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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Published in:
Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 112, doi. 10.1093/brain/awz374
By:
- Bergen, Nicole J Van;
- Guo, Yiran;
- Al-Deri, Noraldin;
- Lipatova, Zhanna;
- Stanga, Daniela;
- Zhao, Sarah;
- Murtazina, Rakhilya;
- Gyurkovska, Valeriya;
- Pehlivan, Davut;
- Mitani, Tadahiro;
- Gezdirici, Alper;
- Antony, Jayne;
- Collins, Felicity;
- Willis, Mary J H;
- Akdemir, Zeynep H Coban;
- Liu, Pengfei;
- Punetha, Jaya;
- Hunter, Jill V;
- Jhangiani, Shalini N;
- Fatih, Jawid M
Publication type:
Article
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Published in:
2019
By:
- Van Bergen, Nicole J;
- Guo, Yiran;
- Al-Deri, Noraldin;
- Lipatova, Zhanna;
- Stanga, Daniela;
- Zhao, Sarah;
- Murtazina, Rakhilya;
- Gyurkovska, Valeriya;
- Pehlivan, Davut;
- Mitani, Tadahiro;
- Gezdirici, Alper;
- Antony, Jayne;
- Collins, Felicity;
- Willis, Mary J H;
- Coban Akdemir, Zeynep H;
- Liu, Pengfei;
- Punetha, Jaya;
- Hunter, Jill V;
- Jhangiani, Shalini N;
- Fatih, Jawid M
Publication type:
journal article
Cover.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1158
By:
- Lin, Mao;
- Liu, Zhenlei;
- Liu, Gang;
- Zhao, Sen;
- Li, Chao;
- Chen, Weisheng;
- Coban Akdemir, Zeynep;
- Lin, Jiachen;
- Song, Xiaofei;
- Wang, Shengru;
- Xu, Qiming;
- Zhao, Yanxue;
- Wang, Lianlei;
- Zhang, Yuanqiang;
- Yan, Zihui;
- Liu, Sen;
- Liu, Jiaqi;
- Chen, Yixin;
- Zuo, Yuzhi;
- Yang, Xu
Publication type:
Article
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1023
By:
- Lin, Mao;
- Liu, Zhenlei;
- Liu, Gang;
- Zhao, Sen;
- Li, Chao;
- Chen, Weisheng;
- Coban Akdemir, Zeynep;
- Lin, Jiachen;
- Song, Xiaofei;
- Wang, Shengru;
- Xu, Qiming;
- Zhao, Yanxue;
- Wang, Lianlei;
- Zhang, Yuanqiang;
- Yan, Zihui;
- Liu, Sen;
- Liu, Jiaqi;
- Chen, Yixin;
- Zuo, Yuzhi;
- Yang, Xu
Publication type:
Article
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01123-w
By:
- Du, Haowei;
- Jolly, Angad;
- Grochowski, Christopher M.;
- Yuan, Bo;
- Dawood, Moez;
- Jhangiani, Shalini N.;
- Li, He;
- Muzny, Donna;
- Fatih, Jawid M.;
- Coban-Akdemir, Zeynep;
- Carlin, Mary Esther;
- Scheuerle, Angela E.;
- Witzl, Karin;
- Posey, Jennifer E.;
- Pendleton, Matthew;
- Harrington, Eoghan;
- Juul, Sissel;
- Hastings, P. J.;
- Bi, Weimin;
- Gibbs, Richard A.
Publication type:
Article
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
By:
- Dawood, Moez;
- Akay, Gulsen;
- Mitani, Tadahiro;
- Marafi, Dana;
- Fatih, Jawid M.;
- Gezdirici, Alper;
- Najmabadi, Hossein;
- Kahrizi, Kimia;
- Punetha, Jaya;
- Grochowski, Christopher M.;
- Du, Haowei;
- Jolly, Angad;
- Li, He;
- Coban‐Akdemir, Zeynep;
- Sedlazeck, Fritz J.;
- Hunter, Jill V.;
- Jhangiani, Shalini N.;
- Muzny, Donna;
- Pehlivan, Davut;
- Posey, Jennifer E.
Publication type:
Article
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2360, doi. 10.1002/ajmg.a.62872
By:
- Penon‐Portmann, Monica;
- Eldomery, Mohammad K.;
- Potocki, Lorraine;
- Marafi, Dana;
- Posey, Jennifer E.;
- Coban‐Akdemir, Zeynep;
- Harel, Tamar;
- Grochowski, Christopher M.;
- Loucks, Hailey;
- Devine, Walter Patrick;
- Van Ziffle, Jessica;
- Doherty, Dan;
- Lupski, James R.;
- Shieh, Joseph T.
Publication type:
Article
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2153, doi. 10.1002/ajmg.a.62727
By:
- Taşdelen, Elifcan;
- Calame, Daniel G.;
- Akay, Gulsen;
- Mitani, Tadahiro;
- Fatih, Jawid M.;
- Herman, Isabella;
- Du, Haowei;
- Coban‐Akdemir, Zeynep;
- Marafi, Dana;
- Jhangiani, Shalini N.;
- Posey, Jennifer E.;
- Gibbs, Richard A.;
- Altıparmak, Taylan;
- Kutlay, Nüket Yürür;
- Lupski, James R.;
- Pehlivan, Davut
Publication type:
Article
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565
By:
- Herman, Isabella;
- Jolly, Angad;
- Du, Haowei;
- Dawood, Moez;
- Abdel‐Salam, Ghada M. H.;
- Marafi, Dana;
- Mitani, Tadahiro;
- Calame, Daniel G.;
- Coban‐Akdemir, Zeynep;
- Fatih, Jawid M.;
- Hegazy, Ibrahim;
- Jhangiani, Shalini N.;
- Gibbs, Richard A.;
- Pehlivan, Davut;
- Posey, Jennifer E.;
- Lupski, James R.
Publication type:
Article
Risk of sudden cardiac death in EXOSC5‐related disease.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2532, doi. 10.1002/ajmg.a.62352
By:
- Calame, Daniel G.;
- Herman, Isabella;
- Fatih, Jawid M.;
- Du, Haowei;
- Akay, Gulsen;
- Jhangiani, Shalini N.;
- Coban‐Akdemir, Zeynep;
- Milewicz, Dianna M.;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Marafi, Dana;
- Hunter, Jill V.;
- Fan, Yuxin;
- Lupski, James R.;
- Miyake, Christina Y.
Publication type:
Article
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1288, doi. 10.1002/ajmg.a.62100
By:
- Saad, Ahmed K.;
- Maraf, Dana;
- Mitani, Tadahiro;
- Du, Haowei;
- Rafat, Karima;
- Fatih, Jawid M.;
- Jhangiani, Shalini N.;
- Coban-Akdemir, Zeynep;
- Gibbs, Richard A.;
- Pehlivan, Davut;
- Hunter, Jill V.;
- Posey, Jennifer E.;
- Zaki, Maha S.;
- Lupski, James R.
Publication type:
Article
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 119, doi. 10.1002/ajmg.a.61926
By:
- Dyment, David A.;
- O'Donnell‐Luria, Anne;
- Agrawal, Pankaj B.;
- Coban Akdemir, Zeynep;
- Aleck, Kyrieckos A.;
- Antaki, Danny;
- Al Sharhan, Hind;
- Au, Ping‐Yee B.;
- Aydin, Hatip;
- Beggs, Alan H.;
- Bilguvar, Kaya;
- Boerwinkle, Eric;
- Brand, Harrison;
- Brownstein, Catherine A.;
- Buyske, Steve;
- Chodirker, Bernard;
- Choi, Jungmin;
- Chudley, Albert E.;
- Clericuzio, Carol L.;
- Cox, Gerald F.
