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Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1451746
By:
- Mascho, Kira;
- Yatsenko, Svetlana A.;
- Lo, Cecilia W.;
- Xinxiu Xu;
- Johnson, Jennifer;
- Helvaty, Lindsey R.;
- Wechsler, Stephanie Burns;
- Murali, Chaya N.;
- Lalani, Seema R.;
- Garg, Vidu;
- Hodge, Jennelle C.;
- McBride, Kim L.;
- Ware, Stephanie M.;
- Jiuann-Huey Ivy Lin
Publication type:
Article
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1373, doi. 10.1093/brain/awac364
By:
- AlAbdi, Lama;
- Desbois, Muriel;
- Rusnac, Domniţa-Valeria;
- Sulaiman, Raashda A;
- Rosenfeld, Jill A;
- Lalani, Seema;
- Murdock, David R;
- Burrage, Lindsay C;
- Network, Undiagnosed Diseases;
- Au, Ping Yee Billie;
- Towner, Shelley;
- Wilson, William G;
- Wong, Lawrence;
- Brunet, Theresa;
- Strobl-Wildemann, Gertrud;
- Burton, Jennifer E;
- Hoganson, George;
- McWalter, Kirsty;
- Begtrup, Amber;
- Zarate, Yuri A
Publication type:
Article
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
Published in:
2022
By:
- Manor, Joshua;
- Calame, Daniel G.;
- Gijavanekar, Charul;
- Tran, Alyssa;
- Fatih, Jawid M.;
- Lalani, Seema R.;
- Mizerik, Elizabeth;
- Parnes, Mered;
- Mehta, Vidya P.;
- Adesina, Adekunle M.;
- Lupski, James R.;
- Scaglia, Fernando;
- Elsea, Sarah H.
Publication type:
Editorial
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Published in:
Human Genetics, 2024, v. 143, n. 3, p. 279, doi. 10.1007/s00439-024-02657-2
By:
- Brooks, Daniel;
- Burke, Elizabeth;
- Lee, Sukyeong;
- Eble, Tanya N.;
- O'Leary, Melanie;
- Osei-Owusu, Ikeoluwa;
- Rehm, Heidi L.;
- Dhar, Shweta U.;
- Emrick, Lisa;
- Bick, David;
- Nehrebecky, Michelle;
- Macnamara, Ellen;
- Casas-Alba, Dídac;
- Armstrong, Judith;
- Prat, Carolina;
- Martínez-Monseny, Antonio F.;
- Palau, Francesc;
- Liu, Pengfei;
- Adams, David;
- Lalani, Seema
Publication type:
Article
A novel CACNA1A variant in a child with early stroke and intractable epilepsy.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1383
By:
- Gudenkauf, Franciska J.;
- Azamian, Mahshid S.;
- Hunter, Jill V.;
- Nayak, Anuranjita;
- Lalani, Seema R.
Publication type:
Article
Other genomic disorders and congenital heart disease.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 107, doi. 10.1002/ajmg.c.31762
By:
- Lalani, Seema R.
Publication type:
Article
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63589
By:
- Gerard, Amanda;
- Mizerik, Elizabeth;
- Mohila, Carrie A.;
- AlAwami, Sarah;
- Hunter, Jill V.;
- Kearney, Debra L.;
- Lalani, Seema R.;
- Scaglia, Fernando
Publication type:
Article
Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2433, doi. 10.1002/ajmg.a.63331
By:
- Miyake, Christina Y.;
- Ehsan, Saad A.;
- Zhang, Lilei;
- Mackenzie, Samuel J.;
- Azamian, Mahshid S.;
- Scott, Daryl A.;
- Hernandez‐Garcia, Andres;
- Lalani, Seema R.
Publication type:
Article
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3184, doi. 10.1002/ajmg.a.62967
By:
- Kumar, Runjun D.;
- Meng, Linyan;
- Liu, Pengfei;
- Miyake, Christina Y.;
- Worley, Kim C.;
- Bi, Weimin;
- Lalani, Seema R.
