March 2022

Editorial Board
Published in issue: March 2022
A1

Masthead
Published in issue: March 2022
A2

Posters

eP001: Newborn screening experience for very long chain Acyl-CoA Dehydrogenase (VLCAD) deficiency in Kuwait
• Fatima Alabdulrazzaq,
• Hind AlSharhan,
• Amir Ahmed,
• ...
• Dina Ramadan,
• May Al-Rushood,
• Laila Bastaki
Published in issue: March 2022
S1
eP002: Pilot study of insulin-like growth factor 1 on differing metabolic responders with Phelan-McDermid syndrome: Preliminary results
• Bridgette Allen,
• Luigi Boccuto,
• Diana Ivankovic,
• Sara Sarasua
Published in issue: March 2022
S1-S2
eP003: Novel use of IL-1 inhibition via canakinumab in two patients with lysinuric protein intolerance and immune dysregulation
• Thomas Michniacki,
• Elizabeth Ames
Published in issue: March 2022
S2
eP004: Screening for metabolic abnormalities in a cohort of patients with hypermobility
• Kiley Boone,
• Gabrielle Pomorski,
• Ilana Miller,
• Debra Regier,
• Kimberly Chapman
Published in issue: March 2022
S3
eP005: Complex glycerol kinase deficiency and X-linked intellectual disability
• Kerri Bosfield,
• Claire Williamson,
• Xiaowei Fu
Published in issue: March 2022
S3
eP006: Homocystinuria in an adolescent patient with Chr21q22.2q22.3 deletion
• Holly Brown,
• Benjamin Weil,
• David Tegay,
• Laura Pisani,
• Peyman Bizargity
Published in issue: March 2022
S4
eP007: Delayed onset hyperammonemic encephalopathy in an adult with GLUD1 deficiency
• Bharatendu Chandra,
• Moon Ley Tung,
• Kristen Surom,
• Jaclyn Kotlarek,
• John Bernat,
• Amy Calhoun
Published in issue: March 2022
S4
eP008: Cystathionine beta synthase deficiency patients are being missed by newborn screening
• Kimberly Chapman,
• Danae Bartke,
• Margie McGlynn,
• Harvey Levy,
• Can Ficicioglu
Published in issue: March 2022
S5
eP009: Identification of a novel exonic deletion in the GALNS gene causing Morquio syndrome
• Kathryn DeLong,
• Annette Feigenbaum,
• Laura Pollard,
• Andrew Lay,
• Timothy Wood
Published in issue: March 2022
S5-S6
eP010: Conservative management with serial biochemical monitoring for newborn screen detected Maple Syrup Urine Disease (MSUD) patients without metabolic decompensation
• Danielle DeMarzo-Burdsall,
• Yazmin Enchautegui Colon,
• Ashley Ethriedge,
• Michelle Peters,
• Chelsie Hollas,
• Anne Tsai
Published in issue: March 2022
S6
eP011: Diagnosis of DNAJC12-deficient hyperphenylalaninemia offers targeted therapeutic options to counteract neurotransmitter deficiency
• Colleen Donnelly,
• Jaya Ganesh,
• Emalyn Cork,
• ...
• Jessica Sahota,
• Lauren Mason,
• Suzanne Miller
Published in issue: March 2022
S6-S7
eP012: Biochemical characterization of single minded-1 missense variants associated with severe obesity
• Megan Vogel,
• Ida Moeller,
• Alastair Garfield,
• Bhavik Shah
Published in issue: March 2022
S7
eP013: Novel biomarkers of succinic semialdehyde dehydrogenase deficiency highlight opportunities for screening and detection of GABA catabolism pathway abnormalities
• Charul Gijavanekar,
• Laura Mackay,
• Theresa Wilson,
• Alice McConnell,
• Sarah Elsea
Published in issue: March 2022
S8
eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients
• Shelly Goomber,
• Erin Huggins,
• Catherine Rehder,
• Jennifer L. Cohen,
• Deeksha Bali,
• Priya Kishnani
Published in issue: March 2022
S9-S10
eP015: COQ5 compound heterozygous variants in a family with global developmental delay, seizures, spastic paraparesis, and stroke
• Jorge Granadillo,
• Samantha Toy
Published in issue: March 2022
S11
eP016: Biochemical diagnosis of pterin defect after negative broad genetic evaluation
• Kirsten Havens,
• Joshua Baker,
• Erika Vucko,
• Sarah Jurgensmeyer
Published in issue: March 2022
S11-S12
eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy
• Jessica Jang,
• Marjan Huizing,
• Andrea Bowling,
• ...
