2026 PMSF Family Conference
Speaker Biographies

Alex Kolevzon, MD, Clinical Director, Seaver Autism Center for Research and Treatment Director of Child and Adolescent Psychiatry, Icahn School of Medicine at Mount Sinai

Dr. Alex Kolevzon is a child and adolescent psychiatrist and Professor of Psychiatry and Pediatrics at the Icahn School of Medicine at Mount Sinai. He serves as the Director of Child and Adolescent Psychiatry for the Mount Sinai Health System and the Clinical Director of the Seaver Autism Center for Research and Treatment at Mount Sinai. His research interests pertain to understanding the neurobiology of autism and related neurodevelopmental disorders, biomarker discovery, and developing novel therapeutics. Most recently, his group has focused on studying specific genetic forms of autism, including Phelan-McDermid syndrome, to explore targets for pharmacological intervention.

Dr. Kolevzon is a leader of the Phelan-McDermid syndrome network for the Developmental Synaptopathies Consortium as part of the Rare Disease Clinical Research Network funded by the NIH. This is a long-standing productive Natural History Study. He is also the Chair of the PMSF Medical Advisory Committee, a leader of the Phelan-McDermid syndrome clinical consensus guidelines, the PI of multiple clinical trials in Phelan-McDermid syndrome, a member of the Neuropsychiatric Consult Group, and a mentor to the past PMSF-funded investigators. Dr. Kolevzon also leads the Experimental Therapeutics Program at the Seaver Autism Center which conducts studies that range from small pilot trials to multi-centered pivotal FDA studies.

Alex Shcheglovitov, PhD, Associate Professor of Neurobiology, University of Utah, Faculty Director of Cellular & Translational Research Core, Utah Clinical & Translational Science Institute

Dr. Shcheglovitov has been an active researcher in the Phelan-McDermid syndrome community for more than ten years. His lab specializes in human induced pluripotent stem cells (IPSCs) and organoids as models for studying neurodevelopment and neurodevelopmental disease. Ultimately, his lab is focused on discovering new therapies for patients with autism, genetic neurodevelopmental disorders, and drug-resistant pediatric epilepsy. His work has been foundational to understanding SHANK3 deficiency in cells. Dr. Shcheglovitov is an active member of the PMSF Scientific Advisory Committee.

Amelle L. Shillington, DO, Attending Physician, Division of Human Genetics, Associate Program Director, Medical Genetics and Genomics Residencies, Assistant Professor, UC Department of Pediatrics

Dr. Shillington is a board-certified clinical geneticist and an attending physician and assistant professor in the division of human genetics. Her interests include the clinical evaluation and diagnosis of genetic syndromes and risk variants in children and adults with neurodevelopmental disorders including autism spectrum disorder, intellectual disability and psychiatric disease burden. The focus of her research is on increasing accessibility to genetic testing for patients with neurodevelopmental disorders. She has an interest in emerging technologies for clinical diagnosis of neurodevelopmental disorders and has active collaborations to explore long read genomic sequencing techniques. She is the site clinical geneticist for the SPARK Simon’s foundation research genomic sequencing for patients with autism and for the Autism Care Network PATH to Discovery Project.

Anne Wheeler, PhD, Neurodevelopmental Psychologist and Rare Disease Researcher, RTI International

Dr. Anne Wheeler is a neurodevelopmental psychologist and senior research analyst at RTI International, where she conducts multiple research projects focused on the development of tools and strategies to improve outcomes for individuals with intellectual/developmental disabilities, especially those with rare monogenetic/neurogenetic conditions. Much of her work focuses on efforts to identify and improve outcome measures used to determine change in clinical trials for rare conditions like Angelman, Dup15q, and Phelan-McDermid syndromes. She also works on projects aiming to reduce diagnostic odysseys through newborn screening and supporting rare disease caregivers through evidence-based telehealth programs.

Dr. Wheeler is also an Adjunct Associate Professor of Psychiatry and School Psychology at the University of North Carolina at Chapel Hill and a practicing licensed psychologist at the Carolina Institute for Developmental Disabilities where she provides developmental and behavioral consultation for individuals with neurogenetic diagnoses. She has been involved in clinical service provision and research focused on developmental and familial outcomes for children with genetic diagnoses for over 25 years.

