorrow comes: A prospective risk assessment of a future artificial general intelligence-based uncrewed combat aerial vehicle system. Appl Ergon. 2024 May; 117:104245. PMID: 38320386.
      Citations:    Fields:    Translation:Humans
    4. Naughton M, Salmon PM, Kerherv? HA, McLean S. Applying a systems thinking lens to anti-doping: A systematic review identifying the contributory factors to doping in sport. J Sports Sci. 2024 Jan 29; 1-15. PMID: 38284139.
      Citations:    Fields:    
    5. Dodd K, Solomon C, Naughton M, Salmon PM, McLean S. What Enables Child Sexual Abuse in Sport? A Systematic Review. Trauma Violence Abuse. 2024 04; 25(2):1599-1613. PMID: 37614195.
      Citations: 1     Fields:    Translation:Humans
    6. Roof E, Deal CL, McCandless SE, Cowan RL, Miller JL, Hamilton JK, Roeder ER, McCormack SE, Roshan Lal TR, Abdul-Latif HD, Haqq AM, Obrynba KS, Torchen LC, Vidmar AP, Viskochil DH, Chanoine JP, Lam CKL, Pierce MJ, Williams LL, Bird LM, Butler MG, Jensen DE, Myers SE, Oatman OJ, Baskaran C, Chalmers LJ, Fu C, Alos N, McLean SD, Shah A, Whitman BY, Blumenstein BA, Leonard SF, Ernest JP, Cormier JW, Cotter SP, Ryman DC. Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial. J Clin Endocrinol Metab. 2023 06 16; 108(7):1696-1708. PMID: 36633570; PMCID: PMC10271225.
      Citations: 2     Fields:    Translation:HumansPHPublic HealthCTClinical Trials
    7. McLean S, Naughton M, Kerherv? H, Salmon PM. From Anti-doping-I to Anti-doping-II: Toward a paradigm shift for doping prevention in sport. Int J Drug Policy. 2023 05; 115:104019. PMID: 37028132.
      Citations:    Fields:    Translation:Humans
    8. Henriquez-Lopez CJ, McLean S. Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report. Clin Dysmorphol. 2023 04 01; 32(2):77-79. PMID: 36779796.
      Citations:    Fields:    Translation:Humans
    9. Schraw JM, Benjamin RH, Shumate CJ, Canfield MA, Scott DA, McLean SD, Northrup H, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Agopian AJ, Lupo PJ. Patterns of co-occurring birth defects in children with anotia and microtia. Am J Med Genet A. 2023 03; 191(3):805-812. PMID: 36541232; PMCID: PMC9928897.
      Citations:    Fields:    Translation:Humans
    10. Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, M?ller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H, Maroofian R. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genet Med. 2023 01; 25(1):135-142. PMID: 36399134; PMCID: PMC10620944.
      Citations:    Fields:    Translation:Humans
    11. McCormack P, Read GJM, Hulme A, Lane BR, McLean S, Salmon PM. Using systems thinking-based risk assessment methods to assess hazardous manual tasks: a comparison of Net-HARMS, EAST-BL, FRAM and STPA. Ergonomics. 2023 May; 66(5):609-626. PMID: 35866642.
      Citations:    Fields:    
    12. McLean S, Coventon L, Finch CF, Salmon PM. Incident reporting in the outdoors: a systems-based analysis of injury, illness, and psychosocial incidents in led outdoor activities in Australia. Ergonomics. 2022 Oct; 65(10):1421-1433. PMID: 35147484.
      Citations:    Fields:    
    13. McLean S, Coventon L, Finch CF, Dallat C, Carden T, Salmon PM. Evaluation of a systems ergonomics-based incident reporting system. Appl Ergon. 2022 Apr; 100:103651. PMID: 34837751.
      Citations:    Fields:    Translation:Humans
    14. Ludorf KL, Benjamin RH, Navarro Sanchez ML, McLean SD, Northrup H, Mitchell LE, Langlois PH, Canfield MA, Scheuerle AE, Scott DA, Schaaf CP, Ray JW, Oluwafemi O, Chen H, Swartz MD, Lupo PJ, Agopian AJ. Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadias? [J Pediatr Urol 17 (2021) 64.e1-64.e8]. J Pediatr Urol. 2021 Aug; 17(4):e1. PMID: 34325994.
