Works by Schwartz, Charles E

Results: 94

Medical Residents' Perceptions of End-of-Life Care Training in a Large Urban Teaching Hospital.

Published in:

Journal of Palliative Medicine, 2003, v. 6, n. 1, p. 37, doi. 10.1089/10966210360510109

By:

Schwartz, Charles E.;
Goulet, Joseph L.;
Gorski, Victoria;
Selwyn, Peter A.

Publication type:

Article

Personal journeys to and in human genetics and dysmorphology.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514

By:

Schwartz, Charles E.;
Aylsworth, Arthur S.;
Allanson, Judith;
Battaglia, Agatino;
Carey, John C.;
Curry, Cynthia J.;
Davies, Kay E.;
Eichler, Evan E.;
Graham, John M.;
Hall, Bryan;
Hall, Judith G.;
Holmes, Lewis B.;
Hoyme, H. Eugene;
Hunter, Alasdair;
Innis, Jeffrey;
Johnson, John;
Keppler‐Noreuil, Kim M.;
Leroy, Jules G.;
Moore, Cynthia;
Nelson, David L.

Publication type:

Article

X‐Linked intellectual disability update 2022.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 144, doi. 10.1002/ajmg.a.63008

By:

Schwartz, Charles E.;
Louie, Raymond J.;
Toutain, Annick;
Skinner, Cindy;
Friez, Michael J.;
Stevenson, Roger E.

Publication type:

Article

X-Linked MCT8 Gene Mutations: Characterization of the Pediatric Neurologic Phenotype.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 10, p. 852, doi. 10.1177/08830738050200101601

By:

Holden, Kenton R.;
Zuñoga, Oscar F.;
May, Melani M.;
Su, Humberto;
Molinero, Marco R.;
Rogers, R. Curtis;
Schwartz, Charles E.

Publication type:

Article

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.

Published in:

JAMA Network Open, 2022, v. 5, n. 1, p. e2141911, doi. 10.1001/jamanetworkopen.2021.41911

By:

Godler, David E.;
Ling, Ling;
Gamage, Dinusha;
Baker, Emma K.;
Bui, Minh;
Field, Michael J.;
Rogers, Carolyn;
Butler, Merlin G.;
Murgia, Alessandra;
Leonardi, Emanuela;
Polli, Roberta;
Schwartz, Charles E.;
Skinner, Cindy D.;
Alliende, Angelica M.;
Santa Maria, Lorena;
Pitt, James;
Greaves, Ronda;
Francis, David;
Oertel, Ralph;
Wang, Min

Publication type:

Article

A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 9, p. 627, doi. 10.1038/jhg.2010.70

By:

Yilmaz, Ahmet;
Hamel, Nancy;
Schwartz, Charles E;
Houlston, Richard S;
Harper, John I;
Foulkes, William D

Publication type:

Article

Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 173, doi. 10.1111/cge.14445

By:

Sahajpal, Nikhil;
Ziats, Catherine;
Chaubey, Alka;
DuPont, Barbara R.;
Abidi, Fatima;
Schwartz, Charles E.;
Stevenson, Roger E.

Publication type:

Article

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 167, doi. 10.1111/cge.14248

By:

Wongkittichote, Parith;
Choi, Tae‐Ik;
Kim, Oc‐Hee;
Riley, Kacie;
Koeberl, Dwight;
Narayanan, Vinodh;
Ramsey, Keri;
Balak, Chris;
Schwartz, Charles E.;
Cueto‐Gonzalez, Anna Maria;
Casadesus, Francina Munell;
Kim, Cheol‐Hee;
Shinawi, Marwan S.

Publication type:

Article

X‐linked intellectual disability: Phenotypic expression in carrier females.

Published in:

Clinical Genetics, 2020, v. 97, n. 3, p. 418, doi. 10.1111/cge.13667

By:

Ziats, Catherine A.;
Schwartz, Charles E.;
Gecz, Jozef;
Shaw, Marie;
Field, Michael J.;
Stevenson, Roger E.;
Neri, Giovanni

Publication type:

Article

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 310, doi. 10.1038/ejhg.2012.175

By:

Boccuto, Luigi;
Lauri, Maria;
Sarasua, Sara M;
Skinner, Cindy D;
Buccella, Daniela;
Dwivedi, Alka;
Orteschi, Daniela;
Collins, Julianne S;
Zollino, Marcella;
Visconti, Paola;
DuPont, Barb;
Tiziano, Danilo;
Schroer, Richard J;
Neri, Giovanni;
Stevenson, Roger E;
Gurrieri, Fiorella;
Schwartz, Charles E

