Publications by authors named "Carole Samango-Sprouse"

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Incidence of miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY.
Elizabeth Moser, Margaret Olaya, Andrea Gropman, Teresa Sadeghin, Carole Samango-Sprouse

Front Endocrinol (Lausanne)· December 2025

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First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.
Sumaiya Al-Rashdi, Lori Ekstrom, Aedin Collins, Heidi L Schulz, April Dinwiddie, Carole Samango-Sprouse

Front Endocrinol (Lausanne)· November 2025

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Carole Samango-Sprouse

medRxiv· October 2024

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Carole Samango-Sprouse

Res Sq· June 2024

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The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Adrianna K San Roman, Helen Skaletsky, Alexander K Godfrey, Neha V Bokil, Levi Teitz, Carole Samango-Sprouse

Cell Genom· January 2024

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Reading skills in males with 47,XXY: Risk factors and the influence of hormonal replacement therapy (HRT).
Michaela R Brooks, Andrea L Gropman, Mary P Hamzik, Kosar Khaksari, Sherida Powell, Carole Samango-Sprouse

Genet Med· August 2023

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The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy.
Carole A Samango-Sprouse, Mary P Hamzik, Eliana Gropman, Michaela R Brooks, Sherida Powell

Genet Med· July 2023

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The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age.
Mary P Hamzik, Andrea L Gropman, Michaela R Brooks, Sherida Powell, Teresa Sadeghin, Carole A Samango-Sprouse

Genes (Basel)· July 2023

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The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Adrianna K San Roman, Helen Skaletsky, Alexander K Godfrey, Neha V Bokil, Levi Teitz, Carole Samango-Sprouse

bioRxiv· June 2023

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The human inactive X chromosome modulates expression of the active X chromosome.
Adrianna K San Roman, Alexander K Godfrey, Helen Skaletsky, Daniel W Bellott, Abigail F Groff, Carole Samango-Sprouse

Cell Genom· February 2023

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Novel Neurocognitive Profile in a Minority of Boys with 47,XXY (Klinefelter Syndrome).
Carole A Samango-Sprouse, Mary P Hamzik, Kosar Khaksari, Michaela R Brooks, Teresa Sadeghin

J Dev Behav Pediatr· December 2022

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A longitudinal perspective of hormone replacement therapies (HRTs) on neuromotor capabilities in males with 47,XXY (Klinefelter syndrome).
Carole Samango-Sprouse, Michaela Reiko Brooks, Debra Counts, Mary Pat Hamzik, Sophia Song

Genet Med· June 2022

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Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin.
Carole A Samango-Sprouse, Mary P Hamzik, Kenneth Rosenbaum, Kosar Khaksari, Francie Mitchell

Front Pediatr· March 2022

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Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY.
Sophia Q Song, Andrea Gropman, Robert W Benjamin, Francie Mitchell, Michaela R Brooks, Carole A Samango-Sprouse

Front Genet· January 2022

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Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY.
Laura Tosi, Francie Mitchell, Grace F Porter, Leigh Ruland, Andrea Gropman, Carole A Samango-Sprouse

Am J Med Genet A· December 2021

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Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome.
Debra R Counts, Christine Yu, Patricia C Lasutschinkow, Teresa Sadeghin, Andrea Gropman, Carole A Samango-Sprouse

Am J Med Genet A· December 2021

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Introduction: Comprehensive investigation into an international cohort of boys with 49,XXXXY.
Carole A Samango-Sprouse, Andrea L Gropman

Am J Med Genet A· December 2021

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49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder.
Carole Samango-Sprouse, Patricia C Lasutschinkow, Francie Mitchell, Grace F Porter, Patricia Hendrie

Am J Med Genet A· December 2021

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Neurocognitive development and capabilities in boys with 49,XXXXY syndrome.
Andrea L Gropman, Grace F Porter, Patricia C Lasutschinkow, Teresa Sadeghin, Elizabeth S Tipton, Carole A Samango-Sprouse

Am J Med Genet A· December 2021

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Speech and language development in children with 49,XXXXY syndrome.
Carole A Samango-Sprouse, Patricia C Lasutschinkow, Michael McLeod, Grace F Porter, Sherida Powell

Am J Med Genet A· December 2021

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DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study.
Richard S Lee, Sophia Q Song, Henri M Garrison-Desany, Jenny L Carey, Patricia Lasutschinkow, Carole Samango-Sprouse

Clin Epigenetics· July 2021

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The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood.
Carole Samango-Sprouse, Michaela Reiko Brooks, Patricia Lasutchinkow, Teresa Sadeghin, Sherida Powell

Genet Med· June 2021

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Klinefelter Syndrome and Turner Syndrome.
Carole Samango-Sprouse, Sophia Q Song, Angela E Lin, Cynthia M Powell, Andrea L Gropman

Pediatr Rev· May 2021

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Insight versus hindsight: What we have learned after 17 years of research with sex chromosome abnormalities.
Carole Samango-Sprouse, Debra Counts, Andrea Gropman,

Am J Med Genet A· March 2021

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Detection of maternal X chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testing.
Kimberly A Martin, Carole A Samango-Sprouse, Valerie Kantor, Rupin Dhamankar, Elizabeth Valenti

Am J Obstet Gynecol MFM· August 2020

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