Publication type:
Article
Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1387, doi. 10.1002/ajmg.a.61571
By:
- Coban‐Akdemir, Zeynep H.;
- Charng, Wu‐Lin;
- Azamian, Mahshid;
- Paine, Ingrid S.;
- Punetha, Jaya;
- Grochowski, Christopher M.;
- Gambin, Tomasz;
- Valdes, Santiago O.;
- Cannon, Bryan;
- Zapata, Gladys;
- Hernandez, Patricia P.;
- Jhangiani, Shalini;
- Doddapaneni, Harsha;
- Hu, Jianhong;
- Boricha, Fatima;
- Muzny, Donna M.;
- Boerwinkle, Eric;
- Yang, Yaping;
- Gibbs, Richard A.;
- Posey, Jennifer E.
Publication type:
Article
Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome).
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 38, doi. 10.1002/ajmg.a.61380
By:
- Assia Batzir, Nurit;
- Posey, Jennifer E.;
- Song, Xiaofei;
- Akdemir, Zeynep Coban;
- Rosenfeld, Jill A.;
- Brown, Chester W.;
- Chen, Emily;
- Holtrop, Shannon G.;
- Mizerik, Elizabeth;
- Nieto Moreno, Margarita;
- Payne, Katelyn;
- Raas‐Rothschild, Annick;
- Scott, Richard;
- Vernon, Hilary J.;
- Zadeh, Neda;
- Lupski, James R.;
- Sutton, V. Reid
Publication type:
Article
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2056, doi. 10.1002/ajmg.a.61315
By:
- Karaca, Ender;
- Posey, Jennifer E.;
- Bostwick, Bret;
- Liu, Pengfei;
- Gezdirici, Alper;
- Yesil, Gozde;
- Coban Akdemir, Zeynep;
- Bayram, Yavuz;
- Harms, Frederike L.;
- Meinecke, Peter;
- Alawi, Malik;
- Bacino, Carlos A.;
- Sutton, V. Reid;
- Kortüm, Fanny;
- Lupski, James R.
Publication type:
Article
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1897, doi. 10.1002/ajmg.a.40382
By:
- Lumaka, Aimé;
- Race, Valerie;
- Peeters, Hilde;
- Corveleyn, Anniek;
- Coban‐Akdemir, Zeynep;
- Jhangiani, Shalini N.;
- Song, Xiaofei;
- Mubungu, Gerrye;
- Posey, Jennifer;
- Lupski, James R.;
- Vermeesch, Joris R.;
- Lukusa, Prosper;
- Devriendt, Koenraad
Publication type:
Article
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2440, doi. 10.1002/ajmg.a.37822
By:
- Szafranski, Przemyslaw;
- Coban‐Akdemir, Zeynep H.;
- Rupps, Rosemarie;
- Grazioli, Serge;
- Wensley, David;
- Jhangiani, Shalini N.;
- Popek, Edwina;
- Lee, Anna F.;
- Lupski, James R.;
- Boerkoel, Cornelius F.;
- Stankiewicz, Paweł
Publication type:
Article
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2132, doi. 10.1002/ajmg.a.37092
By:
- Bayram, Yavuz;
- Aydin, Hatip;
- Gambin, Tomasz;
- Akdemir, Zeynep Coban;
- Atik, Mehmed M.;
- Karaca, Ender;
- Karaman, Ali;
- Pehlivan, Davut;
- Jhangiani, Shalini N.;
- Gibbs, Richard A.;
- Lupski, James R.
