REBECCALITTLEJOHNREBECCA LITTLEJOHN0.000000000000000.000000000000007008LITTLEJOHN, REBECCAAssistant Professorprns:coAuthorOfcoauthor ofFaculty Rankprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:physicalNeighborOfphysical neighborprns:positionInDepartmentposition in departmentprns:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:similarTosimilar toprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierAddressvivo:address1address line 1vivo:addressCitycityvivo:addressPostalCodepostal codevivo:addressStatestate or provincevivo:authorInAuthorshipselected publicationsvivo:authorRankauthor rank in publicationAuthorshipDepartmentDivisionvivo:hasResearchArearesearch areasvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcevivo:mailingAddressmailing addressvivo:personInPositionpositionsPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonAuthorship 15826825540895Okashah R, Schoch K, Hooper SR, Shashi V, Callanan NJournal of genetic counselingParental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome. J Genet Couns. 2015 Oct; 24(5):752-9.J Genet Couns2014-12-27T00:00:002014Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome.74Professor10Assistant Professor27Clinical Assistant Professor14Associate Professor42Director47Distinguished Service ProfessorAuthorship 3217773827071622Szafranski 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, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, 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, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, 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 PHuman geneticsPathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.Hum Genet2016-04-12T00:00:002016Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.Authorship 3258391227120018Srour M, Caron V, Pearson T, Nielsen SB, L?vesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Sattler SG, Schneider MC, Bitoun P, Chassaing N, Rosenfeld JA, Xia F, Desai S, Roeder E, Kimonis V, Schneider A, Littlejohn RO, Douzgou S, Tremblay A, Michaud JLHuman mutationGain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Hum Mutat. 2016 08; 37(8):786-93.Hum Mutat2016-05-09T00:00:002016Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.Authorship 3268021227545676Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, K?ry S, Besnard T, Isidor B, Latypova X, B?zieau S, 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, Schaaf CP, Walkiewicz MAAmerican journal of human geneticsDe 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.Am J Hum Genet2016-08-18T00:00:002016De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.Authorship 654203327939640Yan 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 XJAmerican journal of human geneticsMutations 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.Am J Hum Genet2016-12-08T00:00:002016Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.Authorship 8686101128343629Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogn? B, K?ry S, Besnard T, Isidor B, B?zieau S, Hazart I, 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, Kloetzel PM, Heaney JD, Walkiewicz MAAmerican journal of human geneticsBiallelic 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.Am J Hum Genet2017-03-23T00:00:002017Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.28667181von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Louren?o C, 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, M?ller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I, Epi4K Consortium, EuroEPINOMICS-RES NLES Working GroupNeurologyDNM1 encephalopathy: A new disease of vesicle fission. Neurology. 2017 Jul 25; 89(4):385-394.Neurology2017-06-30T00:00:002017DNM1 encephalopathy: A new disease of vesicle fission.Authorship 8773305028805828Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, 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, Basta T, Matejas V, 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, Lemyre E, 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, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt FNature geneticsMutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49(10):1529-1538.Nat Genet2017-08-14T00:00:002017Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.true1Associate ProfessorAssociate Professortrue1ProfessorProfessortrue1Associate ProfessorAssociate Professortrue1ProfessorProfessortrue1ProfessorProfessortrue1Associate ProfessorAssociate Professortrue1Assistant ProfessorAssistant ProfessorD008607Disorders24810220.567045Intellectual DisabilityD009069Disorders882270.789081Movement Disorders30084155Szafranski 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, B?rub? D, 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 PHuman mutationLINE- 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.Hum Mutat2018-08-22T00:00:002018LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.D008831Disorders1233230.775468MicrocephalyCHSA