Overview:

I am a board-certified pediatrician and clinical geneticist with additional fellowship training in medical biochemical genetics. I care for patients of all ages with known or suspected genetic conditions, including single-gene disorders, chromosome conditions and inherited metabolic disorders.

I also see patients whose symptoms, family history or test results suggest a genetic condition, even when a diagnosis has not yet been established.

Reasons patients may see me

Patients and families may see me for:

• A new or established genetic diagnosis
• A suspected genetic condition without a confirmed diagnosis
• Unexplained symptoms affecting multiple parts of the body
• An abnormal newborn screening result
• Ongoing management of a single-gene, chromosome or inherited metabolic disorder
• Transfer of care from another genetics clinic
• A second opinion about a diagnosis, test result or treatment plan

This is not a complete list. Our genetics team evaluates a wide range of known and suspected genetic conditions and can help determine the most appropriate provider for a referral.

Areas of clinical interest

General genetics: Evaluation and care for people with known or suspected single-gene and chromosome conditions.

Inherited metabolic disorders: Diagnosis and long-term management of conditions that affect how the body processes nutrients or produces energy.

Newborn screening: Evaluation of abnormal newborn screening results and coordination of confirmatory testing and treatment when needed.

Multisystem conditions: Assessment of symptoms involving several organs or body systems when a shared genetic cause is possible.

Emerging treatments: Helping patients and families understand evolving treatment options, including clinical trials and gene-based therapies when relevant.

My approach to care

People may come to genetics with a new diagnosis, years of unanswered questions or uncertainty about a test result. I explain what we know, what remains uncertain and what may come next in clear language.

I work with patients and families as partners and collaborate with genetic counselors, dietitians, nurses, pharmacists, laboratory specialists and other medical teams. My goal is for each person to feel heard, understand the reasoning behind our recommendations and participate in decisions about their care.

What to expect at the first visit

At the first appointment, the genetics team will review the referral, medical and developmental history, family history, prior evaluations, laboratory results and previous genetic testing. There will be time to discuss concerns, ask questions and clarify what the patient or family hopes to learn.

Because genetic conditions can affect many parts of the body, a physical examination is often an important part of the visit. Depending on the reason for the appointment, this may include taking measurements and examining the skin, joints, hands, feet or other relevant areas. Patients may be asked to remove shoes and socks or adjust clothing so the appropriate areas can be examined.

The visit may also include reviewing prior results, discussing additional testing, developing a treatment or monitoring plan, or coordinating care with other specialists. Genetic testing is not necessary or appropriate at every visit. When testing is considered, we explain what it may and may not answer, the possible results and how those results could affect care.

Outside of work

Outside of work, I enjoy running, playing basketball and exploring Oregon with my family and dog.

Selected publications

Summerlin M, Harding C, Starosta RT, Sliwoski L, Viall S, Kripps K. Newborn screening for low blood citrulline leads to diagnosis of ornithine aminotransferase deficiency. Molecular Genetics and Metabolism. 2026;148(3):110161. PMID: 42184784.

Shur NE, Summerlin ML, McIntosh BJ, Shalaby-Rana E, Hinds TS. Genetic causes of fractures and subdural hematomas: fact versus fiction. Pediatric Radiology. 2021;51(6):1029–1043. PMID: 33999244.

Shur N, Summerlin ML, Robin NH, Moreno-Mendelson A, Shalaby-Rana E, Hinds T. Genetic consultations in cases of unexplained fractures and haemorrhage: an evidence-based approach. Current Opinion in Pediatrics. 2021;33(1):3–18. PMID: 33337606.

Summerlin ML, Regier DS, Fraser JL, et al. Use of dexamethasone in idiopathic acute pediatric rhabdomyolysis. American Journal of Medical Genetics Part A. 2021;185(2):500–507. PMID: 33300687.