Publication type:
Article
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Published in:
PLoS Genetics, 2017, v. 13, n. 7, p. 1, doi. 10.1371/journal.pgen.1006905
By:
- Luo, Xi;
- Rosenfeld, Jill A.;
- Yamamoto, Shinya;
- Harel, Tamar;
- Zuo, Zhongyuan;
- Hall, Melissa;
- Wierenga, Klaas;
- Pastore, Matthew T.;
- Bartholomew, Dennis;
- Delgado, Mauricio R.;
- Rotenberg, Joshua;
- Lewis, Richard Alan;
- Emrick, Lisa;
- Bacino, Carlos A.;
- Eldomery, Mohammad K.;
- Coban Akdemir, Zeynep;
- Xia, Fan;
- Yang, Yaping;
- Lalani, Seema R.;
- Lotze, Timothy
Publication type:
Article
aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants.
Published in:
Bioinformatics, 2023, v. 39, n. 9, p. 1, doi. 10.1093/bioinformatics/btad556
By:
- Klonowski, Jonathan;
- Liang, Qianqian;
- Coban-Akdemir, Zeynep;
- Lo, Cecilia;
- Kostka, Dennis
Publication type:
Article
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01312-9
By:
- Dardas, Zain;
- Fatih, Jawid M.;
- Jolly, Angad;
- Dawood, Moez;
- Du, Haowei;
- Grochowski, Christopher M.;
- Jones, Edward G.;
- Jhangiani, Shalini N.;
- Wehrens, Xander H. T.;
- Liu, Pengfei;
- Bi, Weimin;
- Boerwinkle, Eric;
- Posey, Jennifer E.;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Lupski, James R.;
- Coban-Akdemir, Zeynep;
- Morris, Shaine A.
Publication type:
Article
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Published in:
Human Genetics, 2018, v. 137, n. 9, p. 689, doi. 10.1007/s00439-018-1907-y
By:
- Du, Renqian;
- Dinckan, Nuriye;
- Song, Xiaofei;
- Coban-Akdemir, Zeynep;
- Jhangiani, Shalini N.;
- Guven, Yeliz;
- Aktoren, Oya;
- Kayserili, Hulya;
- Petty, Lauren E.;
- Muzny, Donna M.;
- Below, Jennifer E.;
- Boerwinkle, Eric;
- Wu, Nan;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Lupski, James R.;
- Letra, Ariadne;
- Uyguner, Z. Oya
Publication type:
Article
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Published in:
Human Genetics, 2018, v. 137, n. 6/7, p. 553, doi. 10.1007/s00439-018-1910-3
By:
- Liu, Jiaqi;
- Zhou, Yangzhong;
- Liu, Sen;
- Song, Xiaofei;
- Yang, Xin-Zhuang;
- Fan, Yanhui;
- Chen, Weisheng;
- Akdemir, Zeynep Coban;
- Yan, Zihui;
- Zuo, Yuzhi;
- Du, Renqian;
- Liu, Zhenlei;
- Yuan, Bo;
- Zhao, Sen;
- Liu, Gang;
- Chen, Yixin;
- Zhao, Yanxue;
- Lin, Mao;
- Zhu, Qiankun;
- Niu, Yuchen
Publication type:
Article
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Published in:
Human Genetics, 2015, v. 134, n. 6, p. 671, doi. 10.1007/s00439-015-1548-3
By:
- Pehlivan, Davut;
- Coban Akdemir, Zeynep;
- Karaca, Ender;
- Bayram, Yavuz;
- Jhangiani, Shalini;
- Yildiz, Edibe Pembegul;
- Muzny, Donna;
- Uluc, Kayihan;
- Gibbs, Richard;
- Elcioglu, Nursel;
- Lupski, James;
- Harel, Tamar
Publication type:
Article
Whole-Exome Sequencing in Familial Parkinson Disease.