• Nuria Carrillo,
• William Gahl,
• Francis Rossignol
Published in issue: March 2022
S12
eP018: Late-onset congenital erythropoietic porphyria associated with myeloid malignancy
• Freyr Johannsson,
• Silvia Tortorelli,
• Cecilia Arana Yi,
• Surbhi Shah
Published in issue: March 2022
S12-S13
eP019: Case presentation: Dual diagnosis of LCHAD deficiency and type 1 diabetes mellitus and complexities of management
• Abigail Kacpura,
• Paige Roberts,
• David Rodriguez-Buritica,
• Laura Farach
Published in issue: March 2022
S13
eP020: Expanding the clinical spectrum of asparagine synthetase deficiency
• Shagun Kaur,
• Darius Adams,
• Mark Fitzgerald,
• Kierstin Keller,
• Irma Payan-Walters,
• Rebecca Ahrens-Nicklas
Published in issue: March 2022
S14
eP021: Case report of a Mexican family with alpha mannosidosis and a novel probably pathogenic variant in the MAN2B1 gene
• Brissia Lazalde,
• Leonardo Pérez-Mejía,
• Vanessa Velasco-Lazalde,
• Beatriz Fuentes-Cortéz,
• José García-Ortíz
Published in issue: March 2022
S14-S15
eP022: Action myoclonus-renal failure syndrome: An atypical storage disorder with a treatment dilemma
• Mary Kate LoPiccolo,
• Ayuko Iverson,
• Manisha Balwani
Published in issue: March 2022
S15-S16
eP024: Metabolomic mapping of rhizomelic chondrodysplasia punctata
• Laura Mackay,
• Michael Wangler,
• Nancy Braverman,
• ...
• Pranjali Bhagwat,
• Joseph Hacia,
• Wedad Fallatah
Published in issue: March 2022
S16
eP025: Novel phenotype of aortic root dilatation and late onset of metabolic decompensation in patient with TMEM70 deficiency
• Laura Mackay,
• Fernando Scaglia,
• Haley Streff
Published in issue: March 2022
S17
eP026: Newborn screening for Pompe disease: The Indiana experience
• Molly McPheron,
• Katherine Sapp
Published in issue: March 2022
S17-S18
eP027: Screening for co-incident TANGO2 related metabolic encephalopathy and arrhythmia syndrome in 22q11 deletion syndrome
• Joshua Meisner,
• Elizabeth Ames
Published in issue: March 2022
S18
eP028: Neurological manifestations in PMM2 related congenital disorders of glycosylation (CDG): Insights into clinico-radiological characteristics and recommendations for follow-up
• Karthik Muthusamy,
• Anna Ligezka,
• Christin Johnsen,
• Suzanne Boyer,
• Eva Morava-Kozicz
Published in issue: March 2022
S19
eP029: Response of an infant with presumed type II multiple Acyl-CoA dehydrogenase deficiency to ketone supplementation
• Bryce Schuler,
• Erica Nelson,
• Natalie Owen,
• ...
• Angela Grochowsky,
• Thomas Morgan,
• John Phillips
Published in issue: March 2022
S19
eP030: Effect of peanut butter consumption on C26 concentrations in breastmilk -- Implications for X-ALD newborn screening
• Anna Scott,
• Irene Chang
Published in issue: March 2022
S20
eP031: Clinical and biochemical characterization of carnitine palmitoyltransferase-2 deficiency and novel case exacerbated by heterozygosity with partial carnitine transporter deficiency
• Brian Shayota,
• Bijina Balakrishnan,
• Lorenzo Botto,
• Marzia Pasquali,
• Nicola Longo
Published in issue: March 2022
S20-S21
eP032: Measurement of Nicotinamide Adenine Dinucleotide (NAD+) from dried blood spot cards
• Sara Smith,
• Erica Fox,
• Liliya Euro,
• ...
• Priya Kishnani,
• Taraka Donti,
• Madhuri Hegde
Published in issue: March 2022
S21-S22
eP033: COASY-associated pontocerebellar hypoplasia – A possible additional secondary target detectable by expanded newborn screening?
• Zinandré Stander,
• Justin Rosati,
• Jessica Johnson,
• ...
• Amy White,
• Mark Morrissey,
• Piero Rinaldo
Published in issue: March 2022
S22
eP034: Novel use of global untargeted metabolomics in a patient with glycogen storage disease Ib receiving off label empagliflozin treatment
• Eran Tallis,
• Cecile Karsenty,
• Amanda Grimes,
• ...
