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Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1455467
By:
- Cissé, Lassana;
- Bamba, Salia;
- Diallo, Seybou H.;
- Ji, Weizhen;
- Dembélé, Mohamed Emile;
- Yalcouyé, Abdoulaye;
- Coulibaly, Toumany;
- Traoré, Ibrahima;
- Jeffries, Lauren;
- Diarra, Salimata;
- Maiga, Alassane Dit Baneye;
- Diallo, Salimata;
- Nimaga, Karamoko;
- Touré, Amadou;
- Traoré, Oumou;
- Kotioumbé, Mahamadou;
- Mis, Emily Kathryn;
- Cissé, Cheick Abdel Kader;
- Guinto, Cheick Oumar;
- Fischbeck, Kenneth H.
Publication type:
Article
Hypomethylation of pericentromeric DNA in breast adenocarcinomas.
Published in:
International Journal of Cancer, 1998, v. 77, n. 6, p. 833, doi. 10.1002/(SICI)1097-0215(19980911)77:6<833::AID-IJC6>3.0.CO;2-V
By:
- Narayan, Ajita;
- Ji, Weizhen;
- Zhang, Xian-Yang;
- Marrogi, Aizen;
- Graff, Jeremy R.;
- Baylin, Stephen B.;
- Ehrlich, Melanie
Publication type:
Article
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1455467
By:
- Cissé, Lassana;
- Bamba, Salia;
- Diallo, Seybou H.;
- Weizhen Ji;
- Dembélé, Mohamed Emile;
- Yalcouyé, Abdoulaye;
- Coulibaly, Toumany;
- Traoré, Ibrahima;
- Jeffries, Lauren;
- Diarra, Salimata;
- Maiga, Alassane Dit Baneye;
- Diallo, Salimata;
- Nimaga, Karamoko;
- Touré, Amadou;
- Traoré, Oumou;
- Kotioumbé, Mahamadou;
- Mis, Emily Kathryn;
- Cissé, Cheick Abdel Kader;
- Guinto, Cheick Oumar;
- Fischbeck, Kenneth H.
Publication type:
Article
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1455467
By:
- Cissé, Lassana;
- Bamba, Salia;
- Diallo, Seybou H.;
- Weizhen Ji;
- Dembélé, Mohamed Emile;
- Yalcouyé, Abdoulaye;
- Coulibaly, Toumany;
- Traoré, Ibrahima;
- Jeffries, Lauren;
- Diarra, Salimata;
- Baneye Maiga, Alassane Dit;
- Diallo, Salimata;
- Nimaga, Karamoko;
- Touré, Amadou;
- Traoré, Oumou;
- Kotioumbé, Mahamadou;
- Mis, Emily Kathryn;
- Kader Cissé, Cheick Abdel;
- Guinto, Cheick Oumar;
- Fischbeck, Kenneth H.
Publication type:
Article
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 760, doi. 10.1002/ajmg.a.63071
By:
- Alkhunaizi, Ebba;
- Martin, Nicole;
- Jelin, Angie C.;
- Rosner, Mara;
- Bailey, Diana J.;
- Steiner, Laurie A.;
- Lakhani, Saquib;
- Ji, Weizhen;
- Katzman, Philip J.;
- Forster, Katherine R.;
- Jarinova, Olga;
- Shannon, Patrick;
- Chitayat, David
Publication type:
Article
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2869, doi. 10.1002/ajmg.a.62918
By:
- Al‐Ali, Samir;
- Jeffries, Lauren;
- Faustino, E. Vincent S.;
- Ji, Weizhen;
- Mis, Emily;
- Konstantino, Monica;
- Zerillo, Cynthia;
- Jiang, Yong‐hui;
- Spencer‐Manzon, Michele;
- Bale, Allen;
- Zhang, Hui;
- McGlynn, Julie;
- McGrath, James M.;
- Tremblay, Thierry;
- Brodsky, Nina N.;
- Lucas, Carrie L.;
- Pierce, Richard;
- Deniz, Engin;
- Khokha, Mustafa K.;
- Lakhani, Saquib A.