Publication type:
Article
The germline p53 activation syndrome: A new patient further refines the clinical phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2204, doi. 10.1002/ajmg.a.62749
By:
- Kumar, Runjun D.;
- Tosur, Mustafa;
- Lalani, Seema R.;
- Mahoney, Donald H.;
- Bertuch, Alison A.
Publication type:
Article
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1868, doi. 10.1002/ajmg.a.62704
By:
- Magyar, Christina L.;
- Murdock, David R.;
- Burrage, Lindsay C.;
- Dai, Hongzheng;
- Lalani, Seema R.;
- Lewis, Richard A.;
- Lin, Yuezhen;
- Astudillo, Marcela F.;
- Rosenfeld, Jill A.;
- Tran, Alyssa A.;
- Gibson, James B.;
- Bacino, Carlos A.;
- Lee, Brendan H.;
- Chao, Hsiao‐Tuan
Publication type:
Article
LMOD2‐related dilated cardiomyopathy presenting in late infancy.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1858, doi. 10.1002/ajmg.a.62699
By:
- Lay, Erica;
- Azamian, Mahshid S.;
- Denfield, Susan W.;
- Dreyer, William;
- Spinner, Joseph A.;
- Kearney, Debra;
- Zhang, Lilei;
- Worley, Kim C.;
- Bi, Weimin;
- Lalani, Seema R.
Publication type:
Article
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2903, doi. 10.1002/ajmg.a.62368
By:
- Manor, Joshua;
- Dinu, Daniela;
- Azamian, Mahshid S.;
- Bi, Weimin;
- Darilek, Sandra;
- Lalani, Seema R.
Publication type:
Article
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 916, doi. 10.1002/ajmg.a.62036
By:
- Walters, Michelle E.;
- Lacassie, Yves;
- Azamian, Mahshid;
- Franciskovich, Rachel;
- Zapata, Gladys;
- Hernandez, Patricia P.;
- Liu, Pengfei;
- Campbell, Ian M.;
- Bostwick, Bret L.;
- Lalani, Seema R.
Publication type:
Article
Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2751, doi. 10.1002/ajmg.a.61842
By:
- Slater, Brady;
- Glinton, Kevin;
- Dai, Hongzheng;
- Lay, Erica;
- Karaviti, Lefkothea;
- Mizerik, Elizabeth;
- Murali, Chaya N.;
- Lalani, Seema R.;
- Bacino, Carlos A.;
- Rossetti, Linda Z.
Publication type:
Article
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1960, doi. 10.1002/ajmg.a.61634
By:
- Gibson, Shelley;
- Azamian, Mahshid S.;
- Lalani, Seema R.;
- Yen, Kimberly G.;
- Sutton, V. Reid;
- Scott, Daryl A.
Publication type:
Article
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2459, doi. 10.1002/ajmg.a.61357
By:
- Pillai, Nishitha R.;
- Yubero, Delia;
- Shayota, Brian J.;
- Oyarzábal, Alfonso;
- Ghosh, Rajarshi;
- Sun, Qin;
- Azamian, Mahshid S.;
- Arjona, Cesar;
- Brandi, Núria;
- Palau, Francesc;
- Lalani, Seema R.;
- Artuch, Rafael;
- García‐Cazorla, Angeles;
- Scott, Daryl A.
Publication type:
Article
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1376, doi. 10.1002/ajmg.a.61182
By:
- Rossetti, Linda Z.;
- Glinton, Kevin;
- Yuan, Bo;
- Liu, Pengfei;
- Pillai, Nishitha;
- Mizerik, Elizabeth;
- Magoulas, Pilar;
- Rosenfeld, Jill A.;
- Karaviti, Lefkothea;
- Sutton, Vernon R.;
- Lalani, Seema R.;
- Scott, Daryl A.
Publication type:
Article
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2176, doi. 10.1002/ajmg.a.38309
By:
- Hanchard, Neil A.;
- Umana, Luis A.;
- D'Alessandro, Lisa;
- Azamian, Mahshid;
- Poopola, Mojisola;
- Morris, Shaine A.;
- Fernbach, Susan;
- Lalani, Seema R.;
- Towbin, Jeffrey A.;
- Zender, Gloria A.;
- Fitzgerald‐Butt, Sara;
- Garg, Vidu;
- Bowman, Jessica;
- Zapata, Gladys;
- Hernandez, Patricia;
- Arrington, Cammon B.;
- Furthner, Dieter;
- Prakash, Siddharth K.;
- Bowles, Neil E.;
- McBride, Kim L.
