Publications by authors named "Myla Ashfaq"

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Myla Ashfaq

Cell· December 2025

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Utility of Prenatal Screening and Diagnostic Testing for Skeletal Dysplasias.
Nicolette Murphey, Blair Stevens, Kestutis Micke, Jimmy Espinoza, Myla Ashfaq

Fetal Diagn Ther· October 2025

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Medical students' self-perceived knowledge and clinical comfort with genetics in Pakistan.
Maheen Arshad, Angela Trepanier, S Shahrukh Hashmi, Rizwan Naeem, Saqib Mehmood, Myla Ashfaq

J Genet Couns· October 2024

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Myla Ashfaq

medRxiv· August 2024

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Developing medical genetics in a low-income country: Unveiling the journey of the Pakistani Society of Medical Genetics and Genomics (PSMG).
Aisha Furqan, Syed A Ahmed, Rizwan Naeem, Myla Ashfaq

Genet Med Open· August 2024

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Disability education and implications for genetic counselor training.
Lauren Douglas, Jennifer Czerwinski, Rose Vukovic, Myla Ashfaq, Rebecca Lunstroth

J Genet Couns· December 2023

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Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American origin.
Shelby L Mills, Paige Roberts, Myla Ashfaq, Kathryn Leal, Hope Northrup

JIMD Rep· November 2023

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Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: a web-based panel discussion.
Myla Ashfaq, Syed A Ahmed, Rabia Aziz-Rizvi, Zahra Hasan, Salman Kirmani

J Community Genet· February 2023

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Myla Ashfaq

Genet Med· February 2023

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Myla Ashfaq

Genet Med· August 2022

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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Chaofan Zhang, Angad Jolly, Brian J Shayota, Juliana F Mazzeu, Haowei Du, Myla Ashfaq

HGG Adv· January 2022

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Hypoglycemia in mitochondrial disorders.
Myla Ashfaq, Allison R Moats, Hope Northrup, Claire N Singletary, S Shahrukh Hashmi

Mitochondrion· May 2021

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Exploring the predicted yield of prenatal testing by evaluating a postnatal population with structural abnormalities using a novel mathematical model.
Peyton B Nunley, Syed S Hashmi, Anthony Johnson, Myla Ashfaq, Laura S Farach

Prenat Diagn· February 2021

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The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health Treatment.
Kate E Mowrey, Myla Ashfaq, Deborah A Pearson, Syed S Hashmi, Steven L Roberds

Pediatr Neurol· February 2019

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Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources.
Ellen Zirkelbach, Syed Hashmi, Aarti Ramdaney, Leslie Dunnington, Myla Ashfaq

J Genet Couns· August 2018

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Identification of novel candidate disease genes from de novo exonic copy number variants.
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A Rosenfeld, Myla Ashfaq

Genome Med· September 2017

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Knowledge and Self-Esteem of Individuals with Neurofibromatosis Type 1 (NF1).
Kayla Rosnau, S Shahrukh Hashmi, Hope Northrup, John Slopis, Sarah Noblin, Myla Ashfaq

J Genet Couns· June 2017

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The views of Pakistani doctors regarding genetic counseling services - is there a future?
Myla Ashfaq, Farhana Amanullah, Ayesha Ashfaq, Kelly E Ormond

J Genet Couns· December 2013

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