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Clear Cell Sarcoma of the Kidney in a Child with Fanconi Anemia.
Published in:
2014
By:
- TREJO BITTAR, HUMBERTO E.;
- RADDER, JOSIAH E.;
- RANGANATHAN, SARANGARAJAN;
- SRINIVASAN, ABHAY;
- MADAN-KHETARPAL, SUNEETA;
- REYES-MUGICA, MIGUEL
Publication type:
Case Study
Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1647
By:
- Liao, Jun;
- Coffman, Keith A.;
- Locker, Joseph;
- Padiath, Quasar S.;
- Nmezi, Bruce;
- Filipink, Robyn A.;
- Hu, Jie;
- Sathanoori, Malini;
- Madan‐Khetarpal, Suneeta;
- McGuire, Marianne;
- Schreiber, Allison;
- Moran, Rocio;
- Friedman, Neil;
- Hoffner, Lori;
- Rajkovic, Aleksandar;
- Yatsenko, Svetlana A.;
- Surti, Urvashi
Publication type:
Article
A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 970, doi. 10.1002/ajmg.a.62590
By:
- Gurunathan, Sharavana;
- Sebastian, Jessica;
- Baker, Jennifer;
- Abdel‐Hamid, Hoda Z.;
- West, Shawn C.;
- Feingold, Brian;
- Peche, Vivek;
- Reyes‐Múgica, Miguel;
- Madan‐Khetarpal, Suneeta;
- Field, Jeffrey
Publication type:
Article
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1426, doi. 10.1002/ajmg.a.61580
By:
- Rech, Megan E.;
- McCarthy, John M.;
- Chen, Chun‐An;
- Edmond, Jane C.;
- Shah, Veeral S.;
- Bosch, Daniëlle G. M.;
- Berry, Gerard T.;
- Williams, Linford;
- Madan‐Khetarpal, Suneeta;
- Niyazov, Dmitriy;
- Shaw‐Smith, Charles;
- Kovar, Erin M.;
- Lupo, Philip J.;
- Schaaf, Christian P.
Publication type:
Article
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 813, doi. 10.1002/ajmg.a.61482
By:
- Hu, Jie;
- Ou, Zhishuo;
- Surti, Urvashi;
- Kochmar, Sally;
- Hoffner, Lori;
- Madan‐Khetarpal, Suneeta;
- Arnold, Georgianne L.;
- Walsh, Leslie;
- Acquaro, Roxanne;
- Sebastian, Jessica;
- Yatsenko, Svetlana A.
Publication type:
Article
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 187, doi. 10.1002/ajmg.a.38538
By:
- Yilmaz, Rüstem;
- Szakszon, Katalin;
- Altmann, Anna;
- Altunoglu, Umut;
- Senturk, Leyli;
- McGuire, Marianne;
- Calabrese, Olga;
- Madan‐Khetarpal, Suneeta;
- Basel‐Vanagaite, Lina;
- Borck, Guntram
Publication type:
Article
6q25.1 ( TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1848, doi. 10.1002/ajmg.a.38254
By:
- Cheng, Andrew;
- Dinulos, Mary Beth P.;
- Neufeld‐Kaiser, Whitney;
- Rosenfeld, Jill;
- Kyriss, McKenna;
- Madan‐Khetarpal, Suneeta;
- Risheg, Hiba;
- Byers, Peter H.;
- Liu, Yajuan J.
Publication type:
Article
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 221, doi. 10.1002/ajmg.a.37981
By:
- Tas, Emir;
- Sebastian, Jessica;
- Madan‐Khetarpal, Suneeta;
- Sweet, Philip;
- Yatsenko, Alexander N.;
- Pollock, Nijole;
- Rajkovic, Aleksandar;
- Schneck, Francis X.;
- Yatsenko, Svetlana A.;
- Witchel, Selma Feldman
Publication type:
Article
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2188, doi. 10.1002/ajmg.a.37133
By:
- Li, You;
- Garrod, Andrea S.;
- Madan‐Khetarpal, Suneeta;
- Sreedher, Gayathri;
- McGuire, Marianne;
- Yagi, Hisato;
- Klena, Nikolai T.;
- Gabriel, George C.;
- Khalifa, Omar;
- Zahid, Maliha;
- Panigrahy, Ashok;
- Weiner, Daniel J.;
- Lo, Cecilia W.
Publication type:
Article
A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1921, doi. 10.1002/ajmg.a.37110
By:
- Hu, Jie;
- Sathanoori, Malini;
- Kochmar, Sally;
- Azage, Meron;
- Mann, Susan;
- Madan‐Khetarpal, Suneeta;
- Goldstein, Amy;
- Surti, Urvashi
Publication type:
Article
Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1047, doi. 10.1002/ajmg.a.36839
By:
- Beck, Megan;
- Peterson, Jess F.;
- McConnell, Juliann;
- McGuire, Marianne;
- Asato, Miya;
- Losee, Joseph E.;
- Surti, Urvashi;
- Madan‐Khetarpal, Suneeta;
- Rajkovic, Aleksandar;
- Yatsenko, Svetlana A.