Published in:
JAMA Neurology, 2016, v. 73, n. 1, p. 68, doi. 10.1001/jamaneurol.2015.3266
By:
- Farlow, Janice L.;
- Robak, Laurie A.;
- Hetrick, Kurt;
- Bowling, Kevin;
- Boerwinkle, Eric;
- Coban-Akdemir, Zeynep H.;
- Gambin, Tomasz;
- Gibbs, Richard A.;
- Shen Gu;
- Jain, Preti;
- Jankovic, Joseph;
- Shalini Jhangiani;
- Kaw, Kaveeta;
- Dongbing Lai;
- Hai Lin;
- Hua Ling;
- Yunlong Liu;
- Lupski, James R.;
- Muzny, Donna;
- Porter, Paula
Publication type:
Article
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Published in:
BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0208-3
By:
- Wu-Lin Charng;
- Karaca, Ender;
- Coban Akdemir, Zeynep;
- Gambin, Tomasz;
- Atik, Mehmed M.;
- Shen Gu;
- Posey, Jennifer E.;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Doddapaneni, Harsha;
- Jianhong Hu;
- Boerwinkle, Eric;
- Gibbs, Richard A.;
- Rosenfeld, Jill A.;
- Hong Cui;
- Fan Xia;
- Manickam, Kandamurugu;
- Yaping Yang;
- Faqeih, Eissa A.;
- Al Asmari, Ali
Publication type:
Article
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
Published in:
2021
By:
- Wohler, Elizabeth;
- Martin, Renan;
- Griffith, Sean;
- Rodrigues, Eliete da S.;
- Antonescu, Corina;
- Posey, Jennifer E.;
- Coban-Akdemir, Zeynep;
- Jhangiani, Shalini N.;
- Doheny, Kimberly F.;
- Lupski, James R.;
- Valle, David;
- Hamosh, Ada;
- Sobreira, Nara
Publication type:
journal article
Human NK cell deficiency as a result of biallelic mutations in MCM10.
Published in:
2020
By:
- Mace, Emily M;
- Paust, Silke;
- Conte, Matilde I;
- Baxley, Ryan M;
- Schmit, Megan M;
- Patil, Sagar L;
- Guilz, Nicole C;
- Mukherjee, Malini;
- Pezzi, Ashley E;
- Chmielowiec, Jolanta;
- Tatineni, Swetha;
- Chinn, Ivan K;
- Akdemir, Zeynep Coban;
- Jhangiani, Shalini N;
- Muzny, Donna M;
- Stray-Pedersen, Asbjørg;
- Bradley, Rachel E;
- Moody, Mo;
- Connor, Philip P;
- Heaps, Adrian G
Publication type:
journal article
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.
Published in:
2020
By:
- Kuhny, Marcel;
- Forbes, Lisa R.;
- Çakan, Elif;
- Vega-Loza, Andrea;
- Kostiuk, Valentyna;
- Dinesh, Ravi K.;
- Glauzy, Salomé;
- Stray-Pedersen, Asbjorg;
- Pezzi, Ashley E.;
- Hanson, I. Celine;
- Vargas-Hernandez, Alexander;
- LuQuing Xu, Mina;
- Coban-Akdemir, Zeynep H.;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Lupski, James R.;
- Chinn, Ivan K.;
- Schatz, David G.;
- Orange, Jordan S.
Publication type:
journal article
Biallelic mutations in IRF8 impair human NK cell maturation and function.
Published in:
2017
By:
- Mace, Emily M.;
- Bigley, Venetia;
- Gunesch, Justin T.;
- Chinn, Ivan K.;
- Angelo, Laura S.;
- Care, Matthew A.;
- Maisuria, Sheetal;
- Keller, Michael D.;
- Sumihito Togi;
- Watkin, Levi B.;
- LaRosa, David F.;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Stray-Pedersen, Asbjørg;
- Akdemir, Zeynep Coban;
- Smith, Jansen B.;
- Hernández-Sanabria, Mayra;
- Le, Duy T.;
- Hogg, Graham D.;
- Cao, Tram N.
