Kiely N. James

Howard Hughes Medical Institute

H指数:23

被引数:2,110

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Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia

LIFE SCIENCE ALLIANCE

IF2.9

2024-05-220

OAAI

Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations

基因组测序检测广泛的临床相关拷贝数变异和其他基因组改变

GENETICS IN MEDICINE

IF6.2

2024-01-010

PRE

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

NATURE GENETICS

IF31.8

2023-01-1246

Chung, Changuk; Yang, Xiaoxu; Bae, Taejeong; Vong, Keng Ioi; Mittal, Swapnil H.; Donkels, Catharina; Westley Phillips, H.; Li, Zhen; Marsh, Ashley P. L.; Breuss, Martin; Ball, Laurel; Garcia, Camila Araujo Bernardino; George, Renee; Gu, Jing; Xu, Mingchu; Barrows, Chelsea; James, Kiely; Stanley, Valentina; Nidhiry, Anna; Khoury, Sami; Howe, Gabrielle; Riley, Emily; Xu, Xin; Copeland, Brett; Wang, Yifan G.; Kim, Se Hoon L.; Kang, Hoon-Chul W.; Schulze-Bonhage, Andreas; Haas, Carola; Urbach, Horst; Prinz, Marco; Limbrick, David A.; Gurnett, Christina; Smyth, Matthew C.; Sattar, Shifteh M.; Nespeca, Mark B.; Gonda, David V.; Imai, Katsumi Y.; Takahashi, Yukitoshi E.; Chen, Hsin-Hung B.; Tsai, Jin-Wu; Conti, Valerio; Guerrini, Renzo; Devinsky, Orrin; Silva, Wilson; Machado, Helio M.; Mathern, Gary; Abyzov, Alexej; Baldassari, Sara; Baulac, Stephanie; Gleeson, Joseph G.

Mosaic 2q37 deletion detected in a neonate with IUGR and brain malformations

GENETICS IN MEDICINE

IF6.2

2022-03-010

Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2020-07-226

OAAI

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

GENETICS IN MEDICINE

IF6.2

2020-06-0118

OAAI

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-04-0128

OAAI

Thi Tuyet Mai Nguyen; Murakami, Yoshiko; Mobilio, Sabrina; Niceta, Marcello; Zampino, Giuseppe; Philippe, Christophe; Moutton, Sebastien; Zaki, Maha S.; James, Kiely N.; Musaev, Damir; Mu, Weiyi; Baranano, Kristin; Nance, Jessica R.; Rosenfeld, Jill A.; Braverman, Nancy; Ciolfi, Andrea; Millan, Francisca; Person, Richard E.; Bruel, Ange-Line; Thauvin-Robinet, Christel; Ververi, Athina; DeVile, Catherine; Male, Alison; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Maqbool, Shazia; Rahman, Fatima; Baratang, Nissan, V; Rousseau, Justine; St-Denis, Anik; Elrick, Matthew J.; Anselm, Irina; Rodan, Lance H.; Tartaglia, Marco; Gleeson, Joseph; Kinoshita, Taroh; Campeau, Philippe M.

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

NATURE MEDICINE

IF50

2019-12-2374

OAAI

Breuss, Martin W.; Antaki, Danny; George, Renee D.; Kleiber, Morgan; James, Kiely N.; Ball, Laurel L.; Hong, Oanh; Mitra, Ileena; Yang, Xiaoxu; Wirth, Sara A.; Gu, Jing; Garcia, Camila A. B.; Gujral, Madhusudan; Brandler, William M.; Musaev, Damir; Nguyen, An; McEvoy-Venneri, Jennifer; Knox, Renatta; Sticca, Evan; Botello, Martha Cristina Cancino; Uribe Fenner, Javiera; Perez, Maria Carcel; Arranz, Maria; Moffitt, Andrea B.; Wang, Zihua; Hervas, Amaia; Devinsky, Orrin; Gymrek, Melissa; Sebat, Jonathan; Gleeson, Joseph G.

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in III Infants

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-10-01253

OAAI

Kingsmore, Stephen F.; Cakici, Julie A.; Clark, Michelle M.; Gaughran, Mary; Feddock, Michele; Batalov, Sergey; Bainbridge, Matthew N.; Carroll, Jeanne; Caylor, Sara A.; Clarke, Christina; Ding, Yan; Ellsworth, Katarzyna; Farnaes, Lauge; Hildreth, Amber; Hobbs, Charlotte; James, Kiely; Kint, Cyrielle I.; Lenberg, Jerica; Nahas, Shareef; Prince, Lance; Reyes, Iris; Salz, Lisa; Sanford, Erica; Schols, Peter; Sweeney, Nathaly; Tokita, Mari; Veeraraghavan, Narayanan; Watkins, Kelly; Wigby, Kristen; Wong, Terence; Chowdhury, Shimul; Wright, Meredith S.; Dimmock, David; Bezares, Zaira; Bloss, Cinnamon; Braun, Joshua J. A.; Diaz, Carlos; Mashburn, Dana; Tamang, Dorjee; Orendain, Daniken; Friedman, Jenni; Gleeson, Joe; Barea, Jaime; Chiang, George; Cohenmeyer, Casey; Coufal, Nicole G.; Evans, Marva; Honold, Jose; Hovey, Raymond L.; Kimball, Amy; Lane, Brian; Le, Crystal; Le, Jennie; Leibel, Sandra; Moyer, Laurel; Mulrooney, Patrick; Oh, Daeheon; Ordonez, Paulina; Oriol, Albert; Ortiz-Arechiga, Maria; Puckett, Laura; Speziale, Mark; Suttner, Denise; Van der Kraan, Lucitia; Knight, Gail; Sauer, Charles; Song, Richard; White, Sarah; Wise, Audra; Yamada, Catherine

