Seema R Lalani

Seema R Lalani

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Seema R Lalani

Seema R Lalani

Publications by authors named "Seema R Lalani"

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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 Sep 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 Sep 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Neurol Genet 2019 Apr 18;5(2):e565. Epub 2019 Apr 18.

Department of Neurology (C.S., J.S., C.Z., J. Lu, J.X., S. Luo, J. Lin), Huashan Hospital, Fudan University, Shanghai, China; Baylor Genetic Laboratories (Y.J., Z.N., M.L.L., M.W., R.E.P., H.M., Y.Y.), Houston, TX; Department of Radiology (Y.L.), Huashan Hospital, Fudan University; Department of Pathology (Y.W., M.G.), Huashan Hospital, Fudan University, Shanghai, China; Department of Biochemistry and Molecular Pharmacology (M.L., K.D., Y.-M.H.), Thomas Jefferson University, Philadelphia, PA; Department of Human Genetics (S.N.O., A.A.), University of Michigan Medical School, Ann Arbor, MI; Department of Pediatrics and Department of Obstetrics and Gynecology (S.L.), University of Hawaii School of Medicine, Honolulu, HI; Department of Medical Oncology and Therapeutics Research (T.P.S.), Division of Clinical Cancer Genetics, City of Hope National Medical Center, Duarte, CA; Department of Molecular and Human Genetics (P.L.M., A.L.M., L.E., S.R.L., Z.N., M.L.L., J.A.R., M.W., R.E.P., H.M., J.A.R., Y.Y., V.W.Z.), Baylor College of Medicine, Houston, TX; and AmCare Genomics Lab (V.W.Z.), Guangzhou, China.

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http://dx.doi.org/10.1212/NXG.0000000000000316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515944PMC
April 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 Feb 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome.

J Pediatr 2018 11 29;202:206-211.e2. Epub 2018 Aug 29.

Section of Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Division of Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.07.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203622PMC
November 2018

Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child.

Eur J Med Genet 2018 Nov 3:103567. Epub 2018 Nov 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183020
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http://dx.doi.org/10.1016/j.ejmg.2018.11.001DOI Listing
November 2018

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.

Proc Natl Acad Sci U S A 2018 01 8;115(4):E620-E629. Epub 2018 Jan 8.

Molecular Genetics of Development Laboratory, Department of Biological Sciences, University of Quebec at Montreal, Montreal, QC H2X 3Y7, Canada;

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http://www.pnas.org/lookup/doi/10.1073/pnas.1715378115
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http://dx.doi.org/10.1073/pnas.1715378115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789929PMC
January 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Lung Transplantation for FLNA-Associated Progressive Lung Disease.

J Pediatr 2017 07 28;186:118-123.e6. Epub 2017 Apr 28.

Section of Pediatric Pulmonology, Department of Pediatrics, Baylor College of Medicine, Houston, TX. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.03.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5534178PMC
July 2017

Current Genetic Testing Tools in Neonatal Medicine.

Authors:
Seema R Lalani

Pediatr Neonatol 2017 04 28;58(2):111-121. Epub 2016 Sep 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pedneo.2016.07.002DOI Listing
April 2017

Chromosome 5q33 deletions associated with congenital heart defects.

Am J Med Genet A 2016 12 2;170(12):3338-3342. Epub 2016 Sep 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37957DOI Listing
December 2016

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

Philos Trans R Soc Lond B Biol Sci 2016 12;371(1710)

Department of Pediatrics and Medical and Molecular Genetics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA

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http://dx.doi.org/10.1098/rstb.2015.0406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5104505PMC
December 2016

Cytogenomic Aberrations in Congenital Cardiovascular Malformations.

Mol Syndromol 2016 May 26;7(2):51-61. Epub 2016 Apr 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex., USA.

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http://dx.doi.org/10.1159/000445788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906429PMC
May 2016

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

Am J Med Genet A 2015 Nov 21;167A(11):2742-7. Epub 2015 Jul 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639746PMC
November 2015

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.

Am J Med Genet A 2015 Nov 31;167A(11):2664-73. Epub 2015 Jul 31.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.

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http://dx.doi.org/10.1002/ajmg.a.37269DOI Listing
November 2015

Duplication of HEY2 in cardiac and neurologic development.

Am J Med Genet A 2015 Sep 1;167A(9):2145-9. Epub 2015 Apr 1.

Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1002/ajmg.a.37086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545384PMC
September 2015

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

Am J Med Genet A 2015 Apr 3;167A(4):914-8. Epub 2015 Mar 3.

Department of Medicine, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.36948DOI Listing
April 2015

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach.

J Cardiovasc Dev Dis 2015 Apr 29;2(2):76-92. Epub 2015 Apr 29.

Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.3390/jcdd2020076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753096PMC
April 2015

Aortopathy in the 7q11.23 microduplication syndrome.

Am J Med Genet A 2015 Feb 26;167A(2):363-70. Epub 2014 Nov 26.

Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Heart Institute, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.36859DOI Listing
February 2015

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

PLoS One 2014 15;9(1):e85600. Epub 2014 Jan 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America ; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085600PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893250PMC
December 2014

Genetic basis of congenital cardiovascular malformations.

Eur J Med Genet 2014 Aug 30;57(8):402-13. Epub 2014 Apr 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ejmg.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152939PMC
August 2014

Heterozygous deletion of exons 18 and 19 of IGF1R in an individual with short stature.

Clin Dysmorphol 2014 Jul;23(3):98-100

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000032DOI Listing
July 2014

An unusual cause of peroneal neuropathy.

Semin Pediatr Neurol 2014 Jun 13;21(2):77-81. Epub 2014 Apr 13.

Department of Neurology, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1016/j.spen.2014.04.006DOI Listing
June 2014

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

Am J Med Genet A 2011 Jun 12;155A(6):1442-7. Epub 2011 May 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.34015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646644PMC
June 2011

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.

Neurogenetics 2009 Oct 27;10(4):363-9. Epub 2009 May 27.

Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://link.springer.com/10.1007/s10048-009-0195-z
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http://dx.doi.org/10.1007/s10048-009-0195-zDOI Listing
October 2009

Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies.

Am J Med Genet A 2009 Mar;149A(3):515-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32667DOI Listing
March 2009

SNP genotyping to screen for a common deletion in CHARGE syndrome.

BMC Med Genet 2005 Feb 14;6. Epub 2005 Feb 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1186/1471-2350-6-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC550653PMC
February 2005

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.

Arch Neurol 2005 Feb;62(2):317-20

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1001/archneur.62.2.317DOI Listing
February 2005

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.

Am J Med Genet 2002 Sep;112(1):23-7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.10703DOI Listing
September 2002