Publication type:
journal article
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Published in:
2016
By:
- Bayram, Yavuz;
- Karaca, Ender;
- Akdemir, Zeynep Coban;
- Yilmaz, Elif Ozdamar;
- Tayfun, Culsen Akay;
- Aydin, Hatip;
- Torun, Deniz;
- Bozdogan, Sevcan Tug;
- Cezdirici, Alper;
- Isikay, Sedat;
- Atik, Mehmed M.;
- Cambin, Tomasz;
- Harel, Tamar;
- El-Hattab, Ayman W.;
- Wu-Lin Charng;
- Pehlivan, Davut;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Karaman, Ali;
- Celik, Tamer
Publication type:
journal article
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 2052, doi. 10.1002/acn3.51454
By:
- Calame, Daniel G.;
- Fatih, Jawid M.;
- Herman, Isabella;
- Coban‐Akdemir, Zeynep;
- Du, Haowei;
- Mitani, Tadahiro;
- Jhangiani, Shalini N.;
- Marafi, Dana;
- Gibbs, Richard A.;
- Posey, Jennifer E.;
- Mehta, Vidya P.;
- Mohila, Carrie A.;
- Abid, Farida;
- Lotze, Timothy E.;
- Pehlivan, Davut;
- Adesina, Adekunle M.;
- Lupski, James R.
Publication type:
Article
AD-Syn-Net: systematic identification of Alzheimer's disease-associated mutation and co-mutation vulnerabilities via deep learning.
Published in:
Briefings in Bioinformatics, 2023, v. 24, n. 2, p. 1, doi. 10.1093/bib/bbad030
By:
- Pan, Xingxin;
- Akdemir, Zeynep H Coban;
- Gao, Ruixuan;
- Jiang, Xiaoqian;
- Sheynkman, Gloria M;
- Wu, Erxi;
- Huang, Jason H;
- Sahni, Nidhi;
- Yi, S Stephen
Publication type:
Article
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
Published in:
Clinical Genetics, 2019, v. 96, n. 4, p. 366, doi. 10.1111/cge.13605
By:
- Karolak, Justyna A.;
- Szafranski, Przemyslaw;
- Kilner, David;
- Patel, Chirag;
- Scurry, Bonnie;
- Kinning, Esther;
- Chandler, Kate;
- Jhangiani, Shalini N.;
- Coban Akdemir, Zeynep H.;
- Lupski, James R.;
- Popek, Edwina;
- Stankiewicz, Paweł
Publication type:
Article
Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
Published in:
2024
By:
- Bozkurt‑Yozgatli, Tugce;
- Pehlivan, Davut;
- Gibbs, Richard A.;
- Sezerman, Ugur;
- Posey, Jennifer E.;
- Lupski, James R.;
- Coban‑Akdemir, Zeynep
Publication type:
Correction Notice
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
Published in:
BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01852-4
By:
- Bozkurt-Yozgatli, Tugce;
- Pehlivan, Davut;
- Gibbs, Richard A.;
- Sezerman, Ugur;
- Posey, Jennifer E.;
- Lupski, James R.;
- Coban-Akdemir, Zeynep
Publication type:
Article
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1195, doi. 10.1002/jimd.12679
By:
- Duan, Ruizhi;
- Marafi, Dana;
- Xia, Zhi‐Jie;
- Ng, Bobby G.;
- Maroofian, Reza;
- Sumya, Farhana Taher;
- Saad, Ahmed K.;
- Du, Haowei;
- Fatih, Jawid M.;
- Hunter, Jill V.;
- Elbendary, Hasnaa M.;
- Baig, Shahid M.;
- Abdullah, Uzma;
- Ali, Zafar;
- Efthymiou, Stephanie;
- Murphy, David;
- Mitani, Tadahiro;
- Withers, Marjorie A.;
- Jhangiani, Shalini N.;
- Coban‐Akdemir, Zeynep
Publication type:
Article
Novel Combined Immune Deficiency and Radiation sensitivity Blended phenotype in an adult with Biallelic Variations in ZAP70 and RNF168.
