Publications by authors named "Maha Alnemer"

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Longitudinal analysis of maternal exposure to phthalates and bisphenol A and their impact on infant neurodevelopment and autistic behavior: The potential mediating role of thyroid hormones.
Iman Al-Saleh, Yara Aljerayed, Mais Gheith, Norah Alobaid, Haneen Alenazi, Maha Alnemer

Int J Hyg Environ Health· August 2025

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Feasibility, safety, and outcome of fetoscopic endoluminal tracheal occlusion for severe congenital diaphragmatic hernia at a low case-load center: one center's experience.
Saud Alshanafey, Wesam I Kurdi, Maha Tulbah, Rubina Ma Khan, Nada Al Sahan

Ann Saudi Med· December 2024

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Assessment of maternal phthalate exposure in urine across three trimesters and at delivery (umbilical cord blood and placenta) and its influence on birth anthropometric measures.
Iman Al-Saleh, Rola Elkhatib, Reem Alghamdi, Nujud Alrushud, Hissah Alnuwaysir, Maha Alnemer

Sci Total Environ· November 2024

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Phthalate exposure during pregnancy and its association with thyroid hormones: A prospective cohort study.
Iman Al-Saleh, Rola Elkhatib, Reem Alghamdi, Nujud Alrushud, Hissah Alnuwaysir, Maha Alnemer

Int J Hyg Environ Health· August 2024

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Management of twin reversed arterial perfusion sequence: eight cases over 13 years.
Saud Alshanafey, Maha Al-Nemer, Maha Tulbah, Rubina Ma Khan, Nada Al Sahan

Ann Saudi Med· November 2023

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Chorioangioma: a single tertiary care center retrospective study.
Bashayer Saeed, Asma Tulbah, Marwah Bintalib, Edward Bentz De Vol, Samar Almogbel, Maha Alnemer

J Perinat Med· June 2023

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Observational cohort study of perinatal outcomes of women with COVID-19.
Sami Al-Hajjar, Lina Ibrahim, Wesam Kurdi, Maha Tulbah, Maha Alnemer

J Infect Public Health· December 2022

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Maha Alnemer

Genet Med· October 2022

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Maha Alnemer

Genet Med· July 2022

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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Mohamed H Al-Hamed, Wesam Kurdi, Rubina Khan, Maha Tulbah, Maha AlNemer

Hum Genet· January 2022

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Complications of intravascular intrauterine transfusion for Rh alloimmunization.
Asma Alkhaibary, Mohannad Ali, Maha Tulbah, Maha Al-Nemer, Rubina M Khan

Ann Saudi Med· December 2021

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Potential health risks of maternal phthalate exposure during the first trimester - The Saudi Early Autism and Environment Study (SEAES).
Iman Al-Saleh, Rola Elkhatib, Nujud Alrushud, Hissah Alnuwaysir, Maha Alnemer

Environ Res· April 2021

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Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.
Fatema Alzahrani, Hiroyuki Kuwahara, Yongkang Long, Mohammed Al-Owain, Mohamed Tohary, Maha Alnemer

Am J Hum Genet· December 2020

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Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
Mohamed H Al-Hamed, Nada Alsahan, Sarah J Rice, Noel Edwards, Eman Nooreddeen, Maha Alnemer

Pediatr Nephrol· September 2019

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Molecular autopsy in maternal-fetal medicine.
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff

Genet Med· April 2018

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair Alhassnan, Maha Alotaibi, Maha Alnemer

Hum Genet· August 2017

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Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism.
Raashda Ainuddin Sulaiman, Maha Al-Nemer, Rubina Khan, Munirah Almasned, Bedour S Handoum

JIMD Rep· May 2017

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
John J Reynolds, Louise S Bicknell, Paula Carroll, Martin R Higgs, Ranad Shaheen, Maha Alnemer

Nat Genet· April 2017

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Characterizing the morbid genome of ciliopathies.
Ranad Shaheen, Katarzyna Szymanska, Basudha Basu, Nisha Patel, Nour Ewida, Maha Alnemer

Genome Biol· November 2016

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Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Ranad Shaheen, Nisha Patel, Hanan Shamseldin, Fatema Alzahrani, Ruah Al-Yamany, Maha Alnemer

Genet Med· July 2016

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Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
Mohamed H Al-Hamed, Wesam Kurdi, Nada Alsahan, Zainab Alabdullah, Rania Abudraz, Maha Alnemer

J Med Genet· May 2016

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Identification of a novel MKS locus defined by TMEM107 mutation.
Ranad Shaheen, Agaadir Almoisheer, Eissa Faqeih, Zainab Babay, Dorota Monies, Maha Alnemer

Hum Mol Genet· September 2015

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Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.
Osama Y Al-Dirbashi, Wesam Kurdi, Faiqa Imtiaz, Asmahan M Ahmad, Moeenaldeen Al-Sayed

Prenat Diagn· May 2009

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