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-10-0115

OAAI

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

NATURE COMMUNICATIONS

IF15.7

2019-02-1235

OAAI

Friedman, Jennifer; Smith, Desiree E.; Issa, Mahmoud Y.; Stanley, Valentina; Wang, Rengang; Mendes, Marisa I.; Wright, Meredith S.; Wigby, Kristen; Hildreth, Amber; Crawford, John R.; Koehler, Alanna E.; Chowdhury, Shimul; Nahas, Shareef; Zhai, Liting; Xu, Zhiwen; Lo, Wing-Sze; James, Kiely N.; Musaev, Damir; Accogli, Andrea; Guerrero, Kether; Tran, Luan T.; Omar, Tarek E. I.; Ben-Omran, Tawfeg; Dimmock, David; Kingsmore, Stephen F.; Salomons, Gajja S.; Zaki, Maha S.; Bernard, Genevieve; Gleeson, Joseph G.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2019-02-1164

Pant, Devesh C.; Dorboz, Imen; Schluter, Agatha; Fourcade, Stephane; Launay, Nathalie; Joya, Javier; Aguilera-Albesa, Sergio; Eugenia Yoldi, Maria; Casasnovas, Carlos; Willis, Mary J.; Ruiz, Montserrat; Ville, Dorothee; Lesca, Gaetan; Siquier-Pernet, Karine; Desguerre, Isabelle; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Brady, Lauren; Tarnopolsky, Mark; Cornet, Caries; Rubbini, Davide; Terriente, Javier; James, Kiely N.; Musaev, Damir; Zaki, Maha S.; Patterson, Marc C.; Lanpher, Brendan C.; Klee, Eric W.; Pinto E Vairo, Filippo; Wohler, Elizabeth; Sobreira, Nara Lygia de M.; Cohen, Julie S.; Maroofian, Reza; Galehdari, Hamid; Mazaheri, Neda; Shariati, Gholamreza; Colleaux, Laurence; Rodriguez, Diana; Gleeson, Joseph G.; Pujades, Cristina; Fatemi, Ali; Boespflug-Tanguy, Odile; Pujol, Aurora

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

JOURNAL OF MEDICAL GENETICS

IF3.7

2018-11-2833

OAAI

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

HUMAN GENETICS

IF3.6

2018-08-2341

OAAI

Bramswig, Nuria C.; Bertoli-Avella, Aida M.; Albrecht, Beate; Al Aqeel, Aida I.; Alhashem, Amal; Al-Sannaa, Nouriya; Bah, Maissa; Broehl, Katharina; Depienne, Christel; Dorison, Nathalie; Doummar, Diane; Ehmke, Nadja; Elbendary, Hasnaa M.; Gorokhova, Svetlana; Heron, Delphine; Horn, Denise; James, Kiely; Keren, Boris; Kuechler, Alma; Ismail, Samira; Issa, Mahmoud Y.; Marey, Isabelle; Mayer, Michele; McEvoy-Venneri, Jennifer; Megarbane, Andre; Mignot, Cyril; Mohamed, Sarar; Nava, Caroline; Philip, Nicole; Ravix, Cecile; Rolfs, Arndt; Sadek, Abdelrahim Abdrabou; Segebrecht, Lara; Stanley, Valentina; Trautman, Camille; Valence, Stephanie; Villard, Laurent; Wieland, Thomas; Engels, Hartmut; Strom, Tim M.; Zaki, Maha S.; Gleeson, Joseph G.; Luedecke, Hermann-Josef; Bauer, Peter; Wieczorek, Dagmar

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-08-0123

OAAI

Biallelic variants in KIF14 cause intellectual disability with microcephaly

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2018-01-1749

OAAI

Makrythanasis, Periklis; Maroofian, Reza; Stray-Pedersen, Asbjorg; Musaev, Damir; Zaki, Maha S.; Mahmoud, Iman G.; Selim, Laila; Elbadawy, Amera; Jhangiani, Shalini N.; Akdemir, Zeynep H. Coban; Gambin, Tomasz; Sorte, Hanne S.; Heiberg, Arvid; McEvoy-Venneri, Jennifer; James, Kiely N.; Stanley, Valentina; Belandres, Denice; Guipponi, Michel; Santoni, Federico A.; Ahangari, Najmeh; Tara, Fatemeh; Doosti, Mohammad; Iwaszkiewicz, Justyna; Zoete, Vincent; Backe, Paul Hoff; Hamamy, Hanan; Gleeson, Joseph G.; Lupski, James R.; Karimiani, Ehsan Ghayoor; Antonarakis, Stylianos E.

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability

HUMAN MOLECULAR GENETICS

IF3.2

2016-12-2317

OAAI

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly (vol 99, pg 228, 2016)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-09-0113

OAAI

Autosomal- Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

AMERICAN JOURNAL OF HUMAN GENETICS