Published in:
Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00576
By:
- Chinn, Ivan K.;
- Sanders, Robert P.;
- Stray-Pedersen, Asbjørg;
- Coban-Akdemir, Zeynep H.;
- Kim, Vy Hong-Diep;
- Dadi, Harjit;
- Roifman, Chaim M.;
- Quigg, Troy;
- Lupski, James R.;
- Orange, Jordan S.;
- Hanson, I. Celine
Publication type:
Article
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
Published in:
Nucleic Acids Research, 2024, v. 52, n. 4, p. e18, doi. 10.1093/nar/gkad1223
By:
- Du, Haowei;
- Dardas, Zain;
- Jolly, Angad;
- Grochowski, Christopher M;
- Jhangiani, Shalini N;
- Li, He;
- Muzny, Donna;
- Fatih, Jawid M;
- Yesil, Gozde;
- Elçioglu, Nursel H;
- Gezdirici, Alper;
- Marafi, Dana;
- Pehlivan, Davut;
- Calame, Daniel G;
- Carvalho, Claudia M B;
- Posey, Jennifer E;
- Gambin, Tomasz;
- Coban-Akdemir, Zeynep;
- Lupski, James R
Publication type:
Article
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Published in:
2019
By:
- Jolly, Angad;
- Bayram, Yavuz;
- Turan, Serap;
- Aycan, Zehra;
- Tos, Tulay;
- Abali, Zehra Yavas;
- Hacihamdioglu, Bulent;
- Coban Akdemir, Zeynep Hande;
- Hijazi, Hadia;
- Bas, Serpil;
- Atay, Zeynep;
- Guran, Tulay;
- Abali, Saygin;
- Bas, Firdevs;
- Darendeliler, Feyza;
- Colombo, Roberto;
- Barakat, Tahsin Stefan;
- Rinne, Tuula;
- White, Janson J;
- Yesil, Gozde
Publication type:
journal article
Variant‐level matching for diagnosis and discovery: Challenges and opportunities.
Published in:
Human Mutation, 2022, v. 43, n. 6, p. 782, doi. 10.1002/humu.24359
By:
- Rodrigues, Eliete da S.;
- Griffith, Sean;
- Martin, Renan;
- Antonescu, Corina;
- Posey, Jennifer E.;
- Coban‐Akdemir, Zeynep;
- Jhangiani, Shalini N.;
- Doheny, Kimberly F.;
- Lupski, James R.;
- Valle, David;
- Bamshad, Michael J.;
- Hamosh, Ada;
- Sheffer, Assaf;
- Chong, Jessica X.;
- Einhorn, Yaron;
- Cupak, Miro;
- Sobreira, Nara
Publication type:
Article
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Published in:
Human Mutation, 2020, v. 41, n. 3, p. 641, doi. 10.1002/humu.23960
By:
- Assia Batzir, Nurit;
- Kishor Bhagwat, Pranjali;
- Larson, Austin;
- Coban Akdemir, Zeynep;
- Bagłaj, Maciej;
- Bofferding, Leon;
- Bosanko, Katherine B.;
- Bouassida, Skander;
- Callewaert, Bert;
- Cannon, Ashley;
- Enchautegui Colon, Yazmin;
- Garnica, Adolfo D.;
- Harr, Margaret H.;
- Heck, Sandra;
- Hurst, Anna C. E.;
- Jhangiani, Shalini N.;
- Isidor, Bertrand;
- Littlejohn, Rebecca O.;
- Liu, Pengfei;
- Magoulas, Pilar
Publication type:
Article
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Published in:
Human Mutation, 2020, v. 41, n. 2, p. 487, doi. 10.1002/humu.23946
By:
- Ngo, Kathie J.;
- Rexach, Jessica E.;
- Lee, Hane;
- Petty, Lauren E.;
- Perlman, Susan;
- Valera, Juliana M.;
- Deignan, Joshua L.;
- Mao, Yuanming;
- Aker, Mamdouh;
- Posey, Jennifer E.;
- Jhangiani, Shalini N.;
- Coban‐Akdemir, Zeynep H.;
- Boerwinkle, Eric;
- Muzny, Donna;
- Nelson, Alexandra B.;
- Hassin‐Baer, Sharon;
- Poke, Gemma;
- Neas, Katherine;
- Geschwind, Michael D.;
- Grody, Wayne W.
