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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3162, doi. 10.1093/brain/awad124
By:
- Calame, Daniel G;
- Vadillo, Cristina Moreno;
- Berger, Seth;
- Lotze, Timothy;
- Shinawi, Marwan;
- Poupak, Javaher;
- Heller, Corina;
- Cohen, Julie;
- Person, Richard;
- Telegrafi, Aida;
- Phitsanuwong, Chalongchai;
- Fiala, Kaylene;
- Thiffault, Isabelle;
- Viso, Florencia Del;
- Zhou, Dihong;
- Fleming, Emily A;
- Pastinen, Tomi;
- Fatemi, Ali;
- Thomas, Sruthi;
- Pascual, Samuel I
Publication type:
Article
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
Published in:
2021
By:
- Ghaleb, Yousra El;
- Schneeberger, Pauline E;
- Fernández-Quintero, Monica L;
- Geisler, Stefanie M;
- Pelizzari, Simone;
- Polstra, Abeltje M;
- Hagen, Johanna M van;
- Denecke, Jonas;
- Campiglio, Marta;
- Liedl, Klaus R;
- Stevens, Cathy A;
- Person, Richard E;
- Rentas, Stefan;
- Marsh, Eric D;
- Conlin, Laura K;
- Tuluc, Petronel;
- Kutsche, Kerstin;
- Flucher, Bernhard E;
- El Ghaleb, Yousra;
- van Hagen, Johanna M
Publication type:
journal article
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Published in:
2020
By:
- Neuray, Caroline;
- Maroofian, Reza;
- Scala, Marcello;
- Sultan, Tipu;
- Pai, Gurpur S;
- Mojarrad, Majid;
- Khashab, Heba El;
- deHoll, Leigh;
- Yue, Wyatt;
- Alsaif, Hessa S;
- Zanetti, Maria N;
- Bello, Oscar;
- Person, Richard;
- Eslahi, Atieh;
- Khazaei, Zaynab;
- Feizabadi, Masoumeh H;
- Efthymiou, Stephanie;
- Group, SYNaPS Study;
- El-Bassyouni, Hala T;
- Soliman, Doaa R
Publication type:
journal article
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Published in:
2020
By:
- Scala, Marcello;
- Mojarrad, Majid;
- Riazuddin, Saima;
- Brigatti, Karlla W;
- Ammous, Zineb;
- Cohen, Julie S;
- Hosny, Heba;
- Usmani, Muhammad A;
- Shahzad, Mohsin;
- Riazuddin, Sheikh;
- Stanley, Valentina;
- Eslahi, Atiye;
- Person, Richard E;
- Elbendary, Hasnaa M;
- Comi, Anne M;
- Poskitt, Laura;
- Salpietro, Vincenzo;
- Genomics, Queen Square;
- Rosenfeld, Jill A;
- Williams, Katie B
Publication type:
Letter
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Published in:
Human Genetics, 2021, v. 140, n. 7, p. 1109, doi. 10.1007/s00439-021-02283-2
By:
- Parenti, Ilaria;
- Lehalle, Daphné;
- Nava, Caroline;
- Torti, Erin;
- Leitão, Elsa;
- Person, Richard;
- Mizuguchi, Takeshi;
- Matsumoto, Naomichi;
- Kato, Mitsuhiro;
- Nakamura, Kazuyuki;
- de Man, Stella A.;
- Cope, Heidi;
- Shashi, Vandana;
- Friedman, Jennifer;
- Joset, Pascal;
- Steindl, Katharina;
- Rauch, Anita;
- Muffels, Irena;
- van Hasselt, Peter M.;
- Petit, Florence
Publication type:
Article
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1276, doi. 10.1002/ajmg.a.61173
By:
- Stolerman, Elliot S.;
- Francisco, Elizabeth;
- Stallworth, Jennifer L.;
- Jones, Julie R.;
- Monaghan, Kristin G.;
- Keller‐Ramey, Jennifer;
- Person, Richard;
- Wentzensen, Ingrid M.;
- McWalter, Kirsty;
- Keren, Boris;
- Heron, Benedicte;
- Nava, Caroline;
- Heron, Delphine;
- Kim, Katherine;
- Burton, Barbara;
- Al‐Musafri, Fatima;
- O'Grady, Lauren;
- Sahai, Inderneel;
- Escobar, Luis F.;
- Meuwissen, Marije
Publication type:
Article
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 891, doi. 10.1002/ajmg.a.37491
By:
- Atwal, Paldeep Singh;
- Blease, Sophie;
- Braxton, Alicia;
- Graves, Julia;
- He, Weimin;
- Person, Richard;
- Slattery, Leah;
- Bernstein, Jonathan Adam;
- Hudgins, Louanne
Publication type:
Article
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2557, doi. 10.1002/ajmg.a.35549
By:
- Burrage, Lindsay C.;
- Person, Richard E.;
- Flores, Angela;
- Villanos, Maria Theresa M.;
- Bi, Weimin;
- Wiszniewska, Joanna;
- Bacino, Carlos A.