Audrey Thurm, PhD, Director, Neurodevelopmental and Behavioral Phenotyping Service, Intramural Research Program, National Institutes of Mental Health

Dr. Audrey Thurm received training at DePaul University and Boston Children’s Hospital/Harvard Medical School, and conducted a post-doctoral fellowship at Johns Hopkins School of Medicine. She spent over two decades at the National Institute of Mental Health, serving in the extramural program as a program officer and working in the intramural program to help launch the autism research program and initiate a Neurodevelopmental and Behavioral Phenotyping Service.  She is now a faculty member at Boston Children’s Hospital.

A primary goal of her research is to improve instrumentation to allow for more finely-tuned developmental assessments that distinguish various phenotype-genotype relationships and serve as useful treatment outcome measures. She has been a long-term advocate in Phelan-McDermid syndrome, as PMSF’s Scientific Advisory Committee member, has a leadership role in the Phelan-McDermid syndrome Natural History Study, serves as an advisor for collaborative efforts such as the Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism (AGENDA), sits on the Neuropsychiatric Consult Group, and has helped adapt and test assessments for Phelan-McDermid syndrome.

Boaz Barak, PhD, Prof. Boaz Barak, The Sagol School of Neuroscience and The School of Psychological Sciences, Tel Aviv University, Israel

Prof. Boaz Barak is an Associate Professor at Tel Aviv University, jointly appointed in the School of Psychological Sciences and the Sagol School of Neuroscience. He leads an internationally recognized research program focused on the neurobiology of neurodevelopmental disorders, with a special emphasis on myelination, neuron–glia interactions, SHANK3-related autism, and Williams syndrome. His laboratory integrates molecular neuroscience, in vivo and in vitro models, human iPSC systems, imaging, and translational approaches to uncover mechanisms of brain development and identify novel therapeutic strategies.

Prof. Barak earned his B.Sc. (Magna Cum Laude), Ph.D. in Neurobiology, and Global M.B.A. from Tel Aviv University, followed by a postdoctoral fellowship at MIT in the laboratory of Prof. Guoping Feng. He joined Tel Aviv University as faculty in 2017, and currently serves as Head of the Psychobiology Department, Head of the Clinical Neuroscience Program, and member of the University Invention and Patent Committee.

He has received numerous awards, including the 2024 Best Basic Researcher Award from the Israeli Rare Diseases Coalition, repeated Excellence in Teaching (Club 100) honors, and competitive international grants. Prof. Barak is a frequent invited speaker at major global conferences, has organized and chaired multiple scientific symposia, and serves on editorial boards and grant panels.

His research has produced high-impact publications in Nature Neuroscience, Science Advances, Molecular Psychiatry, Nature Communications, and others, and has contributed to the development of novel therapeutic directions, including remyelinating strategies and clinical translation for neurodevelopmental disorders.

Calliope Holingue, MPH, PhD, Assistant Professor, Center for Autism Services, Science, and Innovation (CASSI™), Kennedy Krieger Institute; Department of Mental Health, Johns Hopkins Bloomberg School of Public Health

Calliope Holingue, MPH, PhD, is a research faculty member at the Kennedy Krieger Institute’s Center for Autism Services, Science, and Innovation (CASSI) and an Assistant Professor in the Department of Mental Health at the Johns Hopkins Bloomberg School of Public Health. Her work examines the intersection of physical health, mental health, and neurodevelopment, with a particular focus on autistic and neurodivergent populations. She studies how gastrointestinal functioning, the gut microbiome, and early-life immune exposures relate to behavioral and mental-health outcomes.

Cristan Farmer, PhD, Boston Children’s Hospital

Cristan Farmer, Ph.D. is a psychologist and statistician in the Translational Neuroscience Center and Department of Neurology at Boston Children’s Hospital. She has a longstanding commitment to understanding and improving outcomes for individuals with significant intellectual disability, starting with a doctorate in Intellectual and Developmental Disability Psychology from The Ohio State University. Over more than 15 years in the Intramural Research Program of the National Institute of Mental Health, and now at BCH, Dr. Farmer has worked across a range of rare neurodevelopmental conditions including PMS. A central theme of Dr. Farmer’s work is strengthening research methods to ensure studies are as meaningful and impactful as possible for individuals and families. Her research focuses on how neurodevelopment is measured and how those data are analyzed, with particular emphasis on improving the design and interpretation of clinical trials in rare diseases.

