Publications

• Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome.
  J Clin Sleep Med
  03/21/2025 Authors: Yoo M; Shah A; Shahrour H; Li H; Kasi AS
• A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
  Genes (Basel) Volume: 15
  08/06/2024 Authors: Borroto MC; Michaud C; Hudon C; Agrawal PB; Agre K; Applegate CD; Beggs AH; Bjornsson HT; Callewaert B; Chen M-J
• Inborn errors of metabolism and pregnancy.
  Am J Obstet Gynecol MFM Volume: 6 Page(s): 101399
  08/01/2024 Authors: Murphey K; Krishna I; Li H
• Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.
  Front Mol Neurosci Volume: 17 Page(s): 1222935
  01/01/2024 Authors: Efthymiou S; Han W; Ilyas M; Li J; Yu Y; Scala M; Malintan NT; Ilyas M; Vavouraki N; Mankad K
• Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.
  Am J Med Genet A Volume: 191 Page(s): 718 - 729
  03/01/2023 Authors: Valverde de Morales HG; Wang H-LV; Garber K; Cheng X; Corces VG; Li H
• Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
  Am J Med Genet A Volume: 191 Page(s): 130 - 134
  01/01/2023 Authors: Gonzalez A; Smith GH; Gambello MJ; Sokolov J; Koich V; Li H
• 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 Volume: 45 Page(s): 1106 - 1117
  11/01/2022 Authors: Katler QS; Stepien KM; Paull N; Patel S; Adams M; Balci MC; Berry GT; Bosch AM; DeLaO A; Demirbas D
• Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I.
  Am J Med Genet A Volume: 188 Page(s): 2707 - 2711
  09/01/2022 Authors: Murphey K; George PE; Pencheva B; Porter CC; Wechsler SB; Gambello MJ; Li H
• Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
  Genet Med Volume: 24 Page(s): 1941 - 1951
  09/01/2022 Authors: Kry S; Zhang J; Besnard T; Caro-Llopis A; Zeng X; Robert SM; Josiah SS; Kiziltug E; Denomm-Pichon A-S; Cogn B
• A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism.
  Am J Med Genet A Volume: 188 Page(s): 2429 - 2433
  08/01/2022 Authors: Reyes Diaz JV; Jin Y; Garber K; Cossen KM; Li Y; Jin P; Li H; Ham J-YN
• EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
  Volume: 30 Page(s): 246 - 247
  04/01/2022 Authors: Hueffmeier UD; Kraus C; Reuter MS; Uebe S; Abbott M-A; Ahmed SA; Rawson KL; Barr E; Li H; Bruel A-L
• PIGN encephalopathy: Characterizing the epileptology.
  Epilepsia Volume: 63 Page(s): 974 - 991
  04/01/2022 Authors: Bayat A; de Valles-Ibez G; Pendziwiat M; Knaus A; Alt K; Biamino E; Bley A; Calvert S; Carney P; Caro-Llopis A
• Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
  Am J Hum Genet Volume: 109 Page(s): 361 - 372
  02/03/2022 Authors: Kry S; Ebstein F; Moll A; Besnard T; Lee M-K; Vignard V; Hery T; Nizon M; Mancini GMS; Giltay JC
• Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach.
  J Multidiscip Healthc Volume: 15 Page(s): 455 - 469
  01/01/2022 Authors: Kasi AS; Li H; Harford K-L; Lam HV; Mao C; Landry AM; Mitchell SG; Clifton MS; Leu RM
• Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.
  J Clin Sleep Med Volume: 17 Page(s): 2049 - 2055
  10/01/2021 Authors: Kasi AS; Li H; Jurgensen TJ; Guglani L; Keens TG; Perez IA
• Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
  Genome Med Volume: 13 Page(s): 55
  04/12/2021 Authors: Yap ZY; Park YH; Wortmann SB; Gunning AC; Ezer S; Lee S; Duraine L; Wilichowski E; Wilson K; Mayr JA
• Retrospective study of the disease course in pediatric patients with severe MMA caused by MMUT mutations: design and baseline characteristics
  Volume: 132 Page(s): S23 - S25
  04/01/2021 Authors: Enns G; Baker P; Li H; Morgan T; Vockley J
• Case report of acutemyeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I
  Volume: 132 Page(s): S18 - S19
  04/01/2021 Authors: Ferriero K; George P; Pencheva B; Porter C; Gambello M; Li H
• Identification of adult patients with significantly elevated homocysteine due to inborn errors of metabolism, using key existing clinical data points
  Volume: 132 Page(s): S3 - S5
  04/01/2021 Authors: Garcia AG; Li H
• The importance of clinical judgement in interpreting molecular results: a case of glycogen storage disease type III?