Publication type:

Article

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1311, doi. 10.1038/ejhg.2012.61

By:

Shoubridge, Cheryl;
Gardner, Alison;
Schwartz, Charles E;
Hackett, Anna;
Field, Michael;
Gecz, Jozef

Publication type:

Article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.114

By:

Rujirabanjerd, Sinitdhorn;
Nelson, John;
Tarpey, Patrick S;
Hackett, Anna;
Edkins, Sarah;
Raymond, F Lucy;
Schwartz, Charles E;
Turner, Gillian;
Iwase, Shigeki;
Shi, Yang;
Futreal, P Andrew;
Stratton, Michael R;
Gecz, Jozef

Publication type:

Article

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1144, doi. 10.1038/ejhg.2011.97

By:

Armour, Christine M;
Bulman, Dennis E;
Jarinova, Olga;
Rogers, Richard Curtis;
Clarkson, Kate B;
DuPont, Barbara R;
Dwivedi, Alka;
Bartel, Frank O;
McDonell, Laura;
Schwartz, Charles E;
Boycott, Kym M;
Everman, David B;
Graham, Gail E

Publication type:

Article

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 56, doi. 10.1038/ejhg.2010.134

By:

Betsalel, Ofir T.;
Rosenberg, Efraim H.;
Almeida, Ligia S.;
Kleefstra, Tjitske;
Schwartz, Charles E.;
Valayannopoulos, Vassili;
Abdul-Rahman, Omar;
Poplawski, Nicola;
Vilarinho, Laura;
Wolf, Philipp;
den Dunnen, Johan T.;
Jakobs, Cornelis;
Salomons, Gajja S.

Publication type:

Article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 330, doi. 10.1038/ejhg.2009.175

By:

Rujirabanjerd, Sinitdhorn;
Nelson, John;
Tarpey, Patrick S.;
Hackett, Anna;
Edkins, Sarah;
Raymond, F Lucy;
Schwartz, Charles E.;
Turner, Gillian;
Iwase, Shigeki;
Yang Shi;
Futreal, P. Andrew;
Stratton, Michael R.;
Gecz, Jozef

Publication type:

Article

XLMR genes: update 2007.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 4, p. 422, doi. 10.1038/sj.ejhg.5201994

By:

Chiurazzi, Pietro;
Schwartz, Charles E;
Gecz, Jozef;
Neri, Giovanni

Publication type:

Article

Mutation in the 5'alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 176, doi. 10.1038/sj.ejhg.5201303

By:

Abidi, Fatima E.;
Cardoso, Carlos;
Lossi, Anne-Marie;
Lowry, Robert Brian;
Depetris, Danielle;
Mattéi, Marie-Geneviève;
Lubs, Herbert A.;
Stevenson, Roger E.;
Fontes, Michel;
Chudley, Albert E.;
Schwartz, Charles E.

Publication type:

Article

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 937, doi. 10.1038/sj.ejhg.5201072

By:

Cason, A. Lauren;
Ikeguchi, Yoshihiko;
Skinner, Cindy;
Wood, Tim C.;
Holden, Kenton R.;
Lubs, Herbert A.;
Martinez, Francisco;
Simensen, Richard J.;
Stevenson, Roger E.;
Pegg, Anthony E.;
Schwartz, Charles E.

Publication type:

Article

Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 757, doi. 10.1038/sj.ejhg.5200877

By:

Vervoort, Virginie S;
Smith, Richard J H;
O'Brien, Jane;
Schroer, Richard;
Abbott, Albert;
Stevenson, Roger E;
Schwartz, Charles E

Publication type:

Article

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 20, doi. 10.1038/sj.ejhg.5200231

By:

Abidi, Fatima;
Jacquot, Sylvie;
Lassiter, Christopher;
Trivier, Elizabeth;
Hanauer, André;
Schwartz, Charles E

Publication type:

Article

Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree.

Published in:

Journal of International Medical Research, 2020, v. 48, n. 4, p. 1, doi. 10.1177/0300060519879293

By:

Funk, Christopher Ronald;
Huey, Elizabeth S.;
May, Melanie M.;
Yunhui Peng;
Michonova, Ekaterina;
Best, Robert G.;
Schwartz, Charles E.;
Blenda, Anna V.