Guoping Feng, PhD, Poitras Professor of Neuroscience; Associate Director, McGovern Institute for Brain Research; Director, Hock E. Tan and K. Lisa Yang Center for Autism Research; Department of Brain and Cognitive Sciences; Massachusetts Institute of Technology; Director of Model Systems and Neurobiology; Stanley Center for Psychiatric Research; Institute Member; Broad Institute of MIT and Harvard

Dr. Feng is the Poitras Professor of Neuroscience in the McGovern Institute for Brain Research and Director of Hock E. Tan and K. Lisa Yang Center for Autism Research at the Massachusetts Institute of Technology (MIT). He also directs model systems and neurobiology in Stanley Center for Psychiatric Research at the Broad Institute of MIT and Harvard. Dr. Feng’s research is devoted to understanding the development and function of synapses in the brain (the place where neurons communicate). He also studies the dysfunction of synapses in disease, with a special focus on neurodevelopmental and psychiatric disorders. Dr. Feng has done foundational work studying SHANK3 – an important synapse gene which is highly connected with PMS and autism. He has generated animal models which harbor genetic alterations to SHANK3 and allow models of PMS to be widely studied in laboratories. He is also involved in developing technology and overseeing projects surrounding SHANK3 gene therapy.

Haitham Amal, PhD, Boston Children’s Hospital, Hebrew University, NeuroNOS Therapeutics, Point6 Bio

Dr. Haitham Amal is an internationally recognized expert in brain disorders and head of the Laboratory of Neuromics, Cell Signaling, and Translational Medicine. His research integrates OMICs technologies, systems biology, and biochemical and behavioral approaches to develop diagnostic and therapeutic strategies for neurodevelopmental disorders, neurodegenerative diseases, and brain cancers.

He is a Visiting Professor at Boston Children’s Hospital and Harvard Medical School, and a tenured Associate Professor at the Hebrew University of Jerusalem. Previously at MIT, where he started to work on ASD and PMS. He has made key discoveries linking nitric oxide and environmental toxins to autism spectrum disorder and neurodegenerative disease, and has led major international research consortia. He is also a co-founder of Point6 Bio and NeuroNOS, companies focused on AI-based diagnostics and novel therapeutics for neurological disorders.

Jimmy L. Holder, Jr. MD, PhD, Co-Chair BCM Medical School Admissions Committee, Joan and Stanford Alexander Chair for Neuropsychiatric Genetics, Associate Professor of Pediatrics and Neurology Texas Children’s Hospital and Baylor College of Medicine

Dr. Holder is a Child Neurologist at Baylor College of Medicine and Texas Children’s Hospital. He is a graduate of Johns Hopkins University and obtained his MD and PhD in human genetics at the University of Texas Southwestern Medical Center. He completed a fellowship in Neurogenetics at the University of California San Francisco. He then returned to Texas to complete his residency in Pediatrics and fellowship in Child Neurology at Baylor College of Medicine. He is director of the Shankopathy clinic at the Blue Bird Circle Clinic for Pediatric Neurology where he currently cares for over 60 children and adults with Phelan-McDermid syndrome. He is a respected expert on seizures and epilepsy in Phelan-McDermid syndrome and other disorders. He is also a principal investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital where he investigates the neurobiological and molecular basis of Phelan-McDermid syndrome.

João Peça, PhD, Center for Neuroscience and Cell Biology, University of Coimbra

João Peça is Tenured Assistant Professor at the University of Coimbra and Group Leader at the Center for Neuroscience and Cell Biology (CNC-UC). João completed his Ph.D. research at Duke University, where he pioneered the field of optogenetics and specialized in mouse molecular genetics. He then performed postdoctoral research at MIT researching the role for cortico-striatal dysfunction in autism spectrum disorders. His current research interest centres on using advanced models to understand how genetic and environmental risk factors translate to neuronal circuit alterations in neuropsychiatric disorders. His work has led to primary research papers in high-impact journals, including Nature, Nature Communications, Molecular Psychiatry, PNAS, and Neuron. João Peça was an FCT Investigator (2013-2018), won a Marie Curie Career Integration Grant (2014) and was a NARSAD Young Investigator (2014–2016). In 2018 he become Group Leader at CNC-UC, in 2019 won the “Pfizer Prize in Basic Research”, in 2022 he was awarded a “Special Recognition in Science” by the World Cultural Council. 

João Peça is a member of the Board of Directors of CNC-UC, he is Treasurer of the Portuguese Society for Neuroscience, and a member of the Board of Education for “Neurasmus: the European Masters in Neuroscience.

Jonathan D. Santoro, MD, Children’s Hospital of Los Angeles

Dr. Santoro serves as the Director of Neuroimmunology and Demyelinating Disorders Program and Director of Research for the Neurologic Institute at Children’s Hospital Los Angeles. He is also an Associate Professor of Neurology and Pediatrics at the Keck School of Medicine at USC. Dr. Santoro completed his undergraduate, masters, and medical degrees at Tulane University. He completed residencies in pediatrics and child neurology at Stanford University which was followed by sub-specialty training in neuroimmunology at Harvard Medical School. Dr. Santoro is one of only a handful of national physician-scientists who treat neurologic disorders associated with Down syndrome. Dr. Santoro’s research focus is in identifying the mechanisms of neurologic disease in individuals with Down syndrome and unraveling the role of neuroinflammation in these disorders. His research in cerebrovascular disorders such as moyamoya vasculopathy and neuroinflammatory conditions such as Down Syndrome Regression Disorder in this population is internationally recognized, making Children’s Hospital Los Angeles and the Keck School of Medicine a hub for research in these areas. In addition to Dr. Santoro’s research in neuroinflammation in Down syndrome, he leads multiple national and international research investigations in other pediatric onset inflammatory disorders such as multiple sclerosis, myelin oligodendrocyte glycoprotein associated disease (MOGAD) and other neurogenetic conditions and leukodystrophies such as Aicardi Goutières Syndrome. Dr. Santoro is a perpetual advocate for persons with disabilities at both the state and federal level through the American Medical Association and the American Academy of Neurology.

Julia Dallman, PhD, University of Miami

Julia Dallman is an associate professor in the Department of Biology and director of the University of Miami Zebrafish Facility. Using zebrafish as a model, her research seeks to understand how genetic mutations linked to autism impact function along the gut/brain axis. In particular, her lab focuses on zebrafish shank3ab and syngap1ab models that both show altered gut motility, though with distinct underlying mechanisms. Since 2023, she has teamed up with gastroenterologists (Bennett and Moshiree), software/UX engineers (Baker and Millet), and an epidemiologist focusing on GI symptoms in autism (Holingue) to better understand and characterize gastrointestinal (GI) transit, or “motility”, in people with Phelan-McDermid syndrome. With feedback from community, the team has created and optimized the STRiPES mobile-based application that allows caregivers to keep track of GI symptoms. Symptom tracking was then paired with measuring whole gut transit time using blue muffins that were sent to households all over the US. Individuals with Phelan-McDermid syndrome then consumed the blue muffins and caregivers tracked GI symptoms, specifically how long it takes for the blue muffin to go through the digestive system. This at-home approach is intended to reveal how GI symptoms vary with genetics and age in people with Phelan-McDermid Syndrome.

Kristina T. Johnson, PhD, Assistant Professor, Northeastern University, Department of Electrical & Computer Engineering | College of Engineering, Department of Communication Sciences & Disorders | Bouvé College of Health Sciences, Assistant Professor Adjunct, Yale School of Medicine, Department of Neurosurgery | Wu Tsai Neurosciences Institute, Research Affiliate, Massachusetts Institute of Technology, Affective Computing | MIT Media Lab, Northeastern University

Dr. Kristina (Kristy) Johnson is an Assistant Professor at Northeastern University, jointly appointed in Electrical & Computer Engineering and Communication Sciences & Disorders. She holds an additional faculty appointment at the Yale School of Medicine. Kristy received her Ph.D. in Affective Computing from MIT and was a postdoctoral fellow at Boston Children’s Hospital and Harvard Medical School in the Rosamund Stone Zander Translational Neuroscience Center. She also holds an M.S. and Honors B.S. in Physics. Her research focuses on individuals with complex neurodevelopmental differences, especially those with autism, intellectual disabilities, rare genetic disorders, and minimal spoken speech. She works at the intersection of science and engineering, specializing in personalized naturalistic studies, developmental science, digital healthcare, and augmentative technology. She is also the parent of a child with a rare genetic neurodevelopmental disorder and autism.

Latha Valluripalli Soorya, PhD, BCBA, Associate Professor | Department of Psychiatry & Behavioral Sciences, Director | AARTS Center, Rush University Medical Center

Latha Valluripalli Soorya, PhD is a clinical psychologist, board certified behavior analyst, Associate Professor, and Director of the AARTS Center, a lifespan autism program in the Department of Psychiatry and Behavioral Sciences at Rush University Medical Center. Dr. Valluripalli Soorya specializes in complex neurodevelopmental conditions, focusing her clinical research and clinical care on social, emotional, and behavioral needs in neurodevelopmental conditions. Dr. Valluripalli Soorya is also active in teaching and service, holding positions on training faculty in several institutions and local advocacy and philanthropic boards.

Milena Andzelm, MD, PhD, Neuroimmunologist, Boston Children’s Hospital; Instructor of Neurology, Harvard Medical School

Dr. Milena Andzelm is a pediatric neuroimmunologist at Boston Children’s Hospital with a clinical focus on genetic predisposition to neuroinflammatory disorders. She received her MD and PhD in Immunology from Harvard Medical School and then completed pediatric neurology residency and a neuroimmunology fellowship at Boston Children’s Hospital. When not seeing patients, she studies basic mechanisms underlying how human genetic variation influences the response of neural cells to inflammation. More recently, inspired by her patients, she has developed a clinical research project examining mechanisms of neuroinflammation in Phelan-McDermid Syndrome funded by the PMSF Neuropsychiatric Illness and Regression Fellowship.

Natasha Ludwig, PhD, Neuropsychologist, Assistant Professor of Psychiatry and Behavioral Sciences, Kennedy Krieger; Johns Hopkins School of Medicine

Dr. Ludwig is a pediatric neuropsychologist at Kennedy Krieger Institute and an Assistant Professor of Psychiatry and Behavioral Sciences at The Johns Hopkins School of Medicine. She also serves as the Program Director of the Developmental Neuropsychology Phenotyping Unit at the Kennedy Krieger/Johns Hopkins School of Medicine Intellectual and Developmental Disabilities Research Center (IDDRC). Her clinical work is focused on serving individuals with neurogenetic conditions associated with severe to profound intellectual disability and profound autism. Dr. Ludwig’s research is focused on neurodevelopmental phenotyping and patient-focused outcome measure development for clinical trial readiness.

Pilar Trelles, MD, Boston Children’s Hospital; Harvard Medical School

Pilar Trelles, MD, is Associate Chief of Psychiatry for the Outpatient Psychiatry Service at Boston Children’s Hospital and Assistant Professor of Psychiatry at Harvard Medical School. A child and adolescent psychiatrist specializing in neurodevelopmental disabilities, she has spent her career building clinical and research programs that translate advances in genetics and neuroscience into care that is practical, equitable, and grounded in family experience.

Originally from Lima, Peru, Dr. Trelles brings a community-engaged perspective to her work with youth who have complex developmental and psychiatric needs. Her research combines psychiatric genetics, careful clinical phenotyping, and close partnership with families to better understand and treat neurobehavioral symptoms in rare neurodevelopmental conditions, including Phelan-McDermid syndrome.

A long-standing member of the PMS Neuropsychiatric Consultation Group, Dr. Trelles is co-leading work with Tess Levy to adapt and validate the PIPS into a longitudinal, caregiver-informed tool using ecological momentary assessment. Together, they aim to give families and clinicians a way to track psychiatric symptoms in real time, guide treatment decisions, and advance trial readiness for individuals with PMS and related conditions.

Sid Srivastava, MD, Assistant Professor of Neurology, Harvard Medical School, Boston Children’s Hospital

Dr. Siddharth Srivastava is an Associate Professor of Neurology at Harvard Medical School/ Boston Children’s Hospital and a physician-scientist with expertise in genetic neurodevelopmental disorders (NDDs), including Phelan-McDermid Syndrome (PMS).  His overall mission is to improve the lives of children with neurogenetic and NDDs by translating scientific discoveries into meaningful clinical practice changes and future innovations. He leverages a multi-modal approach encompassing (1) gene discovery, (2) neurodevelopmental phenotyping, (3) biomarker identification, and (4) precision medicine trials. He serves as a Co-Investigator in the Developmental Synaptopathies Consortium, and he has conducted multiple interventional clinical trials for genetic NDDs. Formally trained in neurodevelopmental disabilities and neurogenetics, he provides comprehensive care to individuals with complex neurodevelopmental and neurogenetic presentations at Boston Children’s Hospital, where he co-directs the Section on Neurogenetics & Neurodevelopment and leads several  clinics for genetic NDDs, including for PMS.

Somer Bishop, PhD, Weill Institute for Neurosciences at the University of California

Somer Bishop is a clinical psychologist and Professor in Residence in the Department of Psychiatry and Behavioral Sciences and the Weill Institute for Neurosciences at the University of California, San Francisco. Dr. Bishop’s research interests focus on the assessment of social-communication and restricted and repetitive behaviors characteristic of autism spectrum disorders (ASD), and how these symptom dimensions are affected by individual and contextual factors across the lifespan. At the UCSF Center for ASDs and NDDs, Dr. Bishop participates in comprehensive, multi-disciplinary assessment and treatment of children and adults with neurodevelopmental disorders. She directs the diagnostic training program, conducting trainings on best diagnostic practices for professionals from all over the world.

William E. Bennett, MD, MS, Associate Professor of Pediatrics, Pediatric Gastroenterology, Hepatology, and Nutrition , Scientific Director, Indiana CTSI Patient Engagement Core, Adjunct Associate Professor of Urology, Indiana University School of Medicine

Dr. Bennett is a pediatric gastroenterologist, clinical informatician, decision scientist, and computer scientist at Indiana University School of Medicine. His daughter, Cecilia, has Phelan-McDermid syndrome, which has driven an interest in developing programs that meet the subspecialty needs of children with complex developmental gastrointestinal problems. He has board certifications in pediatrics, gastroenterology, and clinical informatics. His research focuses on using health information technology to improve providers’ adherence to evidence based medicine, automated screening for anxiety and depression in subspecialties, and understanding patient and family preferences related to the use of immunosuppression. Dr. Bennett also specializes in the analysis of very large clinical data sets using cutting edge computational methods to analyze practice patterns, minimize costs, and track patient outcomes. He has a clinical interest in family-centered care and the complex needs of families with special needs children. He is a member of PMSF’s Medical Advisory Committee and has been active in contributing to the Phelan-McDermid syndrome clinical consensus guidelines, among other medical and scientific initiatives. He is a leader of the NIH-funded R13 Consortium focused on GI disorders in people with neurodevelopmental conditions, CANDID.

Teresa M. Kohlenberg, MD, Assistant Professor, University of Massachusetts Medical School
Member, Phelan-McDermid Syndrome Neuropsychiatric Consultation Group (ECHO)

Dr. Kohlenberg is a board certified pediatrician with Fellowship training both in Developmental-Behavioral Pediatrics and Child and Adolescent Psychiatry. For the past thirty years she has worked in Psychiatry, both in private practice and as an Assistant Professor in Psychiatry at the University of Massachusetts Chan Medical School. 

Dr. Kohlenberg is the mother of an adult daughter who was diagnosed with a SHANK3 variant at age 16, after two years of complex neuropsychiatric illness. She has conducted and published research on psychiatric illness and regression in PMS, and helped to found the PMS Neuropsychiatric Consultation Group, which supports doctors caring for PMS patients with puzzling psychiatric difficulties. Dr. Kohlenberg is a member of the PMSF Medical Advisory Committee, and with support from the PMSF serves as a consultant and liaison to PMS families and their teams around the world facing neuropsychiatric illness.

Tess Levy, CGC, Assistant Professor of Psychiatry, Clinical Trials Manager, Icahn School of Medicine at Mount Sinai

Tess Levy is an Assistant Professor of Psychiatry and Clinical Trials Manager at the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai. She completed her undergraduate degree at McGill University in Montreal, Quebec as well as her Masters degree in Genetic Counseling. She is currently working on her PhD in Clinical Research at the Icahn School of Medicine. Tess studies rare genetic disorders associated with neurodevelopment, including Phelan-McDermid syndrome. She is specifically interested in how variations in genotypes can relate to clinical features.