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Genetics

D-Index
88
Citations
25087
World Ranking
1181
National Ranking
566

Overview

Pawel Stankiewicz is affiliated with Baylor College of Medicine in the United States and has a significant body of research primarily within the fields of biochemistry, genetics, molecular biology, and medicine. Their work spans a broad range of subfields including molecular biology, genetics, surgery, pulmonary and respiratory medicine, and cancer research.

The scientist's research focuses notably on topics such as genomic variations and chromosomal abnormalities, congenital heart defects, congenital diaphragmatic hernia studies, genomics and rare diseases, genetics and neurodevelopmental disorders, RNA modifications and cancer, as well as renal and related cancers.

Frequent co-authors collaborating with Pawel Stankiewicz include Tomasz Gambin, Justyna A. Karolak, Przemysław Szafrański, James R. Lupski, and Weimin Bi.

Their publications have appeared repeatedly in several academic outlets. Prominent venues featuring their work include:

  • Faculty Opinions - Post-Publication Peer Review of the Biomedical Literature
  • American Journal of Medical Genetics Part A
  • bioRxiv (Cold Spring Harbor Laboratory)
  • American Journal of Respiratory and Critical Care Medicine
  • Respiratory Research

Selected recent papers authored or co-authored by Pawel Stankiewicz include:

  • Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions, 2020, Genetics in Medicine
  • Molecular Function and Contribution of TBX4 in Development and Disease, 2022, American Journal of Respiratory and Critical Care Medicine
  • Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency, 2021, Respiratory Research
  • Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset, 2021, Human Genomics
  • Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder, 2021, The American Journal of Human Genetics

Best Publications

  • Structural Variation in the Human Genome and its Role in Disease

    Paweł Stankiewicz;James R. Lupski

  • Genome architecture, rearrangements and genomic disorders

    Pawel Stankiewicz;James R. Lupski

  • Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

    James R. Lupski;Jeffrey G. Reid;Claudia Gonzaga-Jauregui;David Rio Deiros

  • Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

    James R Lupski;Pawel Stankiewicz

  • 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

  • Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

    Marwan Shinawi;Pengfei Liu;Sung Hae L Kang;Joseph Shen

  • Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

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

  • Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

    Lorraine Potocki;Weimin Bi;Diane Treadwell-Deering;Claudia M. B. Carvalho

  • Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

    Paweł Stankiewicz;Partha Sen;Samarth S. Bhatt;Mekayla Storer

  • Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.

    Pawel Stankiewicz;Arthur L Beaudet

  • Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

    Cornelius F. Boerkoel;Hiroshi Takashima;Joy John;Jiong Yan

  • Somatic mosaicism: implications for disease and transmission genetics.

    Ian M. Campbell;Chad A. Shaw;Chad A. Shaw;Pawel Stankiewicz;James R. Lupski

  • Alveolar capillary dysplasia.

    Naomi B. Bishop;Pawel Stankiewicz;Robin H. Steinhorn

  • 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

  • Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

    Cornelius F. Boerkoel;Hiroshi Takashima;Pawel Stankiewicz;Carlos A. Garcia

  • Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases

    Xinyan Lu;Chad A. Shaw;Ankita Patel;Jiangzhen Li

  • Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

    S. Ben-Shachar;B. Lanpher;J. R. German;M. Qasaymeh

  • Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

    Gopalrao V.N. Velagaleti;Gabriel A. Bien-Willner;Jill K. Northup;Lillian H. Lockhart

  • Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

    Sau W. Cheung;Chad A. Shaw;Daryl A. Scott;Ankita Patel

Frequent Co-Authors

James R. Lupski
James R. Lupski Baylor College of Medicine
Sau Wai Cheung
Sau Wai Cheung Baylor College of Medicine
Ankita Patel
Ankita Patel Baylor College of Medicine
Chad A. Shaw
Chad A. Shaw Baylor College of Medicine
Tomasz Gambin
Tomasz Gambin Warsaw University of Technology
Seema R. Lalani
Seema R. Lalani Baylor College of Medicine
Carlos A. Bacino
Carlos A. Bacino Baylor College of Medicine
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Arthur L. Beaudet
Arthur L. Beaudet Baylor College of Medicine
Ayelet Erez
Ayelet Erez Weizmann Institute of Science

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