Kiely James • UCSD Profiles (original) (raw)
- Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia. Life Sci Alliance. 2024 08; 7(8). Jones D, Hartung J, Lasalle E, Borquez A, Murillo V, Guidugli L, James KN, Kingsmore SF, Coufal NG. PMID: 38777371; PMCID: PMC11111969.
View in: PubMed Mentions: 2 Fields:
Translation:Humans - Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science. 2024 05 03; 384(6695):584-590. Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA, Spina Bifida Sequencing Consortium‡, Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. PMID: 38696583; PMCID: PMC11849314.
View in: PubMed Mentions: 3 Fields:
Translation:HumansAnimalsCells - Functional sensory circuits built from neurons of two species. Cell. 2024 Apr 25; 187(9):2143-2157.e15. Throesch BT, Bin Imtiaz MK, Muñoz-Castañeda R, Sakurai M, Hartzell AL, James KN, Rodriguez AR, Martin G, Lippi G, Kupriyanov S, Wu Z, Osten P, Izpisua Belmonte JC, Wu J, Baldwin KK. PMID: 38670072; PMCID: PMC11293795.
View in: PubMed Mentions: 4 Fields:
Translation:AnimalsCells - Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations. Genet Med. 2024 01; 26(1):101006. James KN, Chowdhury S, Ding Y, Batalov S, Watkins K, Kwon YH, Van Der Kraan L, Ellsworth K, Kingsmore SF, Guidugli L. PMID: 37869996; PMCID: PMC11542619.
View in: PubMed Mentions: 1 Fields:
Translation:Humans - Artificial Intelligence in the Genetic Diagnosis of Rare Disease. Clin Lab Med. 2023 03; 43(1):127-143. James KN, Phadke S, Wong TC, Chowdhury S. PMID: 36764805.
View in: PubMed Mentions: 2 Fields:
Translation:Humans - Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development. Nat Genet. 2023 02; 55(2):209-220. Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Gleeson JG. PMID: 36635388; PMCID: PMC9961399.
View in: PubMed Mentions: 51 Fields:
Translation:Humans - Neonatal familial hemophagocytic lymphohistiocytosis diagnosed with ultrarapid whole-genome sequencing. Pediatr Blood Cancer. 2023 01; 70(1):e29871. Greenmyer JR, Thompson WS, Mavis S, Hassan S, Weckwerth J, Hobbs C, James K, Nahas S, Galardy P, Collura C. PMID: 35796407.
View in: PubMed Mentions: Fields:
Translation:Humans - Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Med. 2021 10 14; 13(1):153. De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, Boone B, Levy SE, Õunap K, Pajusalu S, Huentelman M, Ramsey K, Naymik M, Narayanan V, Veeraraghavan N, Billings P, Reese MG, Yandell M, Kingsmore SF. PMID: 34645491; PMCID: PMC8515723.
View in: PubMed Mentions: 54 Fields:
Translation:Humans - Developmental and temporal characteristics of clonal sperm mosaicism. Cell. 2021 09 02; 184(18):4772-4783.e15. Yang X, Breuss MW, Xu X, Antaki D, James KN, Stanley V, Ball LL, George RD, Wirth SA, Cao B, Nguyen A, McEvoy-Venneri J, Chai G, Nahas S, Van Der Kraan L, Ding Y, Sebat J, Gleeson JG. PMID: 34388390; PMCID: PMC8496133.
View in: PubMed Mentions: 32 Fields:
Translation:HumansCells - Expanding the genotypic spectrum of ACTG2-related visceral myopathy. Cold Spring Harb Mol Case Stud. 2021 06; 7(3). James KN, Lau M, Shayan K, Lenberg J, Mardach R, Ignacio R, Halbach J, Choi L, Kumar S, Ellsworth KA. PMID: 33883208; PMCID: PMC8208046.
View in: PubMed Mentions: 4 Fields:
Translation:Humans - Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report. Am J Med Genet A. 2021 07; 185(7):2126-2130. Chandrasekar I, Tourney A, Loo K, Carmichael J, James K, Ellsworth KA, Dimmock D, Joseph M. PMID: 33749980.
View in: PubMed Mentions: 10 Fields:
Translation:Humans - Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis. Cold Spring Harb Mol Case Stud. 2020 12; 6(6). Savage L, Adams SD, James K, Chowdhury S, Rajasekaran S, Prokop JW, Bupp C. PMID: 33115767; PMCID: PMC7784488.