Publication type:

Article

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

Published in:

Nature Genetics, 2010, v. 42, n. 6, p. 486, doi. 10.1038/ng.588

By:

Shoubridge, Cheryl;
Tarpey, Patrick S.;
Abidi, Fatima;
Ramsden, Sarah L.;
Rujirabanjerd, Sinitdhorn;
Murphy, Jessica A.;
Boyle, Jackie;
Shaw, Marie;
Gardner, Alison;
Proos, Anne;
Puusepp, Helen;
Raymond, F. Lucy;
Schwartz, Charles E.;
Stevenson, Roger E.;
Turner, Gill;
Field, Michael;
Walikonis, Randall S.;
Harvey, Robert J.;
Hackett, Anna;
Futreal, P. Andrew

Publication type:

Article

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Published in:

Nature Genetics, 2007, v. 39, n. 4, p. 451, doi. 10.1038/ng1992

By:

Risheg, Hiba;
Graham Jr., John M.;
Clark, Robin D.;
Rogers, R. Curtis;
Opitz, John M.;
Moeschler, John B.;
Peiffer, Andreas P.;
May, Melanie;
Joseph, Sumy M.;
Jones, Julie R.;
Stevenson, Roger E.;
Schwartz, Charles E.;
Friez, Michael J.

Publication type:

Article

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 487

By:

Robertson, Stephen P.;
Twigg, Stephen R.F.;
Sutherland-Smith, Andrew J.;
Biancalana, Valerie;
Gorlin, Robert J.;
Horn, Denise;
Kenwrick, Susan J.;
Kim, Chong A.;
Morava, Eva;
Newbury-Ecob, Ruth;
Orstavik, Karen H.;
Quarrell, Oliver W.J.;
Schwartz, Charles E.;
Shears, Deborah J.;
Suri, Mohnish;
Kendrick-Jones, John;
Bacino, C.;
Becker, K.;
Clayton-Smith, J.

Publication type:

Article

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10712, doi. 10.3390/ijms241310712

By:

Godler, David E.;
Inaba, Yoshimi;
Bui, Minh Q.;
Francis, David;
Skinner, Cindy;
Schwartz, Charles E.;
Amor, David J.

Publication type:

Article

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 8, p. 1019, doi. 10.1093/hmg/ddi094

By:

Ramser, Juliane;
Abidi, Fatima E.;
Burckle, Celine A.;
Lenski, Claus;
Toriello, Helga;
Wen, Gaiping;
Lubs, Herbert A.;
Engert, Stefanie;
Stevenson, Roger E.;
Meindl, Alfons;
Schwartz, Charles E.;
Nguyen, Genevieve

Publication type:

Article

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.

Published in:

Autism Research: Official Journal of the International Society for Autism Research, 2009, v. 2, n. 4, p. 232, doi. 10.1002/aur.87

By:

Jackson, Pamela B.;
Boccuto, Luigi;
Skinner, Cindy;
Collins, Julianne S.;
Neri, Giovanni;
Gurrieri, Fiorella;
Schwartz, Charles E.

Publication type:

Article

Impact of cadaver dissection: Working toward solutions.

Published in:

Anatomical Sciences Education, 2008, v. 1, n. 6, p. 269, doi. 10.1002/ase.54

By:

Schwartz, Charles E.;
Downie, Sherry A.;
Fornari, Alice B.;
Olson, Todd R.

Publication type:

Article

Germline mosaicism in X-linked myotubular myopathy.

Published in:

Clinical Genetics, 1999, v. 56, n. 1, p. 77, doi. 10.1034/j.1399-0004.1999.560111.x

By:

Häne, Bernhard G;
Curtis Rogers, R;
Schwartz, Charles E

Publication type:

Article

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.

Published in:

Clinical Genetics, 1995, v. 47, n. 2, p. 90, doi. 10.1111/j.1399-0004.1995.tb03930.x

By:

Marinoni, Jean-Christophe;
Stevenson, Roger E.;
Evans, James P.;
Geshuri, Dorrit;
Phelan, Mary C.;
Schwartz, Charles E.

Publication type:

Article

Using the polymerase chain reaction to maintain DNA probe inventories in clinical and diagnostic laboratories.