  Volume: 132 Page(s): S14 - S15
  04/01/2021 Authors: Black E; Romero R; Li H
• Psychosocial insights of parents of pediatric primary immune deficient (PID) patients who had genetic testing
  Volume: 41 Page(s): S105 - S105
  04/01/2021 Authors: Singh S; Lichten L; Ali N; Gray C; Li H; Chandrakasan S
• EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
  Orphanet J Rare Dis Volume: 16 Page(s): 136
  03/18/2021 Authors: Hffmeier U; Kraus C; Reuter MS; Uebe S; Abbott M-A; Ahmed SA; Rawson KL; Barr E; Li H; Bruel A-L
• Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
  Genet Med Volume: 23 Page(s): 534 - 542
  03/01/2021 Authors: Snijders Blok L; Vino A; den Hoed J; Underhill HR; Monteil D; Li H; Reynoso Santos FJ; Chung WK; Amaral MD; Schnur RE
• Heterozygous variants disturbing the transcriptional repressor activity of FOXP4 cause a disorder with expressive language deficits, congenital abnormalities and divergent growth parameters
  Volume: 28 Page(s): 335 - 336
  12/01/2020 Authors: Blok LS; Vino A; Underhill H; Monteil D; Li H; Santos FR; Chung WK; Amaral M; Schnur RE; Sim T
• Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns.
  Int J Neonatal Screen Volume: 6
  10/23/2020 Authors: Hall PL; Li H; Hagar AF; Jerris SC; Wittenauer A; Wilcox W
• A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.
  Cold Spring Harb Mol Case Stud Volume: 6
  06/01/2020 Authors: Gonzalez Garcia A; Malone J; Li H
• Successful desensitization of Pegvaliase (Palynziq) in a patient with phenylketonuria.
  Mol Genet Metab Rep Volume: 23 Page(s): 100575
  06/01/2020 Authors: Patrawala M; Kuruvilla M; Li H
• Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy.
  Sci Rep Volume: 9 Page(s): 11371
  08/06/2019 Authors: Xue J; Wang J; Gong P; Wu M; Yang W; Jiang S; Wu Y; Jiang Y; Zhang Y; Yuzyuk T
• HOLOCARBOXYLASE SYNTHETASE DEFICIENCY IN THE ERA OF THE NEWBORN SCREENING; BIOCHEMICAL PATTERNS FOLLOWING ELEVATED C5OH MASQUERADING AS 3-MCC DEFICIENCY
  Volume: 127 Page(s): 247 - 247
  07/01/2019 Authors: Alali A; Li H; Sanchez R; Neira J; Gambello M
• [Standard training and certification of clinical geneticist in the United States].
  Zhonghua Yi Xue Yi Chuan Xue Za Zhi Volume: 36 Page(s): 28 - 31
  01/10/2019 Authors: Li H; Chung BH-Y; Wang W; Dai H; Tsai AC-H
• [Standardization and accreditation of training programs in clinical genetics in the United States].
  Zhonghua Yi Xue Yi Chuan Xue Za Zhi Volume: 36 Page(s): 7 - 12
  01/10/2019 Authors: Wang W; Dai H; Chung BH-Y; Li H; Tsai AC-H
• The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy.
  Front Pediatr Volume: 7 Page(s): 337
  01/01/2019 Authors: Wang J; Xue J; Gong P; Wu M; Yang W; Jiang S; Wu Y; Jiang Y; Zhang Y; Yuzyuk T
• Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia.
  AJP Rep Volume: 9 Page(s): e10 - e14
  01/01/2019 Authors: Merves M; Parsons K; Alazraki A; Meisel J; Sauer C; Li H
• The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine.
  Mol Genet Metab Rep Volume: 17 Page(s): 46 - 52
  12/01/2018 Authors: Li H; Zhao L; Singh R; Ham JN; Fadoju DO; Bean LJH; Zhang Y; Xu Y; Xu HE; Gambello MJ
• Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review.
  J Pediatr Volume: 202 Page(s): 315 - 319.e2
  11/01/2018 Authors: Mullikin D; Pillai N; Sanchez R; O'Donnell-Luria AH; Kritzer A; Tal L; Almannai M; Berry GT; Gambello MJ; Li H
• Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform.
  Am J Med Genet A Volume: 176 Page(s): 1641 - 1647
  07/01/2018 Authors: Sadhwani A; Sanjana NE; Willen JM; Calculator SN; Black ED; Bean LJH; Li H; Tan W-H
• Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
  Mol Genet Metab Volume: 123 Page(s): 428 - 432
  04/01/2018 Authors: Li H; Byers HM; Diaz-Kuan A; Vos MB; Hall PL; Tortorelli S; Singh R; Wallenstein MB; Allain M; Dimmock DP
• FIRST REPORTED PEDIATRIC CASE OF GLUCAGON RECEPTOR DYSFUNCTION IDENTIFIED THROUGH NEWBORN SCREENING
  Volume: 123 Page(s): 207 - 208
  03/01/2018 Authors: Li H; Singh R; Bean L; Gambello MJ
• Current strategies for the treatment of inborn errors of metabolism.