Pedi-GeneticsELIZABETHROEDERELIZABETH ROEDER0.000000000000000.000000000000005526ROEDER, ELIZABETHAssociate ProfessorD010045Living Beings2384480.772066OutpatientsAuthorship 9342659Department of NeurologyDepartment of PediatricsDepartment of Molecular & Human GeneticsMolecular & Human GeneticsNeurologyPediatrics-AdministrationPediatrics-Adolescent & Sports MedPediatrics-Emergency MedicineBaylor College of MedicineWEIMINBIWEIMIN BI0.000000000000000.00000000000000241BI, WEIMINAssociate ProfessorJOSEPHJANKOVICJOSEPH JANKOVIC0.000000000000000.000000000000002398JANKOVIC, JOSEPHProfessorROOSEVELTALCORNROOSEVELT ALCORN0.000000000000000.000000000000002849ALCORN, ROOSEVELTClinical Assistant ProfessorJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessorHUGOBELLENHUGO BELLEN29.71010310000000-95.397396100000003292BELLEN, HUGODistinguished Service ProfessorMICHAELWANGLERMICHAEL WANGLER29.71009470000000-95.397401400000003839WANGLER, MICHAELAssociate ProfessorPAWELSTANKIEWICZPAWEL STANKIEWICZ29.71073630000000-95.39660450000000166STANKIEWICZ, PAWELProfessorRICHARDGIBBSRICHARD GIBBS0.000000000000000.000000000000003131GIBBS, RICHARDDistinguished Service ProfessorJORGEGOMEZJORGE GOMEZ0.000000000000000.000000000000003986GOMEZ, JORGEAssociate ProfessorPRZEMYSLAWSZAFRANSKIPRZEMYSLAW SZAFRANSKI0.000000000000000.000000000000004785SZAFRANSKI, PRZEMYSLAWAssociate ProfessorD0658861564090.68686Neurodevelopmental Disorderstrue1Associate ProfessorAssociate ProfessorHALEYSTREFFHALEY STREFF14699STREFF, HALEYAssistant ProfessorAuthorship 9616451431769566Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Lupski JR, Beaudet AL, Wangler MFHuman mutationRecurrent 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.Hum Mutat2019-12-19T00:00:002019Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.CASANDRAHELMCASANDRA HELM0.000000000000000.000000000000006405HELM, CASANDRAAssistant ProfessorAuthorship 9791231032165008Davids 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 MCVMolecular genetics and metabolismHomozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Mol Genet Metab. 2020 05; 130(1):49-57.Mol Genet Metab2020-02-10T00:00:002020Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.Authorship 98374719http://flypush.imgen.bcm.tmc.eduBellen Lab WebsiteAuthorship 1009257533473204Smith HS, Franciskovich R, Lewis AM, Gerard A, Littlejohn RO, Nugent K, Rodriguez J, Streff HGenetics in medicine : official journal of the American College of Medical GeneticsOutcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics. Genet Med. 2021 05; 23(5):950-955.Genet Med2021-01-20T00:00:002021Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics.true1Assistant ProfessorAssistant Professor2Assistant ProfessorAssistant Professortrue1Distinguished Service ProfessorDistinguished Service Professortrue1Distinguished Service ProfessorDistinguished Service Professor333 NORTH SANTA ROSA ST.San Antonio, 78207TXSCOTTMCLEANSCOTT MCLEAN0.000000000000000.000000000000007004MCLEAN, SCOTTProfessor0.5738740.00713636146research areas0.4909650.035999248coauthor of23.5232.0114660similar to1117selected publicationstrue1Associate ProfessorAssociate ProfessorAuthorship 105629718Authorship 10624325Authorship 10606611736399134Cali 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 RGenetics in medicine : official journal of the American College of Medical GeneticsBiallelic 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.Genet Med2022-11-18T00:00:002022Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.36547467Streff H, Uhles CL, Fisher H, Franciskovich R, Littlejohn RO, Gerard A, Hudnall J, Smith HSGenetics in medicine : official journal of the American College of Medical GeneticsAccess to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas. Genet Med. 2023 03; 25(3):100350.Genet Med2022-12-06T00:00:002022Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas.36150828Bi 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 SWJournal of medical geneticsRecurring 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.J Med Genet2022-09-23T00:00:002022Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.Authorship 10633542136724785Serey-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 SEAmerican journal of human geneticsBi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 03 02; 110(3):499-515.Am J Hum Genet2023-01-31T00:00:002023Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.true1Assistant ProfessorAssistant Professortrue1Clinical Assistant ProfessorClinical Assistant Professortrue1ProfessorProfessorAuthorship 1090201738431799Vuocolo 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 MGenetics in medicine : official journal of the American College of Medical GeneticsImproving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 Feb 28; 101102.Genet Med2024-02-28T00:00:002024Improving access to exome sequencing in a medically underserved population through the Texome Project.