Publication type:
Article
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0633-y
By:
- Carvalho, Claudia M. B.;
- Coban-Akdemir, Zeynep;
- Hijazi, Hadia;
- Yuan, Bo;
- Pendleton, Matthew;
- Harrington, Eoghan;
- Beaulaurier, John;
- Juul, Sissel;
- Turner, Daniel J.;
- Kanchi, Rupa S.;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Stankiewicz, Pawel;
- Belmont, John W.;
- Shaw, Chad A.;
- Cheung, Sau Wai;
- Hanchard, Neil A.;
- Sutton, V. Reid;
- Bader, Patricia I.
Publication type:
Article
Identification of novel candidate disease genes from de novo exonic copy number variants.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0472-7
By:
- Gambin, Tomasz;
- Bo Yuan;
- Weimin Bi;
- Pengfei Liu;
- Rosenfeld, Jill A.;
- Coban-Akdemir, Zeynep;
- Pursley, Amber N.;
- Nagamani, Sandesh C. S.;
- Marom, Ronit;
- Golla, Sailaja;
- Dengle, Lauren;
- Petrie, Heather G.;
- Matalon, Reuben;
- Emrick, Lisa;
- Proud, Monica B.;
- Treadwell-Deering, Diane;
- Hsiao-Tuan Chao;
- Koillinen, Hannele;
- Brown, Chester;
- Urraca, Nora
Publication type:
Article
Lessons learned from additional research analyses of unsolved clinical exome cases.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0412-6
By:
- Eldomery, Mohammad K.;
- Coban-Akdemir, Zeynep;
- Harel, Tamar;
- Rosenfeld, JillA.;
- Gambin, Tomasz;
- Stray-Pedersen, Asbjørg;
- Küry, Sébastien;
- Mercier, Sandra;
- Lessel, Davor;
- Denecke, Jonas;
- Wiszniewski, Wojciech;
- Penney, Samantha;
- Pengfei Liu;
- Weimin Bi;
- Lalani, Seema R.;
- Schaaf, Christian P.;
- Wangler, Michael F.;
- Bacino, Carlos A.;
- Lewis, Richard Alan;
- Potocki, Lorraine
Publication type:
Article
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Published in:
Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0359-z
By:
- Loviglio, Maria Nicla;
- Beck, Christine R.;
- White, Janson J.;
- Leleu, Marion;
- Harel, Tamar;
- Guex, Nicolas;
- Niknejad, Anne;
- Bi, Weimin;
- Chen, Edward S.;
- Crespo, Isaac;
- Jiong Yan;
- Wu-Lin Charng;
- Shen Gu;
- Ping Fang;
- Coban-Akdemir, Zeynep;
- Shaw, Chad A.;
- Jhangiani, Shalini N.;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Rougemont, Jacques
Publication type:
Article
Mechanisms for Complex Chromosomal Insertions.
Published in:
PLoS Genetics, 2016, v. 12, n. 11, p. 1, doi. 10.1371/journal.pgen.1006446
By:
- Gu, Shen;
- Szafranski, Przemyslaw;
- Akdemir, Zeynep Coban;
- Yuan, Bo;
- Cooper, Mitchell L.;
- Magriñá, Maria A.;
- Bacino, Carlos A.;
- Lalani, Seema R.;
- Breman, Amy M.;
- Smith, Janice L.;
- Patel, Ankita;
- Song, Rodger H.;
- Bi, Weimin;
- Cheung, Sau Wai;
- Carvalho, Claudia M. B.;
- Stankiewicz, Paweł;
- Lupski, James R.
Publication type:
Article

Found: 48