View in: PubMed Mentions: 3 Fields:
Translation:HumansCells - An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm. Am J Hum Genet. 2020 11 05; 107(5):942-952. Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Wigby K, Farnaes L, Bloss CS, Kingsmore SF, RCIGM Investigators. PMID: 33157007; PMCID: PMC7675004.
View in: PubMed Mentions: 91 Fields:
Translation:Humans - Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses. NPJ Genom Med. 2020; 5:33. James KN, Clark MM, Camp B, Kint C, Schols P, Batalov S, Briggs B, Veeraraghavan N, Chowdhury S, Kingsmore SF. PMID: 32821428; PMCID: PMC7419288.
View in: PubMed Mentions: 33 - Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians. Orphanet J Rare Dis. 2020 07 22; 15(1):191. Segal MM, George R, Waltman P, El-Hattab AW, James KN, Stanley V, Gleeson J. PMID: 32698834; PMCID: PMC7374885.
View in: PubMed Mentions: 4 Fields:
Translation:Humans - Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 04 02; 106(4):484-495. Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM. PMID: 32220290; PMCID: PMC7118585.
View in: PubMed Mentions: 27 Fields:
Translation:Humans - Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genet Med. 2020 06; 22(6):1040-1050. Coulter ME, Musaev D, DeGennaro EM, Zhang X, Henke K, James KN, Smith RS, Hill RS, Partlow JN, Kamumbu AS, Hatem N, Barkovich AJ, Aziza J, Chassaing N, Zaki MS, Sultan T, Burglen L, Rajab A, Al-Gazali L, Mochida GH, Harris MP, Gleeson JG, Walsh CA. PMID: 32103185; PMCID: PMC7272323.
View in: PubMed Mentions: 16 Fields:
Translation:HumansAnimals - Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system. Cold Spring Harb Mol Case Stud. 2020 02; 6(1). Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D. PMID: 32014857; PMCID: PMC6996516.
View in: PubMed Mentions: 12 Fields:
Translation:Humans - mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly. Epilepsia Open. 2020 Mar; 5(1):97-106. Garcia CAB, Carvalho SCS, Yang X, Ball LL, George RD, James KN, Stanley V, Breuss MW, Thomé U, Santos MV, Saggioro FP, Neder Serafini L, Silva WA, Gleeson JG, Machado HR. PMID: 32140648; PMCID: PMC7049797.
View in: PubMed Mentions: 14 Fields: - Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers. Mol Genet Genomic Med. 2020 02; 8(2):e1049. Verdonschot JAJ, Robinson EL, James KN, Mohamed MW, Claes GRF, Casas K, Vanhoutte EK, Hazebroek MR, Kringlen G, Pasierb MM, van den Wijngaard A, Glatz JFC, Heymans SRB, Krapels IPC, Nahas S, Brunner HG, Szklarczyk R. PMID: 31880413; PMCID: PMC7005607.
View in: PubMed Mentions: 10 Fields:
Translation:Humans - Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nat Med. 2020 01; 26(1):143-150. Breuss MW, Antaki D, George RD, Kleiber M, James KN, Ball LL, Hong O, Mitra I, Yang X, Wirth SA, Gu J, Garcia CAB, Gujral M, Brandler WM, Musaev D, Nguyen A, McEvoy-Venneri J, Knox R, Sticca E, Botello MCC, Uribe Fenner J, Pérez MC, Arranz M, Moffitt AB, Wang Z, Hervás A, Devinsky O, Gymrek M, Sebat J, Gleeson JG. PMID: 31873310; PMCID: PMC7032648.
View in: PubMed Mentions: 55 Fields:
Translation:HumansCells - Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet. 2019 10 03; 105(4):844-853. Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG. PMID: 31585108; PMCID: PMC6817548.
View in: PubMed Mentions: 9 Fields:
Translation:Humans - A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. Am J Hum Genet. 2019 10 03; 105(4):719-733. Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, Bainbridge MN, Carroll J, Caylor SA, Clarke C, Ding Y, Ellsworth K, Farnaes L, Hildreth A, Hobbs C, James K, Kint CI, Lenberg J, Nahas S, Prince L, Reyes I, Salz L, Sanford E, Schols P, Sweeney N, Tokita M, Veeraraghavan N, Watkins K, Wigby K, Wigby K, Wong T, Chowdhury S, Wright MS, Dimmock D, RCIGM Investigators. PMID: 31564432; PMCID: PMC6817534.