Publication type:
Article
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 357, doi. 10.1002/ajmg.a.62520
By:
- Werner, Kelly M.;
- Cox, Allison J.;
- Qian, Emily;
- Jain, Preti;
- Ji, Weizhen;
- Tikhonova, Irina;
- Castaldi, Christopher;
- Bilguvar, Kaya;
- Knight, James;
- Ferdinandusse, Sacha;
- Fawaz, Rima;
- Jiang, Yong‐Hui;
- Gallagher, Patrick G.;
- Bizzarro, Matthew;
- Gruen, Jeffrey R.;
- Bale, Allen;
- Zhang, Hui
Publication type:
Article
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1076, doi. 10.1002/ajmg.a.62064
By:
- Mis, Emily K.;
- Sega, Annalisa G.;
- Signer, Rebecca H.;
- Cartwright, Tracy;
- Weizhen Ji;
- Martinez-Agosto, Julian A.;
- Nelson, Stanley F.;
- Palmer, Christina G. S.;
- Hane Lee;
- Mitzelfelt, Thomas;
- Konstantino, Monica;
- Jeffries, Lauren;
- Khokha, Mustafa K.;
- Marco, Elysa;
- Martin, Martin G.;
- Lakhani, Saquib A.
Publication type:
Article
Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3023, doi. 10.1002/ajmg.a.61890
By:
- Chai, Hongyan;
- Ji, Weizhen;
- Wen, Jiadi;
- DiAdamo, Autumn;
- Grommisch, Brittany;
- Hu, Qiping;
- Szekely, Anna M.;
- Li, Peining
Publication type:
Article
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2291, doi. 10.1002/ajmg.a.61783
By:
- Mis, Emily K.;
- Al‐Ali, Samir;
- Ji, Weizhen;
- Spencer‐Manzon, Michele;
- Konstantino, Monica;
- Khokha, Mustafa K.;
- Jeffries, Lauren;
- Lakhani, Saquib A.
Publication type:
Article
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2049, doi. 10.1002/ajmg.a.61729
By:
- Amabile, Sonia;
- Jeffries, Lauren;
- McGrath, James M.;
- Ji, Weizhen;
- Spencer‐Manzon, Michele;
- Zhang, Hui;
- Lakhani, Saquib A.
Publication type:
Article
A novel <italic>SAMD9</italic> mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 415, doi. 10.1002/ajmg.a.38557
By:
- Jeffries, Lauren;
- Shima, Hirohito;
- Ji, Weizhen;
- Panisello‐Manterola, David;
- McGrath, James;
- Bird, Lynne M.;
- Konstantino, Monica;
- Narumi, Satoshi;
- Lakhani, Saquib
Publication type:
Article
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Published in:
Nature Genetics, 2015, v. 47, n. 5, p. 512, doi. 10.1038/ng.3278
By:
- Stuart, Bridget D;
- Garcia, Christine Kim;
- Choi, Jungmin;
- Zaidi, Samir;
- Ji, Weizhen;
- Xing, Chao;
- Choi, Mihwa;
- Holohan, Brody;
- Shay, Jerry W;
- Chen, Rui;
- Dharwadkar, Pooja;
- Torres, Fernando;
- Girod, Carlos E;
- Weissler, Jonathan;
- Fitzgerald, John;
- Kershaw, Corey;
- Klesney-Tait, Julia;
- Mageto, Yolanda;
- Bilguvar, Kaya;
- Mane, Shrikant
Publication type:
Article
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Published in:
Nature Genetics, 2013, v. 45, n. 5, p. 531, doi. 10.1038/ng.2590
By:
- Lemaire, Mathieu;
- Frémeaux-Bacchi, Véronique;
- Schaefer, Franz;
- Choi, Murim;
- Tang, Wai Ho;
- Le Quintrec, Moglie;
- Fakhouri, Fadi;
- Taque, Sophie;
- Nobili, François;
- Martinez, Frank;
- Ji, Weizhen;
- Overton, John D;
- Mane, Shrikant M;
- Nürnberg, Gudrun;
- Altmüller, Janine;
- Thiele, Holger;
- Morin, Denis;
- Deschenes, Georges;
- Baudouin, Véronique;
- Llanas, Brigitte
Publication type:
Article
Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
Published in:
Nature Genetics, 2008, v. 40, n. 5, p. 592, doi. 10.1038/ng.118
By:
- Weizhen Ji;
- Jia Nee Foo;
- O'Roak, Brian J.;
- Hongyu Zhao;
- Larson, Martin G.;
- Simon, David B.;
- Newton-Cheh, Christopher;
- State, Matthew W.;
- Levy, Daniel;
- Lifton, Richard P.