Publication type:
Article
Chromosome 5q33 Deletions Associated with Congenital Heart Defects.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3338, doi. 10.1002/ajmg.a.37957
By:
- Starkovich, Molly;
- Lalani, Seema R.;
- Mercer, Catherine L.;
- Scott, Daryl A.
Publication type:
Article
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2206, doi. 10.1002/ajmg.a.37780
By:
- Leduc, Magalie S.;
- Niu, Zhiyv;
- Bi, Weimin;
- Zhu, Wenmiao;
- Miloslavskaya, Irene;
- Chiang, Theodore;
- Streff, Haley;
- Seavitt, John R.;
- Murray, Stephen A.;
- Eng, Christine;
- Chan, Audrey;
- Yang, Yaping;
- Lalani, Seema R.
Publication type:
Article
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2664, doi. 10.1002/ajmg.a.37269
By:
- Riley, Kacie N.;
- Catalano, Lisa M.;
- Bernat, John A.;
- Adams, Stacie D.;
- Martin, Donna M.;
- Lalani, Seema R.;
- Patel, Ankita;
- Burnside, Rachel D.;
- Innis, Jeffrey W.;
- Rudd, M. Katharine
Publication type:
Article
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2742, doi. 10.1002/ajmg.a.37230
By:
- Harel, Tamar;
- Posey, Jennifer E.;
- Graham, Brett H.;
- Walkiewicz, Magdalena;
- Yang, Yaping;
- Lalani, Seema R.;
- Belmont, John W.
Publication type:
Article
Duplication of HEY2 in cardiac and neurologic development.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2145, doi. 10.1002/ajmg.a.37086
By:
- Jordan, Valerie K.;
- Rosenfeld, Jill A.;
- Lalani, Seema R.;
- Scott, Daryl A.
Publication type:
Article
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 914, doi. 10.1002/ajmg.a.36948
By:
- Sarkar, Arindam;
- Emrick, Lisa T.;
- Smith, Eboni M.;
- Austin, Elise G.;
- Yang, Yaping;
- Hunter, Jill V.;
- Scaglia, Fernando;
- Lalani, Seema R.
Publication type:
Article
Aortopathy in the 7q11.23 microduplication syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 363, doi. 10.1002/ajmg.a.36859
By:
- Parrott, Ashley;
- James, Jeanne;
- Goldenberg, Paula;
- Hinton, Robert B.;
- Miller, Erin;
- Shikany, Amy;
- Aylsworth, Arthur S.;
- Kaiser‐Rogers, Kathleen;
- Ferns, Sunita J.;
- Lalani, Seema R.;
- Ware, Stephanie M.
Publication type:
Article
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1785, doi. 10.1002/ajmg.a.35391
By:
- Hernández-García, Andrés;
- Brosens, Erwin;
- Zaveri, Hitisha P.;
- de Jong, Elisabeth M.;
- Yu, Zhiyin;
- Namwanje, Maria;
- Mayle, Allison;
- Fernandes, Caraciolo J.;
- Lee, Brendan;
- Blazo, Maria;
- Lalani, Seema R.;
- Tibboel, Dick;
- de Klein, Annelies;
- Scott, Daryl A.
Publication type:
Article
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Published in:
Nature Genetics, 2008, v. 40, n. 12, p. 1466, doi. 10.1038/ng.279
By:
- Brunetti-Pierri, Nicola;
- Berg, Jonathan S.;
- Scaglia, Fernando;
- Belmont, John;
- Bacino, Carlos A.;
- Sahoo, Trilochan;
- Lalani, Seema R.;
- Graham, Brett;
- Lee, Brendan;
- Shinawi, Marwan;
- Shen, Joseph;
- Kang, Sung-Hae L.;
- Pursley, Amber;
- Lotze, Timothy;
- Kennedy, Gail;
- Lansky-Shafer, Susan;
- Weaver, Christine;
- Roeder, Elizabeth R.;
- Grebe, Theresa A.;
- Arnold, Georgianne L.
