Lorraine Potocki

ScholarGPS® ID: 91547465589828

Affiliation

Baylor College of Medicine, Houston, United States

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

106

Predicted Citations

7,423

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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P871: Genetic insight, social impact: Transforming care through Sotos syndrome diagnosis (journal article) Brooks, Dan \| Mizerik, Elizabeth \| Vossaert, Liesbeth \| Lalani, Seema \| Weisz-Hubshman, Monika \| Potocki, Lorraine \| Robak, Laurie Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101785 Cite \| Source
P703: Pathogenic ZIC2 polyalanine expansion detected by exome sequencing in a family with multi-generation holoprosencephaly (journal article) Owen, Nichole \| Vossaert, Liesbeth \| Potocki, Lorraine \| Mizerik, Elizabeth Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101607 Cite \| Source
P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome (journal article) Vossaert, Liesbeth \| Owen, Nichole \| Dai, Hongzheng \| Kao, Eric \| Zhao, Xiaonan \| Lalani, Seema \| Weisz-Hubshman, Monika \| Potocki, Lorraine \| Mizerik, Elizabeth Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101193 Cite \| Source
P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2 (journal article) Rose, Chelsi \| Mizerik, Elizabeth \| Owen, Nichole \| Thornton, Casey \| Murali, Chaya \| Potocki, Lorraine Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101183 Cite \| Source
P573: Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy (journal article) Thornton, Casey \| Mizerik, Elizabeth \| Brooks, Dan \| Murali, Chaya \| Parobek, Christian \| Potocki, Lorraine \| Liu, Pengfei \| Owen, Nichole \| Vossaert, Liesbeth Genetics in Medicine Open, volume 1, issue 1, pages 100620- (2023). 10.1016/j.gimo.2023.100620 Cite \| Source
Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome (journal article) Kurtz, Kristen J. \| Tallis, Eran \| Marcogliese, Andrea N. \| Pulivarthi, Rao H. \| Potocki, Lorraine \| Stevens, Alexandra M. Pediatric Hematology and Oncology, volume 39, issue 8, pages 747-754 (2022). 10.1080/08880018.2022.2049938 Cited by (1) \| Cite \| Source
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome (journal article) Penon‐Portmann, Monica \| Eldomery, Mohammad K. \| Potocki, Lorraine \| Marafi, Dana \| Posey, Jennifer E. \| Coban‐Akdemir, Zeynep \| Harel, Tamar \| Grochowski, Christopher M. \| Loucks, Hailey \| Devine, Walter Patrick \| ... \| Shieh, Joseph T. American Journal of Medical Genetics Part A, volume 188, issue 8, pages 2360-2366 (2022). 10.1002/ajmg.a.62872 Cited by (3) \| Cite \| Source
A novel, de novo intronic variant in POGZ causes White–Sutton syndrome (journal article) Merriweather, Ashanta \| Murdock, David R. \| Rosenfeld, Jill A. \| Dai, Hongzheng \| Ketkar, Shamika \| Emrick, Lisa \| Nicholas, Sarah \| Lewis, Richard A. \| Bacino, Carlos A. \| Scott, Daryl A. \| ... \| Burrage, Lindsay C. American Journal of Medical Genetics Part A, volume 188, issue 7, pages 2198-2203 (2022). 10.1002/ajmg.a.62747 Cited by (2) \| Cite \| Source
An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes (journal article) Glinton, Kevin E. \| Potocki, Lorraine \| Dhar, Shweta U. Genetics in Medicine, volume 24, issue 3, pages 722-728 (2022). 10.1016/j.gim.2021.10.017 Cited by (6) \| Cite \| Source
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay (journal article) Odom, John \| Amin, Hitha \| Gijavanekar, Charul \| Elsea, Sarah H. \| Kralik, Stephen \| Chinen, Javier \| Lin, Yuezhen \| Yates, Amber Meshell Mayfield \| Mizerik, Elizabeth \| Potocki, Lorraine \| Scaglia, Fernando American Journal of Medical Genetics Part A, volume 188, issue 1, pages 259-268 (2022). 10.1002/ajmg.a.62482 Cited by (5) \| Cite \| Source
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans (journal article) Gofin, Yoel \| Mackay, Laura Palmer \| Machol, Keren \| Keswani, Sundeep \| Potocki, Lorraine \| Di Gregorio, Eleonora \| Naretto, Valeria \| Brusco, Alfredo \| Hernandez-Garcia, Andres \| Scott, Daryl Molecular Genetics and Metabolism, volume 132 (2021). 10.1016/S1096-7192(21)00212-2 Cite \| Source
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans (journal article) Gofin, Yoel \| Mackay, Laura Palmer \| Machol, Keren \| Keswani, Sundeep \| Potocki, Lorraine \| Di Gregorio, Eleonora \| Naretto, Valeria Giorgia \| Brusco, Alfredo \| Hernandez‐Garcia, Andres \| Scott, Daryl A. American Journal of Medical Genetics Part A, volume 185, issue 3, pages 836-840 (2021). 10.1002/ajmg.a.62066 Cited by (3) \| Cite \| Source
Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS (journal article) Franciskovich, Rachel \| Soler‐Alfonso, Claudia \| Neira‐Fresneda, Juanita \| Lupski, James R. \| McCann‐Crosby, Bonnie \| Potocki, Lorraine American Journal of Medical Genetics Part A, volume 182, issue 9, pages 2077-2084 (2020). 10.1002/ajmg.a.61741 Cited by (6) \| Cite \| Source
TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family (journal article) Streff, Haley \| Posey, Jennifer E. \| Mauer, Caitlin B. \| Krempely, Kate \| Potocki, Lorraine \| Northrup, Hope Pediatric Neurology, volume 110 (2020). 10.1016/j.pediatrneurol.2020.04.017 Cited by (3) \| Cite \| Source
Management of Sleep Disturbances Associated with Smith-Magenis Syndrome (journal article) Kaplan, Kevin A. \| Elsea, Sarah H. \| Potocki, Lorraine CNS Drugs, volume 34, issue 7, pages 723-730 (2020). 10.1007/s40263-020-00733-5 Cited by (9) \| Cite \| Source
GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment (journal article) Markovitz, Rebecca \| Ghosh, Rajarshi \| Kuo, Molly E. \| Hong, William \| Lim, Jaehyung \| Bernes, Saunder \| Manberg, Stephanie \| Crosby, Kathleen \| Tanpaiboon, Pranoot \| Bharucha‐Goebel, Diana \| ... \| Potocki, Lorraine American Journal of Medical Genetics Part A, volume 182, issue 5, pages 1167-1176 (2020). 10.1002/ajmg.a.61544 Cited by (16) \| Cite \| Source
Hypertension in Potocki-Shaffer syndrome: A case report (journal article) Wissman, Scott D. \| McCool, Caroline \| Potocki, Lorraine \| Elenberg, Ewa European Journal of Medical Genetics, volume 63, issue 1, pages 103633- (2020). 10.1016/j.ejmg.2019.02.005 Cited by (2) \| Cite \| Source
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability (journal article) Thomas, Elizabeth \| Lewis, Andrea M. \| Yang, Yaping \| Chanprasert, Sirisak \| Potocki, Lorraine \| Scott, Daryl A. Journal of Pediatric Genetics, volume 08, issue 04, pages 244-251 (2019). 10.1055/s-0039-1693151 Cited by (10) \| Cite \| Source
Objective measures of sleep disturbances in children with Potocki–Lupski syndrome (journal article) Kaplan, Kevin \| McCool, Caroline \| Lupski, James R. \| Glaze, Daniel \| Potocki, Lorraine American Journal of Medical Genetics Part A, volume 179, issue 10, pages 1982-1986 (2019). 10.1002/ajmg.a.61307 Cited by (4) \| Cite \| Source
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) (journal article) Rahikkala, Elisa \| Myllykoski, Matti \| Hinttala, Reetta \| Vieira, Päivi \| Nayebzadeh, Naemeh \| Weiss, Simone \| Plomp, Astrid S. \| Bittner, Reginald E. \| Kurki, Mitja I. \| Kuismin, Outi \| ... \| Uusimaa, Johanna Genetics in Medicine, volume 21, issue 10, pages 2355-2363 (2019). 10.1038/s41436-019-0503-4 Cited by (16) \| Cite \| Source