Publication type:
Article
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
Published in:
Nature Genetics, 2008, v. 40, n. 6, p. 719, doi. 10.1038/ng.158
By:
- Sahoo, Trilochan;
- del Gaudio, Daniela;
- German, Jennifer R.;
- Shinawi, Marwan;
- Peters, Sarika U.;
- Person, Richard E.;
- Garnica, Adolfo;
- Cheung, Sau Wai;
- Beaudet, Arthur L.
Publication type:
Article
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.
Published in:
Nature Genetics, 2003, v. 35, n. 1, p. 90, doi. 10.1038/ng1224
By:
- Benson, Kathleen F.;
- Feng-Qian Li;
- Person, Richard E.;
- Albani, Dalila;
- Zhijun Duan;
- Jeremy Wechsler;
- Meade-White, Kimberly;
- Williams, Kayleen;
- Acland, Gregory M.;
- Niemeyer, Glenn;
- Lothrop, Clinton D.;
- Horwitz, Marshall
Publication type:
Article
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.
Published in:
Nature Genetics, 2003, v. 34, n. 3, p. 308, doi. 10.1038/ng1170
By:
- Person, Richard E;
- Li, Feng-Qian;
- Duan, Zhijun;
- Benson, Kathleen F;
- Wechsler, Jeremy;
- Papadaki, Helen A;
- Eliopoulos, George;
- Kaufman, Christina;
- Bertolone, Salvatore J;
- Nakamoto, Betty;
- Papayannopoulou, Thalia;
- Grimes, H Leighton;
- Horwitz, Marshall
Publication type:
Article
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.
Published in:
Nature Genetics, 1999, v. 23, n. 4, p. 433, doi. 10.1038/70544
By:
- Horwitz, Marshall;
- Benson, Kathleen F.;
- Person, Richard E.;
- Aprikyan, Andrew G.;
- Dale, David C.
Publication type:
Article
THALLIUM-201 AND TECHNETIUM-99m PYROPHOSPHATE MYOCARDIAL IMAGING IN THE CORONARY CARE UNIT.
Published in:
Journal of Nuclear Medicine, 1983, v. 24, n. 5, p. 452
By:
- Person, Richard
Publication type:
Article
Involvement of Mitochondria and Other Free Radical Sources in Normal and Abnormal Fetal Development.
Published in:
Annals of the New York Academy of Sciences, 2002, v. 959, n. 1, p. 424, doi. 10.1111/j.1749-6632.2002.tb02112.x
By:
- FANTEL, ALAN G.;
- PERSON, RICHARD E.
Publication type:
Article
Enteritis necroticans with recurrent enterocutaneous fistulae caused by Clostridium perfringens in a child with cyclic neutropenia.