      Citations:    Fields:    
    15. Ortega V, Louie RJ, Jones MA, Chaubey A, DuPont BR, Britt A, Ray J, McLean SD, Littlejohn RO, Velagaleti G. Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes? Mol Cytogenet. 2021 Jul 14; 14(1):37. PMID: 34261519; PMCID: PMC8278679.
      Citations: 1     
    16. Benjamin RH, Scheuerle AE, Scott DA, Navarro Sanchez ML, Langlois PH, Canfield MA, Northrup H, Schaaf CP, Ray JW, McLean SD, Chen H, Swartz MD, Lupo PJ, Agopian AJ. Birth defect co-occurrence patterns in the Texas Birth Defects Registry. Pediatr Res. 2022 04; 91(5):1278-1285. PMID: 34193968; PMCID: PMC8716666.
      Citations:    Fields:    Translation:Humans
    17. Maroofian R, Nguyen TTM, Karimiani EG, Kirmani S, Akbar F, Ibrahim S, Afroze B, Doosti M, Ashrafzadeh F, Babaei M, Efthymiou S, Christoforou M, Sultan T, Ladda RL, McLaughlin HM, Truty R, Mahida S, Cohen JS, Baranano K, Ismail FY, Patel MS, Lehman A, Edmondson AC, Nagy A, Walker MA, Mercimek-Andrews S, Maki Y, Sachdev R, Macintosh R, Palmer EE, Mancini GMS, Barakat TS, Steinfeld R, Stettner GM, Wagner M, Wortmann SB, Kini U, Brady AF, Stals KL, Ismayilova N, Ellard S, Bernardo D, Nugent K, McLean SD, Antonarakis SE, Houlden H, Kinoshita T, Campeau PM, Murakami Y, Tremblay-Lagani?re C, R?sch CT. PIGG variant pathogenicity assessment reveals characteristic features within 19 families. Genet Med. 2021 10; 23(10):1873-1881. PMID: 34113002; PMCID: PMC9900493.
      Citations: 1     Fields:    Translation:Humans
    18. Sanchez MLN, Benjamin RH, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Chen H, Lupo PJ, Agopian AJ. Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate. Cleft Palate Craniofac J. 2022 Apr; 59(4):417-426. PMID: 33906455; PMCID: PMC8954502.
      Citations: 1     Fields:    Translation:Humans
    19. Salmon PM, Stevens N, McLean S, Hulme A, Read GJM. Human Factors and Ergonomics and the management of existential threats: A work domain analysis of a COVID-19 return from lockdown restrictions system. Hum Factors Ergon Manuf. 2021 Jul; 31(4):412-424. PMID: 34230798; PMCID: PMC8250482.
      Citations: 1     
    20. Diaz D, Benjamin RH, Navarro Sanchez ML, Mitchell LE, Langlois PH, Canfield MA, Chen H, Scheuerle AE, Schaaf CP, Scott DA, Northrup H, Ray JW, McLean SD, Swartz MD, Ludorf KL, Lupo PJ, Agopian AJ. Patterns of congenital anomalies among individuals with trisomy 13 in Texas. Am J Med Genet A. 2021 06; 185(6):1787-1793. PMID: 33749998; PMCID: PMC8193718.
      Citations:    Fields:    Translation:Humans
    21. Harms KL, Zhao L, Johnson B, Wang X, Carskadon S, Palanisamy N, Rhodes DR, Mannan R, Vo JN, Choi JE, Chan MP, Fullen DR, Patel RM, Siddiqui J, Ma VT, Hrycaj S, McLean SA, Hughes TM, Bichakjian CK, Tomlins SA, Harms PW. Virus-positive Merkel Cell Carcinoma Is an Independent Prognostic Group with Distinct Predictive Biomarkers. Clin Cancer Res. 2021 05 01; 27(9):2494-2504. PMID: 33547200; PMCID: PMC8995051.
      Citations: 11     Fields:    Translation:HumansCells
    22. McLean S, Salmon PM, Gorman AD, Dodd K, Solomon C. The Communication and Passing Contributions of Playing Positions in a Professional Soccer Team. J Hum Kinet. 2021 Jan; 77:223-234. PMID: 34168706; PMCID: PMC8008296.
      Citations:    
    23. McLean S, Read GJ, Ramsay K, Hogarth L, Kean B. Designing success: Applying Cognitive Work Analysis to optimise a para sport system. Appl Ergon. 2021 May; 93:103369. PMID: 33493871.