Published in:

Clinical Genetics, 1991, v. 39, n. 2, p. 121, doi. 10.1111/j.1399-0004.1991.tb02997.x

By:

Tarleton, Jack;
Schwartz, Charles E.

Publication type:

Article

Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.

Published in:

Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0168-2

By:

Oc-Hee Kim;
Hyun-Ju Cho;
Han, Enna;
Ted Inpyo Hong;
Ariyasiri, Krishan;
Jung-Hwa Choi;
Kyu-Seok Hwang;
Yun-Mi Jeong;
Se-Yeol Yang;
Kweon Yu;
Doo-Sang Park;
Hyun-Woo Oh;
Davis, Erica E.;
Schwartz, Charles E.;
Jeong-Soo Lee;
Hyung-Goo Kim;
Cheol-Hee Kim

Publication type:

Article

Decreased tryptophan metabolism in patients with autism spectrum disorders.

Published in:

Molecular Autism, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2040-2392-4-16

By:

Luigi Boccuto;
Chin-Fu Chen;
Ayla R. Pittman;
Cindy D. Skinner;
Heather J. McCartney;
Kelly Jones;
Barry R. Bochner;
Roger E. Stevenson;
Charles E. Schwartz

Publication type:

Article

PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism.

Published in:

Molecular Autism, 2010, v. 1, n. 1, p. 1, doi. 10.1186/2040-2392-1-14

By:

Satterfield, Brent C.;
Garcia, Rebecca A.;
Gurrieri, Fiorella;
Schwartz, Charles E.

Publication type:

Article

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0235-8

By:

Albert, Jessica S.;
Bhattacharyya, Nisan;
Wolfe, Lynne A.;
Bone, William P.;
Maduro, Valerie;
Accardi, John;
Adams, David R.;
Schwartz, Charles E.;
Norris, Joy;
Wood, Tim;
Gafni, Rachel I.;
Collins, Michael T.;
Tosi, Laura L.;
Markello, Thomas C.;
Gahl, William A.;
Boerkoel, Cornelius F.

Publication type:

Article

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

Published in:

2015

By:

Albert, Jessica S;
Bhattacharyya, Nisan;
Wolfe, Lynne A;
Bone, William P;
Maduro, Valerie;
Accardi, John;
Adams, David R;
Schwartz, Charles E;
Norris, Joy;
Wood, Tim;
Gafni, Rachel I;
Collins, Michael T;
Tosi, Laura L;
Markello, Thomas C;
Gahl, William A;
Boerkoel, Cornelius F

Publication type:

journal article

Protein sector analysis for the clustering of disease-associated mutations.

Published in:

BMC Genomics, 2014, v. 15, p. 1, doi. 10.1186/1471-2164-15-S11-S4

By:

Guevara-Coto, Jose;
Schwartz, Charles E.;
Liangjiang Wang

Publication type:

Article

Functional characterization of missense variants in the creatine transporter gene ( SLC6A8): improved diagnostic application.

Published in:

Human Mutation, 2007, v. 28, n. 9, p. 890, doi. 10.1002/humu.20532

By:

Rosenberg, Efraim H.;
Martínez Muñoz, Cristina;
Betsalel, Ofir T.;
van Dooren, Silvy J.M.;
Fernandez, Matilde;
Jakobs, Cornelis;
deGrauw, Ton J.;
Kleefstra, Tjitske;
Schwartz, Charles E.;
Salomons, Gajja S.

Publication type:

Article

Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 582, doi. 10.1002/humu.20048

By:

Chang, Eugene H.;
Menezes, Maithilee;
Meyer, Nicole C.;
Cucci, Robert A.;
Vervoort, Virginie S.;
Schwartz, Charles E.;
Smith, Richard J.H.

Publication type:

Article

Mutations in the X-linked RSK2 gene ( RPS6KA3) in patients with Coffin-Lowry syndrome.

Published in:

Human Mutation, 2001, v. 17, n. 2, p. 103, doi. 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N

By:

Delaunoy, Jean-Pierre;
Abidi, Fatima;
Zeniou, Maria;
Jacquot, Sylvie;
Merienne, Karine;
Pannetier, Solange;
Schmitt, Michèle;
Schwartz, Charles E.;
Hanauer, André

Publication type:

Article

Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 222, doi. 10.1002/(SICI)1098-1004(1998)11:3<222::AID-HUMU7>3.0.CO;2-J

By:

Du, Yang-Zhu;
Srivastava, Anand K.;
Schwartz, Charles E.