Publication type:
Article
Familial microduplication of 17q23.1-q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 364, doi. 10.1002/ajmg.a.36238
By:
- Peterson, Jess F.;
- Ghaloul‐Gonzalez, Lina;
- Madan‐Khetarpal, Suneeta;
- Hartman, Jessica;
- Surti, Urvashi;
- Rajkovic, Aleksandar;
- Yatsenko, Svetlana A.
Publication type:
Article
Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 179, doi. 10.1002/ajmg.a.35658
By:
- Hu, Jie;
- Sathanoori, Malini;
- Kochmar, Sally;
- Madan‐Khetarpal, Suneeta;
- McGuire, Marianne;
- Surti, Urvashi
Publication type:
Article
A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2795, doi. 10.1002/ajmg.a.34237
By:
- Liao, Jun;
- DeWard, Stephanie J.;
- Madan-Khetarpal, Suneeta;
- Surti, Urvashi;
- Hu, Jie
Publication type:
Article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.
Published in:
Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107
By:
- Ballif, Blake C.;
- Hornor, Sara A.;
- Jenkins, Elizabeth;
- Madan-Khetarpal, Suneeta;
- Surti, Urvashi;
- Jackson, Kelly E.;
- Asamoah, Alexander;
- Brock, Pamela L.;
- Gowans, Gordon C.;
- Conway, Robert L.;
- Graham Jr., John M.;
- Medne, Livija;
- Zackai, Elaine H.;
- Shaikh, Tamim H.;
- Geoghegan, Joel;
- Selzer, Rebecca R.;
- Eis, Peggy S.;
- Bejjani, Bassem A.;
- Shaffer, Lisa G.
Publication type:
Article
Array CGH as a first-tier test for neonates with congenital heart disease.
Published in:
2015
By:
- Bachman, Kristine K.;
- DeWard, Stephanie J.;
- Chrysostomou, Constantinos;
- Munoz, Ricardo;
- Madan-Khetarpal, Suneeta
Publication type:
journal article
De novo apparent loss-of-function mutations in <italic>PRR12</italic> in three patients with intellectual disability and iris abnormalities.
Published in:
Human Genetics, 2018, v. 137, n. 3, p. 257, doi. 10.1007/s00439-018-1877-0
By:
- Leduc, Magalie S.;
- Mcguire, Marianne;
- Madan-Khetarpal, Suneeta;
- Ortiz, Damara;
- Hayflick, Susan;
- Keller, Kory;
- Eng, Christine M.;
- Yang, Yaping;
- Bi, Weimin
Publication type:
Article
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Published in:
Human Genetics, 2016, v. 135, n. 5, p. 569, doi. 10.1007/s00439-016-1655-9
By:
- Szafranski, Przemyslaw;
- Gambin, Tomasz;
- Dharmadhikari, Avinash;
- Akdemir, Kadir;
- Jhangiani, Shalini;
- Schuette, Jennifer;
- Godiwala, Nihal;
- Yatsenko, Svetlana;
- Sebastian, Jessica;
- Madan-Khetarpal, Suneeta;
- Surti, Urvashi;
- Abellar, Rosanna;
- Bateman, David;
- Wilson, Ashley;
- Markham, Melinda;
- Slamon, Jill;
- Santos-Simarro, Fernando;
- Palomares, María;
- Nevado, Julián;
- Lapunzina, Pablo
Publication type:
Article
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51922-2
By:
- Ghaloul-Gonzalez, Lina;
- Mohsen, Al-Walid;
- Karunanidhi, Anuradha;
- Seminotti, Bianca;
- Chong, Hey;
- Madan-Khetarpal, Suneeta;
- Sebastian, Jessica;
- Vockley, Catherine Walsh;
- Reyes-Múgica, Miguel;
- Vander Lugt, Mark T.;
- Vockley, Jerry
Publication type:
Article
Congenital Disorder of Glycosylation in a Child with Macrosomia.
Published in:
Clinical Chemistry, 2023, v. 69, n. 12, p. 1432, doi. 10.1093/clinchem/hvad166
By:
- Madan-Khetarpal, Suneeta;
- Maio He;
- Wongkittichote, Parith;
- Dobrowolski, Steven F.
Publication type:
Article
Copy number alterations involving 59 ACMG‐recommended secondary findings genes.
