Publications by authors named "Seema R Lalani"

96Publications

A novel CACNA1A variant in a child with early stroke and intractable epilepsy.

Mol Genet Genomic Med 2020 Jul 21:e1383. Epub 2020 Jul 21.

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

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http://dx.doi.org/10.1002/mgg3.1383DOI Listing
July 2020

An Analysis of Hospital Mortality After Cardiac Operations in Children With Down Syndrome.

Semin Thorac Cardiovasc Surg 2020 Jul 2. Epub 2020 Jul 2.

Lillie Frank Abercrombie Section of Cardiology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.

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http://dx.doi.org/10.1053/j.semtcvs.2020.06.037DOI Listing
July 2020

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.

Am J Med Genet A 2020 May 25. Epub 2020 May 25.

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

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http://dx.doi.org/10.1002/ajmg.a.61634DOI Listing
May 2020

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.

Genet Med 2020 Aug 27;22(8):1303-1310. Epub 2020 Apr 27.

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

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http://dx.doi.org/10.1038/s41436-020-0798-1DOI Listing
August 2020

Other genomic disorders and congenital heart disease.

Authors:
Seema R Lalani

Am J Med Genet C Semin Med Genet 2020 03 7;184(1):107-115. Epub 2020 Jan 7.

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

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http://dx.doi.org/10.1002/ajmg.c.31762DOI Listing
March 2020

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.

Eur J Hum Genet 2020 May 5;28(5):674-678. Epub 2019 Dec 5.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/s41431-019-0552-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171094PMC
May 2020

Digital necrosis in an infant with severe spinal muscular atrophy.

Neurol Genet 2019 Oct 23;5(5):e361. Epub 2019 Sep 23.

Department of Molecular and Human Genetics (D.C., P.M., J.C.S., S.R.L., M.F.W.), Baylor College of Medicine, Houston, TX; Texas Children's Hospital (P.M., S.R.L., M.F.W.), Houston, TX; Baylor Genetics (J.C.S.), Houston, TX; Section of Palliative Medicine (J.A.J.), Department of Pediatrics, Baylor College of Medicine, Houston TX; and Jan and Dan Duncan Neurological Research Institute (M.F.W.), Texas Children's Hospital, Houston, TX.

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http://dx.doi.org/10.1212/NXG.0000000000000361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6807655PMC
October 2019

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

Sci Adv 2019 09 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

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

Am J Hum Genet 2019 09 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

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 02 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

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 2019 Nov 3;62(11):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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237049PMC
November 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

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

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

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

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

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

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

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

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

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

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

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

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

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
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
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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

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

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

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