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Genetics

D-Index
59
Citations
12207
World Ranking
3248
National Ranking
1413

Overview

Seema R. Lalani is affiliated with Baylor College of Medicine in the United States. Their research primarily spans the fields of biochemistry, genetics, and molecular biology, with significant publications also in medicine. The main subfields of study include molecular biology, genetics, cardiology and cardiovascular medicine, clinical biochemistry, and epidemiology.

The scientist's work addresses key topics such as genomics and rare diseases, genetics and neurodevelopmental disorders, congenital heart defects research, metabolism and genetic disorders, mitochondrial function and pathology, genomic variations and chromosomal abnormalities, and RNA modifications and cancer.

Recent notable publications include:

  • Overgrowth Syndromes-Evaluation, Diagnosis, and Management (2020, Frontiers in Pediatrics)
  • Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021, Genetics in Medicine)
  • An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (2020, Genetics in Medicine)
  • Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH (2021, Journal of Medical Genetics)
  • Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science (2020, Genetics in Medicine)

Seema R. Lalani frequently publishes in a variety of venues that include:

  • Genetics in Medicine
  • American Journal of Medical Genetics Part A
  • Genetics in Medicine Open
  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics

Collaborations have been an important component of their research output. Frequent co-authors are:

  • Jill A. Rosenfeld
  • Mahshid S. Azamian
  • Daryl A. Scott
  • Lindsay C. Burrage
  • Lisa Emrick

Best Publications

  • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

    Nicola Brunetti-Pierri;Jonathan S. Berg;Fernando Scaglia;John Belmont

  • Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

    Pengfei Liu;Ayelet Erez;Sandesh C.Sreenath Nagamani;Shweta U. Dhar

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

    Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  • Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

    Seema R. Lalani;Arsalan M. Safiullah;Susan D. Fernbach;Karine C. Harutyunyan

  • Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

    Linyan Meng;Linyan Meng;Mohan Pammi;Anirudh Saronwala;Pilar Magoulas;Pilar Magoulas

  • Detection of clinically relevant exonic copy‐number changes by array CGH

    Philip M. Boone;Carlos A. Bacino;Chad A. Shaw;Patricia A. Eng

  • Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

    Ian M. Campbell;Bo Yuan;Caroline Robberecht;Rolph P. Pfundt

  • Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

    Laure Frésard;Craig Smail;Nicole M. Ferraro;Nicole A. Teran

  • 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

    Shay Ben-Shachar;Zhishuo Ou;Chad A. Shaw;John W. Belmont

  • Reanalysis of Clinical Exome Sequencing Data

    Pengfei Liu;Linyan Meng;Elizabeth A. Normand;Fan Xia

  • Lessons learned from additional research analyses of unsolved clinical exome cases

    Mohammad K. Eldomery;Mohammad K. Eldomery;Zeynep Coban-Akdemir;Tamar Harel;Jill A. Rosenfeld

  • Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.

    Trilochan Sahoo;Sau Wai Cheung;Patricia Ward;Sandra Darilek

  • MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

    Julia Wang;Rami Al-Ouran;Yanhui Hu;Seon-Young Kim

  • SEMA3E mutation in a patient with CHARGE syndrome

    S R Lalani;A M Safiullah;L M Molinari;S D Fernbach

  • Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis

    Xin Yan Lu;Mai T. Phung;Chad A. Shaw;Kim Pham

  • Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

    Lisenka E.L.M. Vissers;Samarth S. Bhatt;Irene M. Janssen;Zhilian Xia

  • Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

    Lina Shao;Chad A. Shaw;Xin Yan Lu;Trilochan Sahoo

  • Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.

    Seema R. Lalani;Georgirene D. Vladutiu;Katie Plunkett;Timothy E. Lotze

  • The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

    Rachel B. Ramoni;Rachel B. Ramoni;John J. Mulvihill;David R. Adams;Patrick Allard

  • Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

    Sandesh Chakravarthy Sreenath Nagamani;Ayelet Erez;Joseph Shen;Chumei Li

Frequent Co-Authors

Carlos A. Bacino
Carlos A. Bacino Baylor College of Medicine
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
James R. Lupski
James R. Lupski Baylor College of Medicine
Daryl A. Scott
Daryl A. Scott Baylor College of Medicine
Christine M. Eng
Christine M. Eng Baylor College of Medicine
Pawel Stankiewicz
Pawel Stankiewicz Baylor College of Medicine
John W. Belmont
John W. Belmont Baylor College of Medicine
Fan Xia
Fan Xia Baylor College of Medicine
Ankita Patel
Ankita Patel Baylor College of Medicine
Sau Wai Cheung
Sau Wai Cheung Baylor College of Medicine

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