Published in:
Clinical Genetics, 2020, v. 98, n. 6, p. 577, doi. 10.1111/cge.13852
By:
- Yatsenko, Svetlana A.;
- Aarabi, Mahmoud;
- Hu, Jie;
- Surti, Urvashi;
- Ortiz, Damara;
- Madan‐Khetarpal, Suneeta;
- Saller, Devereux N.;
- Bellissimo, Daniel;
- Rajkovic, Aleksandar
Publication type:
Article
Biomechanical Properties of the Skin in Cutis Laxa.
Published in:
Journal of Investigative Dermatology, 2014, v. 134, n. 11, p. 2836, doi. 10.1038/jid.2014.224
By:
- Kozel, Beth A;
- Su, Chi-Ting;
- Danback, Joshua R;
- Minster, Ryan L;
- Madan-Khetarpal, Suneeta;
- McConnell, Juliann S;
- Mac Neal, Meghan K;
- Levine, Kara L;
- Wilson, Robert C;
- Sciurba, Frank C;
- Urban, Zsolt
Publication type:
Article
Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 14, p. 4024, doi. 10.1093/hmg/ddv139
By:
- Chi-Ting Su;
- Jenq-Wen Huang;
- Chih-Kang Chiang;
- Lawrence, Elizabeth C.;
- Levine, Kara L.;
- Dabovic, Branka;
- Jung, Christine;
- Davis, Elaine C.;
- Madan-Khetarpal, Suneeta;
- Urban, Zsolt
Publication type:
Article
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
Published in:
2017
By:
- Jie Hu;
- Zhishuo Ou;
- Infante, Elena;
- Kochmar, Sally J.;
- Madan-Khetarpal, Suneeta;
- Hoffner, Lori;
- Parsazad, Shafagh;
- Surti, Urvashi
Publication type:
Case Study
RASopathy in Patients With Isolated Sagittal Synostosis.
Published in:
Global Pediatric Health, 2019, v. 6, p. 1, doi. 10.1177/2333794X19846774
By:
- Davis, Amani Ali;
- Zuccoli, Giulio;
- Haredy, Mostafa M.;
- Losee, Joseph;
- Pollack, Ian F.;
- Madan-Khetarpal, Suneeta;
- Goldstein, Jesse A.;
- Nischal, Ken K.
Publication type:
Article
RASopathy in Patients With Isolated Sagittal Synostosis.
Published in:
Global Pediatric Health, 2019, v. 6, p. N.PAG, doi. 10.1177/2333794X19846774
By:
- Davis, Amani Ali;
- Zuccoli, Giulio;
- Haredy, Mostafa M.;
- Losee, Joseph;
- Pollack, Ian F.;
- Madan-Khetarpal, Suneeta;
- Goldstein, Jesse A.;
- Nischal, Ken K.
Publication type:
Article
Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay,Mental Retardation, and Dysmorphic Features.
Published in:
Genetics Research International, 2011, p. 1, doi. 10.4061/2011/185271
By:
- Jie Hu;
- Madan-Khetarpal, Suneeta;
- Russi, Alvaro H. Serrano;
- Kochmar, Sally;
- DeWard, Stephanie J.;
- Sathanoori, Malini;
- Surti, Urvashi
Publication type:
Article
Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1996, doi. 10.1002/ajmg.a.34106
By:
- Cajaiba, Mariana M.;
- Witchel, Selma;
- Madan-Khetarpal, Suneeta;
- Hoover, Jaqueline;
- Hoffner, Lori;
- Macpherson, Trevor;
- Surti, Urvashi
Publication type:
Article
Response to Drs. Stöllberger and Finsterer 'Noncompaction Is Already Known in DiGeorge Anomaly From 22q11.2 Deletion Syndrome'.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 664, doi. 10.1002/ajmg.a.33704
By:
- Madan, Shobhit;
- Madan-Khetarpal, Suneeta;
- Park, Sang C.;
- Surti, Urvashi;
- Bailey, Ariel L.;
- McConnell, Juliann;
- Tadros, Sameh S.
Publication type:
Article
Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2094, doi. 10.1002/humu.24118
By:
- Montenegro‐Garreaud, Ximena;
- Hansen, Adam W.;
- Khayat, Michael M.;
- Chander, Varuna;
- Grochowski, Christopher M.;
- Jiang, Yunyun;
- Li, He;
- Mitani, Tadahiro;
- Kessler, Elena;
- Jayaseelan, Joy;
- Shen, Hua;
- Gezdirici, Alper;
- Pehlivan, Davut;
- Meng, Qingchang;
- Rosenfeld, Jill A.;
- Jhangiani, Shalini N.;
- Madan‐Khetarpal, Suneeta;
- Scott, Daryl A.;
- Abarca‐Barriga, Hugo;
- Trubnykova, Milana
Publication type:
Article

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