Publication type:
Article
Functional testing for variant prioritization in a family with long QT syndrome.
Published in:
Molecular Genetics & Genomics, 2021, v. 296, n. 4, p. 823, doi. 10.1007/s00438-021-01780-3
By:
- Najari Beidokhti, Maliheh;
- Bertalovitz, Alexander C.;
- Ji, Weizhen;
- McCormack, Jorge;
- Jeffries, Lauren;
- Sempou, Emily;
- Khokha, Mustafa K.;
- McDonald, Thomas V.;
- Lakhani, Saquib A.
Publication type:
Article
Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-64921-9
By:
- Azab, Bilal;
- Aburizeg, Dunia;
- Shaaban, Sherin T.;
- Ji, Weizhen;
- Mustafa, Lina;
- Isbeih, Nooredeen Jamal;
- Al-Akily, Amal Saleh;
- Mohammad, Hashim;
- Jeffries, Lauren;
- Khokha, Mustafa;
- Lakhani, Saquib A.;
- Al-Ammouri, Iyad
Publication type:
Article
De novo damaging variants associated with congenital heart diseases contribute to the connectome.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63928-2
By:
- Ji, Weizhen;
- Ferdman, Dina;
- Copel, Joshua;
- Scheinost, Dustin;
- Shabanova, Veronika;
- Brueckner, Martina;
- Khokha, Mustafa K.;
- Ment, Laura R.
Publication type:
Article
TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects.
Published in:
Molecular Medicine Reports, 2022, v. 25, n. 6, p. N.PAG
By:
- Azab, Bilal;
- Aburizeg, Dunia;
- Ji, Weizhen;
- Jeffries, Lauren;
- Isbeih, Nooredeen Jamal;
- Al-Akily, Amal Saleh;
- Mohammad, Hashim;
- Osba, Yousef Abu;
- Shahin, Mohammad A.;
- Dardas, Zain;
- Hatmal, Ma'mon M.;
- Al-Ammouri, Iyad;
- Lakhani, Saquib
Publication type:
Article
Auxiliary Differential Diagnosis of Mammograms by Computer: Multiple Stepwise Regression Analysis.
Published in:
Japanese Journal of Clinical Oncology, 1981, v. 11, n. 2, p. 307
By:
- KAIYE, XU;
- BINGZHANG, SHI;
- QINGCAI, ZHANG;
- YANGDE, LIAN;
- DACHANG, ZHU;
- JIANMING, WANG;
- YIHAO, GU;
- WEIZHEN, JI
Publication type:
Article
Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families.
Published in:
Clinical Genetics, 2024, v. 105, n. 1, p. 109, doi. 10.1111/cge.14430
By:
- Abdullah;
- Hussain, Shabir;
- Ji, Weizhen;
- Khan, Hammal;
- Mis, Emily K.;
- Mushtaq, Rabiha;
- Chodhary, Mirub;
- Raza, Muhammad Hassan;
- Jan, Abid;
- Ullah, Imran;
- Khokha, Mustafa K.;
- Lakhani, Saquib A.;
- Ahmad, Wasim
Publication type:
Article
Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2).
Published in:
2021
By:
- Brooks, Joel P.;
- Rice, Andrew J.;
- Ji, Weizhen;
- Lanahan, Stephen M.;
- Konstantino, Monica;
- Dara, Jasmeen;
- Hershfield, Michael S.;
- Cruickshank, Amy;
- Dokmeci, Elif;
- Lakhani, Saquib;
- Lucas, Carrie L.
Publication type:
Letter
Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice.
