2023
- Metzler M, Burns W, Mitchell C, Napolitano S, Chaudhari BP A case report of necrotizing enterocolitis in a moderately preterm neonate with LCHADD-A call to focus on the basics while utilizing advanced new therapies. Front Pediatr 2023 11 1081802
- Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. J Clin Immunol 2023 Feb 43 247-270
2022
- Abreu NJ, Siemon AE, Baylis AL, Kirschner RE, Pfau RB, Ho ML, Hickey SE, Truxal KV Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Clin Case Rep 2022 Feb 10 e05277
- Abreu NJ, Siemon AE, Baylis AL, Kirschner RE, Pfau RB, Ho ML, Hickey SE, Truxal KV Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Clin Case Rep 2022 Feb 10 e05277
- Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant. J Child Neurol 2022 Apr 6 8830738221089741
- Brokamp G, Mori M, Faith EF Pseudoxanthoma Elasticum. JAMA Dermatol 2022 Jan 1 158 100
- Burns W, Chaudhari BP, Haffner DN Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders. Semin Pediatr Neurol 2022 Jul 42 100972
- Caceres V, Murray T, Myers C, Parbhoo K Prenatal Genetic Testing and Screening: A Focused Review. Semin Pediatr Neurol 2022 Jul 42 100976
- Chaudhari BP, Ho ML Congenital Brain Malformations: An Integrated Diagnostic Approach. Semin Pediatr Neurol 2022 Jul 42 100973
- Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U, Aggarwal S, Beneteau C, Cacheiro P, Carmody LC, Collardeau-Frachon S, Dempsey EA, Dufke A, Duyzend MH, El Ghosh M, Giordano JL, Glad R, Grinfelde I, Iliescu DG, Ladewig MS, Munoz-Torres MC, Pollazzon M, Radio FC, Rodo C, Silva RG, Smedley D, Sundaramurthi JC, Toro S, Valenzuela I, Vasilevsky NA, Wapner RJ, Zemet R, Haendel MA, Robinson PN Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. Am J Med Genet C Semin Med Genet 2022 Jul 24
- Fair SR, Schwind W, Julian D, Biel A, Guo G, Rutherford R, Ramadesikan S, Westfall J, Miller KE, Kararoudi MN, Hickey SE, Mosher TM, McBride KL, Neinast R, Fitch J, Lee D, White P, Wilson RK, Bedrosian TA, Koboldt DC, Hester ME Cerebral organoids containing an AUTS2 missense variant model microcephaly. Brain 2022 Jul 8
- Forrest ME, Meyer AP, Laureano Figueroa SM, Antonellis A A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy. Cold Spring Harb Mol Case Stud 2022 Oct 28
- Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C >?T) variant of GALT. J Inherit Metab Dis 2022 Sep 12
- Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C >?T) variant of GALT. J Inherit Metab Dis 2022 Sep 12
- Latsko MS, Koboldt DC, Franklin SJ, Hickey SE, Williamson RK, Garner S, Ostendorf AP, Lee K, White P, Wilson RK De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy. Cold Spring Harb Mol Case Stud 2022 May 9
- Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford) 2022 Apr 12
- Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS Case Report And Review Of The Literature: Immune Dysregulation In A Large Familial Cohort Due To A Novel Pathogenic RELA Variant. Rheumatology (Oxford) 2022 Apr 12
- Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A 2022 Oct 22
- Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Am J Med Genet A 2022 Oct 22
- Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties. J Mol Diagn 2022 Jun 16
- Meyer AP, Forrest ME, Nicolau S, Wiszniewski W, Bland MP, Tsao CY, Antonellis A, Abreu NJ Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes. Hum Mutat 2022 Mar 25
- Raca G, Astbury C, Behlmann A, De Castro MJ, Hickey SE, Karaca E, Lowther C, Riggs ER, Seifert BA, Thorland EC, Deignan JL, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2022 Dec 9
- Ramadesikan S, Hickey SE, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. Cold Spring Harb Mol Case Stud 2022 Jan 28
- Richard C, Manning A, Peason G, Hickey SE, Scott AR, Grischkan J Type IA Oromandibular-Limb Hypogenesis Syndrome: A Case Report and A Case Update. Cureus 2022 May 14 e24647
- van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genet Med 2022 May 17
- Wojcik MH, Fishler KP, Chaudhari BP Re: "Next generation sequencing in neonatology: what does it mean for the next generation?". Hum Genet 2022 Nov 10
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