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REBECCA LITTLEJOHN

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address333 NORTH SANTA ROSA ST.
San Antonio, TX 78207
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    Other Positions
    TitleAssistant Professor
    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. 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:    
    2. Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 03 02; 110(3):499-515. PMID: 36724785; PMCID: PMC10027477.
      Citations: 1     Fields:    Translation:HumansCells
    3. Streff H, Uhles CL, Fisher H, Franciskovich R, Littlejohn RO, Gerard A, Hudnall J, Smith HS. Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas. Genet Med. 2023 03; 25(3):100350. PMID: 36547467.
      Citations: 1     Fields:    Translation:Humans
    4. 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
    5. Bi W, Yuan B, Liu P, Murry JB, Qin X, Xia F, Quach T, Cooper LM, Wiszniewska J, Hixson P, Peacock S, Tonk VS, Huff RW, Ortega V, Lupski JR, Scherer SE, Littlejohn RO, Velagaleti GVN, Roeder ER, Cheung SW. Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. J Med Genet. 2023 06; 60(6):547-556. PMID: 36150828.
      Citations:    
    6. Smith HS, Franciskovich R, Lewis AM, Gerard A, Littlejohn RO, Nugent K, Rodriguez J, Streff H. Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics. Genet Med. 2021 05; 23(5):950-955. PMID: 33473204.
      Citations: 2     Fields:    Translation:Humans
    7. 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
    8. 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
    9. Szafranski P, Kosmider E, Liu Q, Karolak JA, Currie L, Parkash S, Kahler SG, Roeder E, Littlejohn RO, DeNapoli TS, Shardonofsky FR, Henderson C, Powers G, Poisson V, Oligny L, Michaud JL, Janssens S, De Coen K, Van Dorpe J, Dheedene A, Harting MT, Weaver MD, Khan AM, Tatevian N, Wambach J, Gibbs KA, Popek E, Gambin A, Stankiewicz P, B?rub? D. LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. Hum Mutat. 2018 12; 39(12):1916-1925. PMID: 30084155; PMCID: PMC6240370.
      Citations: 7     Fields:    Translation:HumansCells
    10. Braun DA, Rao J, Mollet G, Schapiro D, Tan W, Gribouval O, Boyer O, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Lovric S, Furlano M, Sanchez-Ferras O, Hu JF, Boschat AC, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, Zenker M, Antignac C, Hildebrandt F, Daugeron MC, Revy P, Boddaert N, Collinet B, Martin G, Liger D, Guerrera IC, Sanquer S, Menten B, Basta T, Matejas V, Lemyre E, van Tilbeurgh H. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538. PMID: 28805828; PMCID: PMC5819591.
      Citations: 73     Fields:    Translation:HumansAnimalsCells
    11. 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
    12. Santiago-Sim T, Burrage LC, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Nagakura H, Immken LL, Littlejohn RO, Roeder E, EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Heaney JD, Walkiewicz MA, Ebstein F, Lehmann A, Cogn? B, K?ry S, Besnard T, Isidor B, B?zieau S, Hazart I, Kloetzel PM. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 06; 100(4):676-688. PMID: 28343629; PMCID: PMC5384096.
      Citations: 27     Fields:    Translation:HumansAnimals
    13. Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W, DDD Study, CAUSES Study, Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet. 2017 Jan 05; 100(1):91-104. PMID: 27939640; PMCID: PMC5223032.
      Citations: 27     Fields:    Translation:HumansAnimalsCells
    14. 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
    15. Pearson T, Nielsen SB, Becker TA, Sattler SG, Schneider MC, Rosenfeld JA, Xia F, Desai S, Roeder E, Kimonis V, Schneider A, Littlejohn RO, Douzgou S, Srour M, Caron V, L?vesque S, Delrue MA, Hamdan FF, Kibar Z, Bitoun P, Chassaing N, Tremblay A, Michaud JL. Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Hum Mutat. 2016 08; 37(8):786-93. PMID: 27120018.
      Citations: 17     Fields:    Translation:HumansCells
    16. Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Chung BH, Wong WL, Chu YWY, Mok GTK, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Brosens E, Tibboel D, de Klein A, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Menten B, Chawla J, Payton DJ, Phillips GE, Maystadt I. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586. PMID: 27071622; PMCID: PMC5518754.
      Citations: 37     Fields:    Translation:HumansCells
    17. Okashah R, Schoch K, Hooper SR, Shashi V, Callanan N. Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome. J Genet Couns. 2015 Oct; 24(5):752-9. PMID: 25540895.
      Citations: 2     Fields:    Translation:Humans
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