Tomi L. Toler

发表

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

W. Chung, Yufeng Shen, A. Telegrafi, 2016, American journal of human genetics.

Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.

M. Shinawi, E. Bellacchio, C. Dallabona, 2023, Molecular genetics and metabolism.

Expanded carrier screening for reproductive risk assessment: An evidence‐based practice guideline from the National Society of Genetic Counselors

B. Stevens, K. Sagaser, K. Blakemore, 2023, Journal of genetic counseling.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

M. Bihoreau, J. Laplanche, G. Captier, 2019, Genetics in Medicine.

Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome

Rebecca C. Spillmann, V. Shashi, R. Spillmann, 2020, American journal of medical genetics. Part A.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

The Exome Clinic and the Role of Medical Genetics Expertise in Interpretation of Exome Sequencing Results

Dustin Baldridge, Marwan Shinawi, M. Shinawi, 2017, Genetics in Medicine.

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

K. Claes, Joseph J Shen, T. Callens, 2013, Genetics in Medicine.

Detecting celiac disease in patients with Down syndrome

J. Florez, A. Ozonoff, B. Skotko, 2016, American journal of medical genetics. Part A.

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

W. Chung, J. Shimony, M. Shinawi, 2018, Human mutation.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

J. Gusella, C. Morton, M. Talkowski, 2014, Molecular Psychiatry.

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency

P. Chakraborty, N. Sondheimer, M. Geraghty, 2021, European Journal of Human Genetics.

Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations

David T. Miller, D. Milewicz, A. Lin, 2013, American journal of medical genetics. Part A.

National down syndrome patient database: Insights from the development of a multi‐center registry study

J. Florez, A. Ozonoff, B. Skotko, 2015, American journal of medical genetics. Part A.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, R. Møller, M. Shinawi, 2020, Genetics in Medicine.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

J. Gusella, C. Morton, M. Talkowski, 2014, Molecular Psychiatry.

Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study

J. Florez, A. Ozonoff, B. Skotko, 2017, American journal of medical genetics. Part A.