Published in:
2004
By:
- Li, Ding-You;
- Scheimann, Ann O;
- Songer, J Glenn;
- Person, Richard E;
- Horwitz, Marshall;
- Resar, Linda;
- Schwarz, Kathleen B
Publication type:
journal article
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Published in:
Human Genetics, 2018, v. 137, n. 5, p. 375, doi. 10.1007/s00439-018-1887-y
By:
- Snijders Blok, Lot;
- Hiatt, Susan M.;
- Bowling, Kevin M.;
- Prokop, Jeremy W.;
- Engel, Krysta L.;
- Cochran, J. Nicholas;
- Bebin, E. Martina;
- Bijlsma, Emilia K.;
- Ruivenkamp, Claudia A. L.;
- Terhal, Paulien;
- Simon, Marleen E. H.;
- Smith, Rosemarie;
- Hurst, Jane A.;
- The DDD study;
- McLaughlin, Heather;
- Person, Richard;
- Crunk, Amy;
- Wangler, Michael F.;
- Streff, Haley;
- Symonds, Joseph D.
Publication type:
Article
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102
By:
- Duker, Angela L.;
- Ballif, Blake C.;
- Bawle, Erawati V.;
- Person, Richard E.;
- Mahadevan, Sangeetha;
- Alliman, Sarah;
- Thompson, Regina;
- Traylor, Ryan;
- Bejjani, Bassem A.;
- Shaffer, Lisa G.;
- Rosenfeld, Jill A.;
- Lamb, Allen N.;
- Sahoo, Trilochan
Publication type:
Article
Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia.
Published in:
Nucleic Acids Research, 2004, v. 32, n. 21, p. 6327, doi. 10.1093/nar/gkh974
By:
- Benson, Kathleen F.;
- Person, Richard E.;
- Li, Feng-Qian;
- Williams, Kayleen;
- Horwitz, Marshall
Publication type:
Article
Phenotypic continuum of NFU1‐related disorders.
Published in:
2022
By:
- Kaiyrzhanov, Rauan;
- Zaki, Maha S.;
- Lau, Tracy;
- Sen, Sambuddha;
- Azizimalamiri, Reza;
- Zamani, Mina;
- Sayin, Gözde Yeşil;
- Hilander, Taru;
- Efthymiou, Stephanie;
- Chelban, Viorica;
- Brown, Ruth;
- Thompson, Kyle;
- Scarano, Maria Irene;
- Ganesh, Jaya;
- Koneev, Kairgali;
- Gülaçar, Ismail Musab;
- Person, Richard;
- Sadykova, Dinara;
- Maidyrov, Yerdan;
- Seifi, Tahereh
Publication type:
Case Study
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2320, doi. 10.1002/acn3.51209
By:
- Diaz, Frank;
- Khosa, Shaweta;
- Niyazov, Dmitriy;
- Lee, Hane;
- Person, Richard;
- Morrow, Michelle M.;
- Signer, Rebecca;
- Dorrani, Naghmeh;
- Zheng, Allison;
- Herzog, Matthew;
- Freundlich, Robert;
- Birath, J. Brandon;
- Cervantes‐Manzo, Yurivia;
- Martinez‐Agosto, Julian A.;
- Palmer, Christina;
- Nelson, Stanley F.;
- Fogel, Brent L.;
- Mishra, Shri K.
Publication type:
Article
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 15, p. 3345, doi. 10.1093/hmg/dds166
By:
- Dharmadhikari, Avinash V.;
- Kang, Sung-Hae L.;
- Szafranski, Przemyslaw;
- Person, Richard E.;
- Sampath, Srirangan;
- Prakash, Siddharth K.;
- Bader, Patricia I.;
- Phillips, John A.;
- Hannig, Vickie;
- Williams, Misti;
- Vinson, Sherry S.;
- Wilfong, Angus A.;
- Reimschisel, Tyler E.;
- Craigen, William J.;
- Patel, Ankita;
- Bi, Weimin;
- Lupski, James R.;
- Belmont, John;
- Cheung, Sau Wai;
- Stankiewicz, Pawel
Publication type:
Article
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 13, p. 3001, doi. 10.1093/hmg/dds130
By:
- Meng, Linyan;
- Person, Richard E.;
- Beaudet, Arthur L.