Publication type:

Article

Sleep Derivation and Performance of Residents.

Published in:

1989

By:

Schwartz, Charles E.

Publication type:

Letter

Letters.

Published in:

1994

By:

Mensah, George A.;
Cooper, Richard S.;
Liao, Youlian;
Terrin, Michael L.;
Knatterud, Genell;
Sack, Michael N.;
Hoeg, Jeffrey M.;
Moore, J.G.;
Schwartz, Charles E.;
Prod'hom, Guy;
Blum, Andre;
Fraacioli, Patrick;
Woolf, Fredric M.;
Irwig, Les;
Tosteson, Anna N.;
Gatsonis, Constantine;
Mok, C.C.;
Tam, S.C.F.;
Kwong, Y.L.

Publication type:

Letter

DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families.

Published in:

Behavioral & Brain Functions, 2012, v. 8, n. 1, p. 19, doi. 10.1186/1744-9081-8-19

By:

Hettinger, Joe A.;
Liu;
Hudson, Melissa L.;
Lee, Alana;
Cohen, Ira L.;
Michaelis, Ron C.;
Schwartz, Charles E.;
Lewis, Suzanne M. E.;
Holden, Jeanette J. A.

Publication type:

Article

Early Detection of Fragile X Syndrome: Applications of a Novel Approach for Improved Quantitative Methylation Analysis in Venous Blood and Newborn Blood Spots.

Published in:

Clinical Chemistry, 2014, v. 60, n. 7, p. 963, doi. 10.1373/clinchem.2013.217331

By:

Yoshimi Inaba;
Schwartz, Charles E.;
Bui, Quang M.;
Xin Li;
Skinner, Cindy;
Field, Michael;
Wotton, Tiffany;
Hagerman, Randi J.;
Francis, David;
Amor, David J.;
Hopper, John L.;
Loesch, Danuta Z.;
Bretherton, Lesley;
Slater, Howard R.;
Godler, David E.

Publication type:

Article

X-linked creatine transporter ( SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

Published in:

Human Genetics, 2006, v. 119, n. 6, p. 604, doi. 10.1007/s00439-006-0162-9

By:

Clark, Amy J.;
Rosenberg, Efraim H.;
Almeida, Ligia S.;
Wood, Tim C.;
Jakobs, Cornelis;
Stevenson, Roger E.;
Schwartz, Charles E.;
Salomons, Gajja S.

Publication type:

Article

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

Published in:

Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2

By:

Hagens, Olivier;
Dubos, Aline;
Abidi, Fatima;
Barbi, Gotthold;
Van Zutven, Laura;
Hoeltzenbein, Maria;
Tommerup, Niels;
Moraine, Claude;
Fryns, Jean-Pierre;
Chelly, Jamel;
van Bokhoven, Hans;
Gécz, Jozef;
Dollfus, Hélène;
Ropers, Hans-Hilger;
Schwartz, Charles E.;
de Cassia Stocco dos Santos, Rita;
Kalscheuer, Vera;
Hanauer, André

Publication type:

Article

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02462-8

By:

Chong Li;
Brazill, Jennifer M.;
Sha Liu;
Bello, Christofer;
Yi Zhu;
Morimoto, Marie;
Cascio, Lauren;
Pauly, Rini;
Diaz-Perez, Zoraida;
Malicdan, May Christine V.;
Hongbo Wang;
Boccuto, Luigi;
Schwartz, Charles E.;
Gahl, William A.;
Boerkoel, Cornelius F.;
Zhai, R. Grace

Publication type:

Article

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Published in:

Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01289-7

By:

Chong Li;
Brazill, Jennifer M.;
Sha Liu;
Bello, Christofer;
Yi Zhu;
Morimoto, Marie;
Cascio, Lauren;
Pauly, Rini;
Diaz-Perez, Zoraida;
Malicdan, May Christine V.;
Hongbo Wang;
Boccuto, Luigi;
Schwartz, Charles E.;
Gahl, William A.;
Boerkoel, Cornelius F.;
Zhai, R. Grace

Publication type:

Article

Schimke XLID syndrome results from a deletion in BCAP31.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2168, doi. 10.1002/ajmg.a.61755

By:

Louie, Raymond J.;
Collins, Debra L.;
Friez, Michael J.;
Skinner, Cindy;
Schwartz, Charles E.;
Stevenson, Roger E.

Publication type:

Article