Lois Janelle Starr (Lois J Starr, Lois Starr)

Publication Activity (10 Years)

Years Active: 2019-2022
Publications (10 Years): 12

Top Topics

Coronary Artery

Mitochondrial Dna

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

This page only lists publications with an associated author ORCID identifier.

Publications

Lois Janelle Starr, Mark E Lindsay, Deborah Perry, Gregory Gheewalla, Paul A VanderLaan, Adnan Majid, Charlie Strange, George-Claudiu Costea, Adrian Lungu, Angela E Lin
Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (2022)
Lois Janelle Starr, Mark Evan Lindsay, Christian Lino Cardenas, Anji T Yetman
Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome. American journal of medical genetics. Part A (2022)
Lois Janelle Starr, Mark Evan Lindsay, Christian Lacks Lino Cardenas, Anji T Yetman
Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome. American journal of medical genetics. Part A (2022)
Lois Janelle Starr, Mark Evan Lindsay, Christian Lacks Lino Cardenas, Anji T Yetman
Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome. American journal of medical genetics. Part A 191 (3) (2022)
Christopher Thomas Cummings, Lois Janelle Starr
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome. American journal of medical genetics. Part A (2022)
Lois Janelle Starr, Mark Evan Lindsay, Christian Lacks Lino Cardenas, Anji T Yetman
Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome. American journal of medical genetics. Part A 191 (3) (2022)
Lois Janelle Starr, Mark Evan Lindsay, Christian Lacks Lino Cardenas, Anji T Yetman
Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome. American journal of medical genetics. Part A 191 (3) (2022)
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, Nina B Gold, Dong Li, Hans T Bjornsson, Julie S Cohen, Jill A Fahrner, Ali Fatemi, Jacqueline R Harris, Catherine Nowak, Cathy A Stevens, Katheryn Grand, Margaret G Au, John M Graham, Pedro A Sanchez-Lara, Miguel Del Campo, Marilyn C Jones, Omar A Abdul-Rahman, Fowzan Sami Alkuraya, Jennifer A Bassetti, Katherine L Bergstrom, Elizabeth Joyce Bhoj, Sarah Dugan, Julie D Kaplan, Nada Derar, Karen W Gripp, Natalie S Hauser, A Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J Nowaczyk, Zuhair Rahbeeni, Shay Ben-Shachar, Joseph T Shieh, Anne Slavotinek, Andrew K Sobering, Mary-Alice Abbott, Dawn C Allain, Louise Amlie-Wolf, Ping Yee Billie Au, Emma C Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A Bernstein, Cheryl Cytrynbaum, Brian Hon-Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison J Eaton, Josue A Flores-Daboub, Holly Dubbs, Carolyn A Felix, Chin-To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui-Yan Kwok, Rebekah K Jobling, Amy E Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D Ross McLeod, Frank D Mentch, Kelly Minks, Colleen Muraresku, Stanley F Nelson, Patrizia Porazzi, Pavel N Pichurin, Nina N Powell-Hamilton, Zoe Powis, Alyssa L Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Janelle Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J Zand, Marni J Falk, Hakon H Hakonarson, Elaine H Zackai, Fabiola Quintero-Rivera
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. American journal of medical genetics. Part A 185 (6) (2021)
Alejandro Wolf, Joseph M Rohr, Catalina Amador, Lois Janelle Starr, James D Hoyer, James B Ford
Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening. Hemoglobin 43 (3) (2019)
Rohan Khazanchi, Carey A Ronspies, Scott C Smith, Lois Janelle Starr
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability. American journal of medical genetics. Part A 179 (5) (2019)
Lois Janelle Starr, Jürgen W Spranger, Vamshi K Rao, Richard Lutz, Anji T Yetman
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype. American journal of medical genetics. Part A 179 (7) (2019)
Angela E Lin, Abdulrazak Alali, Lois Janelle Starr, Nidhi Shah, Anna Beavis, Elaine M Pereira, Mark E Lindsay, Susan Klugman
Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. American journal of medical genetics. Part A 182 (2) (2019)