Publication type:
Article
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
Published in:
2016
By:
- Gkourogianni, Alexandra;
- Andrew, Melissa;
- Tyzinski, Leah;
- Crocker, Melissa;
- Douglas, Jessica;
- Dunbar, Nancy;
- Fairchild, Jan;
- Funari, Mariana F A;
- Heath, Karen E;
- Jorge, Alexander A L;
- Kurtzman, Tracey;
- LaFranchi, Stephen;
- Lalani, Seema;
- Lebl, Jan;
- Lin, Yuezhen;
- Los, Evan;
- Newbern, Dorothee;
- Nowak, Catherine;
- Olson, Micah;
- Popovic, Jadranka
Publication type:
journal 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
Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36.
Published in:
PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085600
By:
- Zaveri, Hitisha P.;
- Beck, Tyler F.;
- Hernández-García, Andrés;
- Shelly, Katharine E.;
- Montgomery, Tara;
- van Haeringen, Arie;
- Anderlid, Britt-Marie;
- Patel, Chirag;
- Goel, Himanshu;
- Houge, Gunnar;
- Morrow, Bernice E.;
- Cheung, Sau Wai;
- Lalani, Seema R.;
- Scott, Daryl A.
Publication type:
Article
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 377, doi. 10.1007/s00439-017-1763-1
By:
- Zhang, Jing;
- Gambin, Tomasz;
- Yuan, Bo;
- Roeder, Elizabeth;
- Bonneau, Dominique;
- Denommé-Pichon, Anne-Sophie;
- Zhu, Wenmiao;
- He, Weimin;
- Vetrini, Francesco;
- Ward, Patricia;
- Cheung, Sau;
- Bi, Weimin;
- Eng, Christine;
- Lupski, James;
- Yang, Yaping;
- Patel, Ankita;
- Lalani, Seema;
- Xia, Fan;
- Stankiewicz, Paweł;
- Szafranski, Przemyslaw
Publication type:
Article
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 2, p. 173, doi. 10.1038/ejhg.2014.75
By:
- Szafranski, Przemyslaw;
- Von Allmen, Gretchen K;
- Graham, Brett H;
- Wilfong, Angus A;
- Kang, Sung-Hae L;
- Ferreira, Jose A;
- Upton, Sheila J;
- Moeschler, John B;
- Bi, Weimin;
- Rosenfeld, Jill A;
- Shaffer, Lisa G;
- Wai Cheung, Sau;
- Stankiewicz, Paweł;
- Lalani, Seema R
Publication type:
Article
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 8, p. 969, doi. 10.1038/ejhg.2013.285
By:
- Pham, Justin;
- Shaw, Chad;
- Pursley, Amber;
- Hixson, Patricia;
- Sampath, Srirangan;
- Roney, Erin;
- Gambin, Tomasz;
- Kang, Sung-Hae L;
- Bi, Weimin;
- Lalani, Seema;
- Bacino, Carlos;
- Lupski, James R;
- Stankiewicz, Pawel;
- Patel, Ankita;
- Cheung, Sau-Wai
Publication type:
Article
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
By:
- Wiszniewska, Joanna;
- Bi, Weimin;
- Shaw, Chad;
- Stankiewicz, Pawel;
- Kang, Sung-Hae L;
- Pursley, Amber N;
- Lalani, Seema;
- Hixson, Patricia;
- Gambin, Tomasz;
- Tsai, Chun-hui;
- Bock, Hans-Georg;
- Descartes, Maria;
- Probst, Frank J;
- Scaglia, Fernando;
- Beaudet, Arthur L;
- Lupski, James R;
- Eng, Christine;
- Wai Cheung, Sau;
- Bacino, Carlos;
- Patel, Ankita
Publication type:
Article
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 2, p. 173, doi. 10.1038/ejhg.2012.155
By:
- Lalani, Seema R;
- Shaw, Chad;
- Wang, Xueqing;
- Patel, Ankita;
- Patterson, Lance W;
- Kolodziejska, Katarzyna;
- Szafranski, Przemyslaw;
- Ou, Zhishuo;
- Tian, Qi;
- Kang, Sung-Hae L;
- Jinnah, Amina;
- Ali, Sophia;
- Malik, Aamir;
- Hixson, Patricia;
- Potocki, Lorraine;
- Lupski, James R;
- Stankiewicz, Pawel;
- Bacino, Carlos A;
- Dawson, Brian;
- Beaudet, Arthur L
Publication type:
Article
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 176, doi. 10.1038/ejhg.2011.171
By:
- Nagamani, Sandesh C Sreenath;
- Erez, Ayelet;
- Bay, Carolyn;
- Pettigrew, Anjana;
- Lalani, Seema R;
- Herman, Kristin;
- Graham, Brett H;
- Nowaczyk, Malgorzata JM;
- Proud, Monica;
- Craigen, William J;
- Hopkins, Bobbi;
- Kozel, Beth;
- Plunkett, Katie;
- Hixson, Patricia;
- Stankiewicz, Pawel;
- Patel, Ankita;
- Cheung, Sau Wai
Publication type:
Article
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184
By:
- Nagamani, Sandesh C. Sreenath;
- Erez, Ayelet;
- Bader, Patricia;
- Lalani, Seema R.;
- Scott, Daryl A.;
- Scaglia, Fernando;
- Plon, Sharon E.;
- Chun-Hui Tsai;
- Reimschisel, Tyler;
- Roeder, Elizabeth;
- Malphrus, Amy D.;
- Eng, Patricia A.;
- Hixson, Patricia M.;
- Kang, Sung-Hae L.;
- Stankiewicz, Pawel;
- Patel, Ankita;
- Sau Wai Cheung
Publication type:
Article
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1133, doi. 10.1038/ejhg.2010.59
By:
- Parri, Veronica;
- Katzaki, Eleni;
- Uliana, Vera;
- Scionti, Francesca;
- Tita, Rossella;
- Artuso, Rosangela;
- Longo, Ilaria;
- Boschloo, Renske;
- Vijzelaar, Raymon;
- Selicorni, Angelo;
- Brancati, Francesco;
- Dallapiccola, Bruno;
- Zelante, Leopoldo;
- Hamel, Christian P.;
- Sarda, Pierre;
- Lalani, Seema R.;
- Grasso, Rita;
- Buoni, Sabrina;
- Hayek, Joussef;
- Servais, Laurent
Publication type:
Article
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 3, p. 278, doi. 10.1038/ejhg.2009.174
By:
- Nagamani, Sandesh Chakravarthy Sreenath;
- Erez, Ayelet;
- Shen, Joseph;
- Chumei Li;
- Roeder, Elizabeth;
- Cox, Sarah;
- Karaviti, Lefkothea;
- Pearson, Margret;
- Kang, Sung-Hae L.;
- Sahoo, Trilochan;
- Lalani, Seema R.;
- Stankiewicz, Pawel;
- Sutton, V. Reid;
- Sau Wai Cheung
Publication type:
Article
Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 6, p. 959, doi. 10.1093/hmg/ddac252
By:
- Xu, Weiyi;
- Graves, Andrea;
- Weisz-Hubshman, Monika;
- Hegazy, Lamees;
- Magyar, Christina;
- Liu, Zian;
- Nasiotis, Eleni;
- Samee, Md Abul Hassan;
- Burris, Thomas;
- Lalani, Seema;
- Zhang, Lilei
Publication type:
Article
SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.
Published in:
Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r91
By:
- Tariq, Muhammad;
- Belmont, John W.;
- Lalani, Seema;
- Smolarek, Teresa;
- Ware, Stephanie M.
Publication type:
Article
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 95, doi. 10.1111/cge.14522
By:
- Parobek, Christian M.;
- Zemet, Roni;
- Shanahan, Matthew A.;
- Burnett, Brian A.;
- Mizerik, Elizabeth;
- Rosenfeld, Jill A.;
- Vossaert, Liesbeth;
- Clark, Steven L.;
- Hunter, Jill V.;
- Lalani, Seema R.
Publication type:
Article
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 227, doi. 10.1111/cge.13979
By:
- Panneerselvam, Sugi;
- Wang, Julia;
- Zhu, Wenmiao;
- Dai, Hongzheng;
- Pappas, John G.;
- Rabin, Rachel;
- Low, Karen J.;
- Rosenfeld, Jill A.;
- Emrick, Lisa;
- Xiao, Rui;
- Xia, Fan;
- Yang, Yaping;
- Eng, Christine M.;
- Anderson, Anne;
- Chau, Vann;
- Soler‐Alfonso, Claudia;
- Streff, Haley;
- Lalani, Seema R.;
- Mercimek‐Andrews, Saadet;
- Bi, Weimin
Publication type:
Article
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 634, doi. 10.1111/cge.13515
By:
- Truong, Brittany T.;
- Yarza, Talitha K.L.;
- Bootpetch Roberts, Tori;
- Roberts, Susannah;
- Xu, Jonathan;
- Steritz, Matthew J.;
- Tobias‐Grasso, Celina A.M.;
- Azamian, Mahshid;
- Lalani, Seema R.;
- Mohlke, Karen L.;
- Lee, Nanette R.;
- Cutiongco‐de la Paz, Eva Maria;
- Reyes‐Quintos, Maria Rina T.;
- Santos‐Cortez, Regie Lyn P.;
- Chiong, Charlotte M.
Publication type:
Article
B‐complex vitamins for patients with TANGO2‐deficiency disorder.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 161, doi. 10.1002/jimd.12585
By:
- Sandkuhler, Sarah E.;
- Zhang, Lilei;
- Meisner, Joshua K.;
- Ghaloul‐Gonzalez, Lina;
- Beach, Cheyenne M.;
- Harris, David;
- de Lonlay, Pascale;
- Lalani, Seema R.;
- Miyake, Christina Y.;
- Mackenzie, Samuel J.
Publication type:
Article
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
Published in:
Journal of the American Heart Association, 2023, v. 12, n. 18, p. 1, doi. 10.1161/JAHA.123.029340
By:
- Landis, Benjamin J.;
- Helvaty, Lindsey R.;
- Geddes, Gabrielle C.;
- Lin, Jiuann-Huey Ivy;
- Yatsenko, Svetlana A.;
- Lo, Cecilia W.;
- Border, William L.;
- Wechsler, Stephanie Burns;
- Murali, Chaya N.;
- Azamian, Mahshid S.;
- Lalani, Seema R.;
- Hinton, Robert B.;
- Garg, Vidu;
- McBride, Kim L.;
- Hodge, Jennelle C.;
- Ware, Stephanie M.
Publication type:
Article
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 21, p. 4339, doi. 10.1093/hmg/ddt283
By:
- Lalani, Seema R.;
- Ware, Stephanie M.;
- Wang, Xueqing;
- Zapata, Gladys;
- Tian, Qi;
- Franco, Luis M.;
- Jiang, Zhengxin;
- Bucasas, Kristine;
- Scott, Daryl A.;
- Campeau, Philippe M.;
- Hanchard, Neil;
- Umaña, Luis;
- Cast, Ashley;
- Patel, Ankita;
- Cheung, Sau W.;
- McBride, Kim L.;
- Bray, Molly;
- Craig Chinault, A.;
- Boggs, Barbara A.;
- Huang, Miao
Publication type:
Article
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1442, doi. 10.1002/ajmg.a.34015
By:
- Campbell, Ian M.;
- Kolodziejska, Katarzyna E.;
- Quach, Michael M.;
- Wolf, Varina Louise;
- Cheung, Sau Wai;
- Lalani, Seema R.;
- Ramocki, Melissa B.;
- Stankiewicz, Pawel
Publication type:
Article
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
Published in:
2020
By:
- Kennedy, Adam D.;
- Pappan, Kirk L.;
- Donti, Taraka;
- Delgado, Mauricio R.;
- Shinawi, Marwan;
- Pearson, Toni S.;
- Lalani, Seema R.;
- Craigen, William J.;
- Sutton, V. Reid;
- Evans, Anne M.;
- Sun, Qin;
- Emrick, Lisa T.;
- Elsea, Sarah H.
Publication type:
Correction Notice

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