• Brandy Rawls-Castillo,
• Ning Liu,
• Claudia Soler-Alfonso
Published in issue: March 2022
S22-S23
eP035: Genotype-phenotype correlation of glycogen storage disease type IV
• Anne Taylor,
• Jennifer Carroll,
• Aimee Jalkanen,
• Mari Mori
Published in issue: March 2022
S23
eP036: Not your typical newborn screen for X-ALD: Outcomes from Washington State
• Jenny Thies,
• Erika Beckman,
• Anna Scott,
• Irene Chang,
• Angela Sun,
• Christina Lam
Published in issue: March 2022
S24
eP037: Biochem for the Win! The added value of biochemical genetic testing for diagnosis and variant interpretation in the genomic era
• Christina Tise,
• Katheryn Grand,
• Jose Morales Corado,
• ...
• Justin Mak,
• Tina Cowan,
• Kristina Cusmano-Ozog
Published in issue: March 2022
S24
eP038: A new biochemical assay to measure plasmalogens with CLIR disease differentiation
• Peter Wegwerth,
• Dimitar Gavrilov,
• Amy White,
• ...
• Kimiyo Raymond,
• Stephanie Stoway,
• Perry Loken
Published in issue: March 2022
S25
eP039: Does Lynch syndrome cause predisposition to breast cancer? Experience from a hereditary breast cancer clinic in Pakistan
• Fizza Akbar,
• Zahraa Siddiqui,
• M. Talha Waheed,
• ...
• Khurram Minhas,
• Abida Sattar,
• Salman Kirmani
Published in issue: March 2022
S26-S27
eP040: Breast cancer patients categorized as high-risk of recurrence and/or basal-type molecular subtype by Agendia should universally undergo germline genetic testing
• Brenna Bentley,
• Chloe Wernecke,
• Kelly Bontempo,
• ...
• Pat Whitworth,
• Rakesh Patel,
• Peter Beitsch
Published in issue: March 2022
S27
eP041: How long will they wait? Applying updated NCCN criteria to previously unqualified patients reveals missed opportunities for personalized cancer management
• Kelly Bontempo,
• Eric Brown,
• Chloe Wernecke,
• ...
• Jessica Kreamer,
• Peter Beitsch,
• Rakesh Patel
Published in issue: March 2022
S27-S28
eP042: Highly sensitive blocker displacement amplification-based qPCR approach in detecting low level JAK2 variant
• Zheng Wang,
• Frank Mularo,
• Cailin Weller,
• Alessandro Pinto,
• David Yu Zhang,
• Yu-Wei Cheng
Published in issue: March 2022
S28
eP043: Membrane Metalloendopeptidase (MME) positively regulates Phosphoinositide 3-Kinase (PI3K) signaling in triple negative breast cancer
• Mirna Mina,
• Rebecca Conway,
• Reed Haga,
• ...
• Edom Seyoum,
• Tarek Alhamami,
• Misal Zaki
Published in issue: March 2022
S29
eP045: Papillary renal cell carcinoma, glioma and colon polyps in a patient with novel POT1 variant
• Leslie Dunnington,
• Laura Farach,
• Devesh Pandya
Published in issue: March 2022
S30
eP047: Germline cancer predisposition variants in a cohort of early-onset Merkel cell carcinoma patients
• Devin Hunt,
• Noreen Mohsin,
• Paul Nghiem,
• ...
• Rajarshi Ghosh,
• Isaac Brownell,
• Magdalena Walkiewicz-Yvon
Published in issue: March 2022
S30-S31
eP048: Identifying cancer predisposition in a series of 1,521 pediatric oncology patients by tumor-only panel-based testing
• Jianling Ji,
• Ryan Schmidt,
• Venkata Yellapantula,
• ...
• Matthew Deardorff,
• Gordana Raca,
• Jaclyn Biegel
Published in issue: March 2022
S31
eP049: Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies
• Ramakrishna Koduru,
• Franklin Fuda,
• Mingy Chen,
• ...
• Jeffrey SoRelle,
• Jeffrey Gagan,
• Rolando Garcia
Published in issue: March 2022
S31-S32
eP050: Cytogenomic profiling and clinical correlation of 21q22 amplification in acute myeloid leukemia reveal distinct cytogenomic features and poor outcomes
• Emily Kudalkar,
• Meng Su,
• Liming Bao,
• ...
• Manali Kamdar,
• Gang Xu,
• Karen Swisshelm
Published in issue: March 2022
S32
eP052: Coding defects in chromosomal segregation and protein targeting are central to TGCT predisposition
• Louise Pyle,
• Jung Kim,
• Jonathan Bradfield,
• ...
• Mark Greene,
• Katherine Nathanson,
• Douglas Stewart
Published in issue: March 2022
S32-S33