Title	Investigators	Year	Cost	Agency
CLINICAL CORRELATIONS OF CONTIGUOUS GENE SYNDROMES	Potocki, Lorraine	2010	$7,631	NATIONAL CENTER FOR RESEARCH RESOURCES
CLINICAL CORRELATIONS OF CONTIGUOUS GENE SYNDROMES	Potocki, Lorraine	2009	$21,923	NATIONAL CENTER FOR RESEARCH RESOURCES
CLINICAL CORRELATIONS OF CONTIGUOUS GENE SYNDROMES	Potocki, Lorraine	2008	$11,824	NATIONAL CENTER FOR RESEARCH RESOURCES
CLINICAL AND MOLECULAR ANALYSES OF THE POTOCKI-SHAFFER SYNDROME	Potocki, Lorraine	2005	$13,665	NATIONAL CENTER FOR RESEARCH RESOURCES
Clinical and Molecular Analyses of the Potocki-Shaffer Syndrome	Potocki, Lorraine	2004	$10,223	NATIONAL CENTER FOR RESEARCH RESOURCES
MOLECULAR &CLINICAL ANALYSIS OF SMITH-MAGENIS SYNDROME	Potocki, Lorraine	2000	$84,927	EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT
MOLECULAR &CLINICAL ANALYSIS OF SMITH-MAGENIS SYNDROME	Potocki, Lorraine	1999	$84,927	EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT
MOLECULAR &CLINICAL ANALYSIS OF SMITH-MAGENIS SYNDROME	Potocki, Lorraine	1998	$84,927	EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT
MOLECULAR &CLINICAL ANALYSIS OF SMITH-MAGENIS SYNDROME	Potocki, Lorraine	1997	$84,927	EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT
MOLECULAR &CLINICAL ANALYSIS OF SMITH-MAGENIS SYNDROME	Potocki, Lorraine	1996	$84,927	EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT