American journal of medical genetics. Part C, Seminars in medical genetics

Keyphrases

Publications

2024

Alexandra C Keefe
First a Provider, Now a Patient: Receiving a Devastating Diagnosis Through the Patient Portal. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Victoria Mok Siu, Jennifer Michelle Siu
Circles. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Victoria Mok Siu
Genesis and genetics of a miracle. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Simone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, Giacomo Bacci, Giorgia Panichella, Martino Montomoli, Gaetano Cantalupo, Stefania Bigoni, Giorgia Mancano, Simona Pellacani, Vincenzo Leuzzi, Nila Volpi, Francesco Mari, Federico Melani, Mara Cavallin, Tiziana Pisano, Giulio Porcedda, Augusto Vaglio, Davide Mei, Carmen Barba, Elena Parrini, Renzo Guerrini
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Suzanne Hollander, Harvey Levy, Fran Rohr, Susan Waisbren, Priscila Rincon, Ann Wessel, Stephanie Sacharow
Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Eric Rubenstein, Salina Tewolde, Brian G Skotko, Amy Michals, Juan Fortea
Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016-2019. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Sophia R Meyer, Tara L Wenger
A plot TWIST. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Ayesha Harisinghani, Clorinda Cottrell, Karen Donelan, Alice D Lam, Margaret Pulsifer, Stephanie L Santoro
Practicalities (and real-life experiences) of dementia in adults with Down syndrome. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Amanda Barone Pritchard
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Damla Gonullu-Rotman
Significance of Variants of Uncertain Significance: The Human Cost of Genetic Uncertainty. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Ryann Bierer, Janessa Mladucky, Rebecca Anderson, John C Carey
Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Arthur Lenahan
Negative, normal, nondiagnostic. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Elizabeth K Baker
Blonde hair, blue eyes. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Linda Z Rossetti
On stillness. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Taylor Kerrins
Shattered Dreams: Reflections on Loss and Resilience. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Golda Grinberg
The dream of a diagnosis. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Meghan N Bartos, Anna C E Hurst, Caterina Abdala Villa
Direct-to-consumer genome sequencing helps a mother take her child's diagnostic odyssey into her own hands. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Xu-Ying Li, Zhanjun Wang, Yanping Yang, Ruichai Lin, Chaodong Wang
Domain-specific phenotypes in LINS1-related disorder-A Chinese family with the Q92X variant and literature review. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Kimberly Senko, Kelsey L Saddoris, Ella Baus, Katherine C Soe, Samuel E Vaughn
Catatonia responsive to corticosteroids in a patient with an SCN2A variant. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Jenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, Dima Qu'd, Geraldine Kelly-Mancuso, Carolyn R Serbinski, Allison Goetsch Weisman, Madison Hankins, Michael Sawin, Katherine Kim, Andy Drackley, Janice Zeid, K Nicole Weaver, Robert J Hopkin, Howard M Saal, Joel Charrow, Elizabeth Schorry, Robert Listernick, Brittany N Simpson, Carlos E Prada
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Henri Margot, Adrien Pizano, Anouck Amestoy, Didier Lacombe, Camille Berges, Claire Beneteau, A Micheil Innes
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Shanlee M Davis, Craig C Teerlink, Julie A Lynch, Natalia Klamut, Bryan R Gorman, Meghana S Pagadala, Matthew S Panizzon, Victoria C Merritt, Giulio Genovese, Judith L Ross, Richard L Hauger
An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Sujata Bardhan, Huiqing Li, Erika Tarver, Charlene Schramm, Marishka Brown, Linda Garcia, Bryanna Schwartz, Anna Mazzucco, Nikila Natarajan, Elizabeth Walsh, Laurie Ryan, Gail Pearson, Melissa A Parisi
The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Brittany M Holmes, Suzanne Hollander, Stephanie Sacharow
Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova, Diana Carli, Alfredo Brusco, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Matthew L Tedder, Cindy D Skinner, Mariëlle Alders, Peter Henneman, Raoul C M Hennekam, Claudia Ciaccio, Stefano D'Arrigo, Antonio Vitobello, Laurence Olivier-Faivre, Sacha Weber, Aline Vincent-Devulder, Laurence Perrin, Alexia Bourgois, Toshiyuki Yamamoto, Kay Metcalfe, Marcella Zollino, Usha Kini, Daniela Oliveira, Sergio B Sousa, Denise Williams, Gerarda Cappuccio, Bekim Sadikovic, Nicola Brunetti-Pierri
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Anisa Bibi, Weizhen Ji, Lauren Jeffries, Cynthia Zerillo, Monica Konstantino, Emily K Mis, Filza Khursheed, Mustafa K Khokha, Saquib A Lakhani, Sajid Malik
Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Ariel Ellen Shaver Lee
Invisible strings. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Alessandro Vaisfeld, Giovanni Neri
Simpson-Golabi-Behmel syndrome. American journal of medical genetics. Part C, Seminars in medical genetics (2024)

volume 196, number 1, 2024

Sujata Bardhan, Huiqing Li, Erika Tarver, Charlene Schramm, Marishka Brown, Linda Garcia, Bryanna Schwartz, Anna Mazzucco, Nikila Natarajan, Elizabeth Walsh, Laurie Ryan, Gail Pearson, Melissa A Parisi
The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan. American journal of medical genetics. Part C, Seminars in medical genetics 196 (1) (2024)
Sujata Bardhan, Huiqing Li, Erika Tarver, Charlene Schramm, Marishka Brown, Linda Garcia, Bryanna Schwartz, Anna Mazzucco, Nikila Natarajan, Elizabeth Walsh, Laurie Ryan, Gail Pearson, Melissa A Parisi
The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan. American journal of medical genetics. Part C, Seminars in medical genetics 196 (1) (2024)
Sujata Bardhan, Huiqing Li, Erika Tarver, Charlene Schramm, Marishka Brown, Linda Garcia, Bryanna Schwartz, Anna Mazzucco, Nikila Natarajan, Elizabeth Walsh, Laurie Ryan, Gail Pearson, Melissa A Parisi
The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan. American journal of medical genetics. Part C, Seminars in medical genetics 196 (1) (2024)
Sujata Bardhan, Huiqing Li, Erika Tarver, Charlene Schramm, Marishka Brown, Linda Garcia, Bryanna Schwartz, Anna Mazzucco, Nikila Natarajan, Elizabeth Walsh, Laurie Ryan, Gail Pearson, Melissa A Parisi
The National Institutes of Health INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) Project: Accelerating research discoveries for people with Down syndrome across the lifespan. American journal of medical genetics. Part C, Seminars in medical genetics 196 (1) (2024)

volume 193, number 4, 2024

2023

Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith-Rae Dias, Krystle Standen, Carey-Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung-Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding-Byth, Bekim Sadikovic, Jason Pinner, Michael F Buckley, Tony Roscioli
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Ayesha Harisinghani, Amar Dhand, Ellen Hollands Steffensen, Brian G Skotko
Sustainability of personal social networks of people with Down syndrome. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Imen F Alkuraya
Is artificial intelligence getting too much credit in medical genetics? American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Benjamin D Solomon, Wendy K Chung
Artificial intelligence and the impact on medical genetics. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Maya Weaver, Andrew McCormick
Healthy transition: Roadmap for young adults with down syndrome to adulthood. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Tzung-Chien Hsieh, Peter M Krawitz
Computational facial analysis for rare Mendelian disorders. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Philip John Brooks, Tiina K Urv, Melissa A Parisi
Gene-targeted therapies: Overview and implications. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Amy M Gaviglio, Mark W Skinner, Lily J Lou, Richard S Finkel, Erika F Augustine, Aaron J Goldenberg
Gene-targeted therapies: Towards equitable development, diagnosis, and access. American journal of medical genetics. Part C, Seminars in medical genetics (2023)

volume 193, number 1, 2023

Julie Lekstrom-Himes, Philip John Brooks, Dwight D Koeberl, Amy M Brower, Aaron J Goldenberg, Robert C Green, Jill A Morris, Joseph J Orsini, Timothy W Yu, Erika F Augustine
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies. American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)
Melissa A Parisi, Michele Caggana, Jennifer L Cohen, Nina B Gold, Jill A Morris, Joseph J Orsini, Tiina K Urv, Melissa P Wasserstein
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective. American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)
Tiina K Urv, Melissa A Parisi
Note from the editors. American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)
Timothy W Yu, Stephen F Kingsmore, Robert C Green, Tippi MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B Gold, Annie Kennedy, Priya S Kishnani, Matthew Might, Phillip J Brooks, Jill A Morris, Melissa A Parisi, Tiina K Urv
Are we prepared to deliver gene-targeted therapies for rare diseases? American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)
Louis P Garrison, Andrew W Lo, Richard S Finkel, Patricia A Deverka
A review of economic issues for gene-targeted therapies: Value, affordability, and access. American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)
Amy M Gaviglio, Mark W Skinner, Lily J Lou, Richard S Finkel, Erika F Augustine, Aaron J Goldenberg
Gene-targeted therapies: Towards equitable development, diagnosis, and access. American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)
Julie Lekstrom-Himes, Erika F Augustine, Amy M Brower, Thomas Defay, Richard S Finkel, Amy L McGuire, Mark W Skinner, Timothy W Yu
Data sharing to advance gene-targeted therapies in rare diseases. American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)
Philip John Brooks, Tiina K Urv, Melissa A Parisi
Gene-targeted therapies: Overview and implications. American journal of medical genetics. Part C, Seminars in medical genetics 193 (1) (2023)