Publication type:
Article
Truncation of <i>Ube3a-ATS</i> Unsilences Paternal <i>Ube3a</i> and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model.
Published in:
PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004039
By:
- Meng, Linyan;
- Person, Richard Erwin;
- Huang, Wei;
- Zhu, Ping Jun;
- Costa-Mattioli, Mauro;
- Beaudet, Arthur L.
Publication type:
Article
A new approach in exciton-coupled circular dichroism (ECCD)-insertion of an auxiliary stereogenic center.
Published in:
Chirality, 1995, v. 7, n. 3, p. 128, doi. 10.1002/chir.530070304
By:
- Person, Richard V.;
- Monde, Kenji;
- Humpf, Hans-ulrich;
- Berova, Nina;
- Nakanishi, Koji
Publication type:
Article
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Published in:
Human Mutation, 2010, v. 31, n. 7, p. 840, doi. 10.1002/humu.21284
By:
- Szafranski, Przemyslaw;
- Schaaf, Christian P.;
- Person, Richard E.;
- Gibson, Ian B.;
- Xia, Zhilian;
- Mahadevan, Sangeetha;
- Wiszniewska, Joanna;
- Bacino, Carlos A.;
- Lalani, Seema;
- Potocki, Lorraine;
- Kang, Sung-Hae;
- Patel, Ankita;
- Cheung, Sau Wai;
- Probst, Frank J.;
- Graham, Brett H.;
- Shinawi, Marwan;
- Beaudet, Arthur L.;
- Stankiewicz, Pawel
Publication type:
Article
Non-syndromic progressive hearingloss DFNA38 is caused by heterozygous missensemutation in the Wolfram syndrome gene WFS1.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 22, p. 2509, doi. 10.1093/hmg/10.22.2509
By:
- Young, Terry-Lynn;
- Ives, Elizabeth;
- Lynch, Eric;
- Person, Richard;
- Snook, Stephanie;
- MacLaren, Linda;
- Cator, Tracey;
- Griffin, Anne;
- Fernandez, Bridget;
- Lee, Ming K.;
- King, Mary-Claire
Publication type:
Article
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.
Published in:
JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1869, doi. 10.1001/jama.2014.14601
By:
- Yaping Yang;
- Muzny, Donna M.;
- Fan Xia;
- Zhiyv Niu;
- Person, Richard;
- Yan Ding;
- Ward, Patricia;
- Braxton, Alicia;
- Min Wang;
- Buhay, Christian;
- Veeraraghavan, Narayanan;
- Hawes, Alicia;
- Chiang, Theodore;
- Leduc, Magalie;
- Beuten, Joke;
- Jing Zhang;
- Weimin He;
- Scull, Jennifer;
- Willis, Alecia;
- Landsverk, Megan
Publication type:
Article
POGZ truncating alleles cause syndromic intellectual disability.
Published in:
Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-015-0253-0
By:
- White, Janson;
- Beck, Christine R.;
- Harel, Tamar;
- Posey, Jennifer E.;
- Jhangiani, Shalini N.;
- Sha Tang;
- Farwell, Kelly D.;
- Powis, Zöe;
- Mendelsohn, Nancy J.;
- Baker, Janice A.;
- Pollack, Lynda;
- Mason, Kati J.;
- Wierenga, Klaas J.;
- Arrington, Daniel K.;
- Hall, Melissa;
- Psychogios, Apostolos;
- Fairbrother, Laura;
- Walkiewicz, Magdalena;
- Person, Richard E.;
- Zhiyv Niu
Publication type:
Article

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