      Citations: 2     Fields:    Translation:Humans
    24. McLean S, Rath D, Lethlean S, Hornsby M, Gallagher J, Anderson D, Salmon PM. With Crisis Comes Opportunity: Redesigning Performance Departments of Elite Sports Clubs for Life After a Global Pandemic. Front Psychol. 2020; 11:588959. PMID: 33551908; PMCID: PMC7855175.
      Citations:    
    25. Schraw JM, Benjamin RH, Scott DA, Brooks BP, Hufnagel RB, McLean SD, Northrup H, Langlois PH, Canfield MA, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Swartz MD, Mitchell LE, Agopian AJ, Lupo PJ. A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia. Ophthalmic Epidemiol. 2021 10; 28(5):428-435. PMID: 33345678; PMCID: PMC8214631.
      Citations: 1     Fields:    Translation:Humans
    26. Ludorf KL, Benjamin RH, Navarro Sanchez ML, McLean SD, Northrup H, Mitchell LE, Langlois PH, Canfield MA, Scheuerle AE, Scott DA, Schaaf CP, Ray JW, Oluwafemi O, Chen H, Swartz MD, Lupo PJ, Agopian AJ. Patterns of co-occurring birth defects among infants with hypospadias. J Pediatr Urol. 2021 02; 17(1):64.e1-64.e8. PMID: 33281045; PMCID: PMC7935759.
      Citations:    Fields:    Translation:Humans
    27. Hulme A, McLean S, Dallat C, Walker GH, Waterson P, Stanton NA, Salmon PM. Systems thinking-based risk assessment methods applied to sports performance: A comparison of STPA, EAST-BL, and Net-HARMS in the context of elite women's road cycling. Appl Ergon. 2021 Feb; 91:103297. PMID: 33161182.
      Citations: 1     Fields:    Translation:Humans
    28. Oluwafemi OO, Benjamin RH, Navarro Sanchez ML, Scheuerle AE, Schaaf CP, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scott DA, Northrup H, Ray JW, McLean SD, Ludorf KL, Chen H, Lupo PJ, Agopian AJ. Birth defects that co-occur with non-syndromic gastroschisis and omphalocele. Am J Med Genet A. 2020 11; 182(11):2581-2593. PMID: 32885608; PMCID: PMC8259712.
      Citations:    Fields:    Translation:Humans
    29. Hanks JE, Kovatch KJ, Ali SA, Roberts E, Durham AB, Smith JD, Bradford CR, Malloy KM, Boonstra PS, Lao CD, McLean SA. Sentinel Lymph Node Biopsy in Head and Neck Melanoma: Long-term Outcomes, Prognostic Value, Accuracy, and Safety. Otolaryngol Head Neck Surg. 2020 04; 162(4):520-529. PMID: 32041486; PMCID: PMC8012010.
      Citations: 1     Fields:    Translation:Humans
    30. Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ, Maric I, Littlejohn RO, Onyekweli T, Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan MCV. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Mol Genet Metab. 2020 05; 130(1):49-57. PMID: 32165008; PMCID: PMC7303973.
      Citations: 4     Fields:    Translation:HumansCells
    31. Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, Amiel J, Rosenfeld JA, Yang Y, Patterson MC, Pichurin P, McLean SD, Scott DA, Whalen S, Keren B, Courtin T. Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO. Am J Med Genet A. 2020 04; 182(4):652-658. PMID: 31883306.
      Citations: 3     Fields:    Translation:Humans
    32. Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bosanko KB, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Hurst ACE, Jhangiani SN, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Lupski JR, Beaudet AL, Wangler MF, Bofferding L, Bouassida S, Heck S, Isidor B, Rocha ML. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654. PMID: 31769566; PMCID: PMC7720429.
      Citations: 9     Fields:    Translation:Humans
    33. Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, M?ller RS. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurol Genet. 2019 Dec; 5(6):e373. PMID: 32042906; PMCID: PMC6927360.
      Citations:    
    34. Hulme A, McLean S, Read GJM, Dallat C, Bedford A, Salmon PM. Sports Organizations as Complex Systems: Using Cognitive Work Analysis to Identify the Factors Influencing Performance in an Elite Netball Organization. Front Sports Act Living. 2019; 1:56. PMID: 33344979; PMCID: PMC7739835.
      Citations: 3     
    35. McLean S, Read GJM, Hulme A, Dodd K, Gorman AD, Solomon C, Salmon PM. Beyond the Tip of the Iceberg: Using Systems Archetypes to Understand Common and Recurring Issues in Sports Coaching. Front Sports Act Living. 2019; 1:49. PMID: 33344972; PMCID: PMC7739827.