Published in:
Nature, 2003, v. 425, n. 6959, p. 721, doi. 10.1038/nature02052
By:
- Jone, Julie M.;
- Datta, Pinaki;
- Srinivasula, Srinivasa M.;
- Ji, Weizhen;
- Gupta, Sanjeev;
- ZhiJia Zhang;
- Davies, Erika;
- Hajnóczky, György;
- Saunders, Thomas L.;
- Van Keuren, Margaret L.;
- Fernandes-Alnemri, Teresa;
- Meisler, Miriam H.;
- Alnemri, Emad S.
Publication type:
Article
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 11, p. 1900, doi. 10.1093/hmg/ddaa050
By:
- Alharatani, Reham;
- Ververi, Athina;
- Beleza-Meireles, Ana;
- Ji, Weizhen;
- Mis, Emily;
- Patterson, Quinten T;
- Griffin, John N;
- Bhujel, Nabina;
- Chang, Caitlin A;
- Dixit, Abhijit;
- Konstantino, Monica;
- Healy, Christopher;
- Hannan, Sumayyah;
- Neo, Natsuko;
- Cash, Alex;
- Li, Dong;
- Bhoj, Elizabeth;
- Zackai, Elaine H;
- Cleaver, Ruth;
- Baralle, Diana
Publication type:
Article
Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma.
Published in:
BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00998-9
By:
- Peng, Gang;
- Chai, Hongyan;
- Ji, Weizhen;
- Lu, Yufei;
- Wu, Shengming;
- Zhao, Hongyu;
- Li, Peining;
- Hu, Qiping
Publication type:
Article
Reporter Gene Expression Upon Stable Transfection When Only a TATA Box or a TATA Box Plus Sp1 Sites Are Present 5′ to the Gene.
Published in:
DNA & Cell Biology, 1995, v. 14, n. 8, p. 709, doi. 10.1089/dna.1995.14.709
By:
- WARSHAMANA, G. SAKUNTALA;
- QU, GUANG-ZHI;
- ZHANG, XIAN-YANG;
- JI, WEIZHEN;
- EHRLICH, MELANIE
Publication type:
Article
DQX1, an RNA-dependent ATPase homolog with a novel DEAQ box: expression pattern and genomic sequence comparison of the human and mouse genes.
Published in:
Mammalian Genome, 2001, v. 12, n. 6, p. 456, doi. 10.1007/s003350020032
By:
- Ji, Weizhen;
- Chen, Feng;
- Do, Trang;
- Do, Anh;
- Roe, Bruce A.;
- Meisler, Miriam H.
Publication type:
Article
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.
Published in:
2019
By:
- Sandokji, Ibrahim;
- Marquez, Jonathan;
- Ji, Weizhen;
- Zerillo, Cynthia A.;
- Konstantino, Monica;
- Lakhani, Saquib A.;
- Khokha, Mustafa K.;
- Warejko, Jillian K.
Publication type:
journal article
Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae.
Published in:
PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000365
By:
- Lowe, Jennifer K.;
- Maller, Julian B.;
- Pe'er, Itsik;
- Neale, Benjamin M.;
- Salit, Jacqueline;
- Kenny, Eimear E.;
- Shea, Jessica L.;
- Burkhardt, Ralph;
- Smith, J. Gustav;
- Weizhen Ji;
- Noel, Martha;
- Jia Nee Foo;
- Blundell, Maude L.;
- Skilling, Vita;
- Garcia, Laura;
- Sullivan, Marcia L.;
- Lee, Heather E.;
- Labek, Anna;
- Ferdowsian, Hope;
- Auerbach, Steven B.
Publication type:
Article
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.
Published in:
2020
By:
- AbuBakr, Fatima;
- Jeffries, Lauren;
- Ji, Weizhen;
- McGrath, James M.;
- Lakhani, Saquib A.
Publication type:
Case Study
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 430, doi. 10.3390/ijms25010430
By:
- O'Brien, Matthew P.;
- Pryzhkova, Marina V.;
- Lake, Evelyn M. R.;
- Mandino, Francesca;
- Shen, Xilin;
- Karnik, Ruchika;
- Atkins, Alisa;
- Xu, Michelle J.;
- Ji, Weizhen;
- Konstantino, Monica;
- Brueckner, Martina;
- Ment, Laura R.;
- Khokha, Mustafa K.;
- Jordan, Philip W.
Publication type:
Article

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