  J Genet Genomics Volume: 45 Page(s): 61 - 70
  02/20/2018 Authors: Gambello MJ; Li H
• A case report of successful treatment of patient experiencing infusion associated reactions with sebelipase alfa
  Volume: 123 Page(s): S88 - S88
  02/01/2018 Authors: Long V; Li H; Patel K; Malloy V
• Identification of lysosomal acid lipase (LAL) deficiency patients using key existing clinical data points focused on BMI, type 2 hyperlipidemia, and/or fatty liver disease
  Volume: 120 Page(s): S86 - S86
  01/01/2017 Authors: Long V; Laney D; Shankar S; Li H
• IDENTIFIYING PATIENTS WITH VLCAD DEFICIENCY PRESENTING WITH AN ABNORMAL NBS USING INTEGRATED METHODS
  Volume: 117 Page(s): 282 - 282
  03/01/2016 Authors: Sanchez RL; Singh RH; Gambello M; Wittenauer A; Narlow K; Hall P; Li H
• PRISM 301: AN OPEN-LABEL, RANDOMIZED, PHASE 3 CLINICAL TRIAL EVALUATING EFFICACY AND SAFETY OF PEGVALIASE FOR THE TREATMENT OF ADULTS WITH PHENYLKETONURIA
  Volume: 117 Page(s): 268 - 268
  03/01/2016 Authors: Longo N; Amato S; Vocldey J; Wierenga K; Li H; Bilder D; Burton B; Dimmock D; Harding C; Posner J
• BRAIN MALFORMATION, OCULAR MALFORMATION, AND CONNECTIVE TISSUE DISORDER- EXPANDING THE PHENOTYPE OF A NOVEL COPPER DEFICIENCY SYNDROME
  Volume: 167 Page(s): 1712 - 1712
  08/01/2015 Authors: Tan WH; Marinakis N; Yi L; Kurek KC; Lawlor MW; Towne MC; Joshi M; Li H; Beggs AH; Kinsman SL
• A novel homozygous exonic splicing mutation in the mut gene causing isolated methylmalonic aciduria
  Volume: 114 Page(s): 355 - 355
  03/01/2015 Authors: Li H; Lin L; Diaz-Kuan A; Cunto M; Hall P; Xue Y; Jin P
• The association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysis.
  Mol Autism Volume: 6 Page(s): 17
  01/01/2015 Authors: Fujita-Jimbo E; Tanabe Y; Yu Z; Kojima K; Mori M; Li H; Iwamoto S; Yamagata T; Momoi MY; Momoi T
• Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.
  Mol Genet Metab Volume: 112 Page(s): 242 - 246
  07/01/2014 Authors: Li H; Spencer L; Nahhas F; Miller J; Fribley A; Feldman G; Conway R; Wolf B
• Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency.
  Mol Genet Metab Volume: 112 Page(s): 49 - 56
  05/01/2014 Authors: Pindolia K; Li H; Cardwell C; Wolf B
• Mutation in Parkinson disease-associated, G-protein-coupled receptor 37 (GPR37/PaelR) is related to autism spectrum disorder.
  PLoS One Volume: 7 Page(s): e51155
  01/01/2012 Authors: Fujita-Jimbo E; Yu Z-L; Li H; Yamagata T; Mori M; Momoi T; Momoi MY
• Mutation analysis of 44 children with biotinidase deficiency identified by newborn screening in Michigan
  Volume: 102 Page(s): 300 - 300
  03/01/2011 Authors: Li H; Spencer L; Nahhas F; Conway R; Wolf B; Feldman G
• Mutation analysis of methyl-CpG binding protein family genes in autistic patients.
  Brain Dev Volume: 27 Page(s): 321 - 325
  08/01/2005 Authors: Li H; Yamagata T; Mori M; Yasuhara A; Momoi MY
• Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.
  Brain Dev Volume: 27 Page(s): 207 - 210
  04/01/2005 Authors: Li H; Yamagata T; Mori M; Momoi MY
• 7q candidate gene screening in autistic disorder.
  Volume: 73 Page(s): 511 - 511
  11/01/2003 Authors: Mori M; Yamagata T; Li H; Goto T; Suwa K; Yasuhara A; Momoi MY
• Mutation analysis for candidate genes in Japanese autistic population.
  Volume: 71 Page(s): 489 - 489
  10/01/2002 Authors: Yamagata T; Li H; Mori M; Suwa K; Momoi MY
• Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1.
  J Hum Genet Volume: 47 Page(s): 262 - 265
  01/01/2002 Authors: Li H; Yamagata T; Mori M; Momoi MY
• Candidate gene screening on Japanese autism patients.
  AMERICAN JOURNAL OF HUMAN GENETICS Volume: 69 Page(s): 551 - 551
  10/01/2001 Authors: Yamagata T; Li H; Mori M; Suwa K; Yasuhara A; Momoi MY
• CTCF-Related Disorder
  GeneReviews
  01/01/1993 Authors: Li H