      Citations: 4     
    36. Benjamin RH, Yu X, Navarro Sanchez ML, Chen H, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Lupo PJ, Agopian AJ. Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries. Birth Defects Res. 2019 11 01; 111(18):1356-1364. PMID: 31313535; PMCID: PMC7814855.
      Citations: 8     Fields:    Translation:Humans
    37. Smith JD, Birkeland AC, Rosko AJ, Hoesli RC, Foltin SK, Swiecicki P, Mierzwa M, Chinn SB, Shuman AG, Malloy KM, Casper KA, McLean SA, Wolf GT, Bradford CR, Prince ME, Brenner JC, Spector ME. Mutational profiles of persistent/recurrent laryngeal squamous cell carcinoma. Head Neck. 2019 02; 41(2):423-428. PMID: 30548484; PMCID: PMC6431792.
      Citations: 2     Fields:    Translation:Humans
    38. Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, de Vries BBA, Kerr B, Marcelis C, Deshpande C, Ruivenkamp CAL, Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM, Mikat B, Isidor B, Schluth-Bolard C, Wieczorek D, L?decke HJ, Strom TM, Edery P, K?ry S. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2018 06 07; 102(6):1195-1203. PMID: 29861108; PMCID: PMC5992133.
      Citations: 12     Fields:    Translation:HumansCells
    39. Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 08 14; 9(1):73. PMID: 28807008; PMCID: PMC5557075.
      Citations: 18     Fields:    Translation:Humans
    40. von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Sisodiya SM, Helbig I, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Louren?o C, M?ller RS, Pena SDJ. DNM1 encephalopathy: A new disease of vesicle fission. Neurology. 2017 Jul 25; 89(4):385-394. PMID: 28667181; PMCID: PMC5574673.
      Citations: 30     Fields:    Translation:HumansCells
    41. Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA, Andrieux J, Stray-Pedersen A, T?rring PM, Powis Z. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017 Jun 01; 100(6):907-925. PMID: 28575647; PMCID: PMC5473733.
      Citations: 45     Fields:    Translation:HumansCells
    42. Tokita MJ, Braxton AA, Shao Y, Lewis AM, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Walkiewicz MA, Vincent M, K?ry S, Besnard T, Isidor B, Latypova X, B?zieau S, Schaaf CP. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727. PMID: 27545676; PMCID: PMC5011061.
      Citations: 19     Fields:    Translation:Humans
    43. Liu P, Erez A, Nagamani SC, Dhar SU, Kolodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W, Hern?ndez-Almaguer D. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903. PMID: 21925314; PMCID: PMC3242451.
      Citations: 196     Fields:    Translation:HumansCells
    44. Erman AB, Collar RM, Griffith KA, Lowe L, Sabel MS, Bichakjian CK, Wong SL, McLean SA, Rees RS, Johnson TM, Bradford CR. Sentinel lymph node biopsy is accurate and prognostic in head and neck melanoma. Cancer. 2012 Feb 15; 118(4):1040-7. PMID: 21773971.
      Citations:    
    45. McLean SD. But is the platter really silver? Genet Med. 2010 Feb; 12(2):126. PMID: 20160573.
      Citations:    
    46. Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Brunner HG, Carey JC, Hehr U, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M, Domen? S, V?lez JI, Nj?lstad PR, M?sebeck J. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet. 2009 Jun; 46(6):389-98. PMID: 19346217; PMCID: PMC3510661.
      Citations: 40     Fields:    Translation:Humans
    47. Lin AE, Yuzuriha S, McLean S, Mulliken JB. Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome. J Craniofac Surg. 2009 Mar; 20 Suppl 1:608-11. PMID: 19795528.
      Citations: 3     Fields:    Translation:Humans
    48. Pinsker JE, Rogers W, McLean S, Schaefer FV, Fenton C. Pseudohypoparathyroidism type 1a with congenital hypothyroidism. J Pediatr Endocrinol Metab. 2006 Aug; 19(8):1049-52. PMID: 16995592.
      Citations: 12     Fields:    Translation:Humans
    49. Hagerman RJ, Staley LW, O'Conner R, Lugenbeel K, Nelson D, McLean SD, Taylor A. Learning-disabled males with a fragile X CGG expansion in the upper premutation size range. Pediatrics. 1996 Jan; 97(1):122-6. PMID: 8545206.
      Citations: 31     Fields:    Translation:HumansCells
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