View in: PubMed Mentions: 190 Fields:
Translation:Humans - Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun. 2019 02 12; 10(1):707. Friedman J, Smith DE, Issa MY, Stanley V, Wang R, Mendes MI, Wright MS, Wigby K, Wigby K, Hildreth A, Crawford JR, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, James KN, Musaev D, Accogli A, Guerrero K, Tran LT, Omar TEI, Ben-Omran T, Dimmock D, Kingsmore SF, Salomons GS, Zaki MS, Bernard G, Gleeson JG. PMID: 30755602; PMCID: PMC6372641.
View in: PubMed Mentions: 31 Fields:
Translation:HumansCells - Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest. 2019 03 01; 129(3):1240-1256. Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. PMID: 30620337; PMCID: PMC6391109.
View in: PubMed Mentions: 46 Fields:
Translation:HumansAnimalsCells - Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage. Cold Spring Harb Mol Case Stud. 2018 12; 4(6). Briggs B, James KN, Chowdhury S, Thornburg C, Farnaes L, Dimmock D, Kingsmore SF, RCIGM Investigators. PMID: 30404926; PMCID: PMC6318776.
View in: PubMed Mentions: 9 Fields:
Translation:Humans - MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet. 2019 05; 56(5):332-339. Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çaglayan AO, Najafi M, Stanley V, Boustany RM, Yesil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. PMID: 30487245; PMCID: PMC6581149.
View in: PubMed Mentions: 18 Fields:
Translation:HumansCells - Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum Genet. 2018 Sep; 137(9):753-768. Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D. PMID: 30167850; PMCID: PMC6671679.
View in: PubMed Mentions: 30 Fields:
Translation:Humans - Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Am J Hum Genet. 2018 08 02; 103(2):296-304. Breuss MW, Nguyen A, Song Q, Nguyen T, Stanley V, James KN, Musaev D, Chai G, Wirth SA, Anzenberg P, George RD, Johansen A, Ali S, Zia-Ur-Rehman M, Sultan T, Zaki MS, Gleeson JG. PMID: 30032983; PMCID: PMC6080764.
View in: PubMed Mentions: 20 Fields:
Translation:HumansAnimalsCells - Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 08; 50(8):1093-1101. Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. PMID: 30013181; PMCID: PMC6072555.
View in: PubMed Mentions: 48 Fields:
Translation:HumansAnimalsCells - Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 03; 26(3):330-339. Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE. PMID: 29343805; PMCID: PMC5839044.
View in: PubMed Mentions: 44 Fields:
Translation:HumansCells - 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. Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau 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 MA. PMID: 28343629; PMCID: PMC5384096.
View in: PubMed Mentions: 41 Fields:
Translation:HumansAnimals - Expression of transcription factors divides retinal ganglion cells into distinct classes. J Comp Neurol. 2019 01 01; 527(1):225-235. Sweeney NT, James KN, Nistorica A, Lorig-Roach RM, Feldheim DA. PMID: 28078709; PMCID: PMC9444162.
View in: PubMed Mentions: 23 Fields:
Translation:AnimalsCells - Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Hum Mol Genet. 2017 01 15; 26(2):258-269. Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG. PMID: 28013290; PMCID: PMC6075555.
View in: PubMed Mentions: 8 Fields:
Translation:HumansAnimalsCells - Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. Am J Hum Genet. 2016 Jul 07; 99(1):228-35. Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. PMID: 27392077; PMCID: PMC5005448.
View in: PubMed Mentions: 30 Fields:
Translation:HumansCells - Mechanism for Selective Synaptic Wiring of Rod Photoreceptors into the Retinal Circuitry and Its Role in Vision. Neuron. 2015 Sep 23; 87(6):1248-1260. Cao Y, Sarria I, Fehlhaber KE, Kamasawa N, Orlandi C, James KN, Hazen JL, Gardner MR, Farzan M, Lee A, Baker S, Baldwin K, Sampath AP, Martemyanov KA. PMID: 26402607; PMCID: PMC4583715.
View in: PubMed Mentions: 82 Fields:
Translation:HumansAnimalsCells - Ephrin-As are required for the topographic mapping but not laminar choice of physiologically distinct RGC types. Dev Neurobiol. 2015 Jun; 75(6):584-93. Sweeney NT, James KN, Sales EC, Feldheim DA. PMID: 25649160; PMCID: PMC4437846.
View in: PubMed Mentions: 11 Fields:
Translation:AnimalsCells
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