Research & Clinical Summary
Genetic causes of neurodevelopmental disorders including epilepsy and intellectual disability.
Interests: Genetic Disease, Genomics, Neurodevelopment & Neurodegeneration
Publications
The following publications were retrieved from PubMed:
Carvill GL, Mefford HC, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A,
“CHD2-Related Neurodevelopmental Disorders”
. (1993): .
Mefford H, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A,
“17q12 Recurrent Duplication”
. (1993): .
Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D, Villeneuve N, Zacher P, Scheffer IE, Lemke JR,
“The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.”
Epilepsia 62.2 (2021 Feb): 325-334.
Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O’Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC,
“Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.”
Genetics in medicine : official journal of the American College of Medical Genetics 23.5 (2021 May): 881-887.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS,
“The severe epilepsy syndromes of infancy: A population-based study.”
Epilepsia 62.2 (2021 Feb): 358-370.
Jeffrey JS, Leathem J, King C, Mefford HC, Ross K, Sadleir LG,
“Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.”
Epilepsia open 6.1 (2021 Mar): 149-159.
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Care4Rare Canada Consortium., Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K,
“Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.”
Genetics in medicine : official journal of the American College of Medical Genetics 23.4 (2021 Apr): 796.
Myers KA, Marini C, Carvill GL, McTague A, Panetta J, Stutterd C, Stanley T, Marin S, Nguyen J, Barba C, Rosati A, Scott RH, Mefford HC, Guerrini R, Scheffer IE,
“Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.”
Neurology. Genetics 7.2 (2021 Apr): e579.
Mefford HC,
“Antiepileptic Drugs as Teratogens: The Mechanism Remains a Mystery.”
Epilepsy currents 20.6 (2020 Nov-Dec): 365-366.
Braden RO, Amor DJ, Fisher SE, Mei C, Myers CT, Mefford H, Gill D, Srivastava S, Swanson LC, Goel H, Scheffer IE, Morgan AT,
“Severe speech impairment is a distinguishing feature of FOXP1-related disorder.”
Developmental medicine and child neurology . (2021 Jun 9): .
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T, German Competence Network for Congenital Heart Defects., Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR,
“Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.”
Genetics in medicine : official journal of the American College of Medical Genetics . (2021 Jun 10): .
Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH, Undiagnosed Diseases Network (UDN)., McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL,
“Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.”
Annals of neurology 90.2 (2021 Aug): 274-284.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS, University of Washington Center for Mendelian Genomics., King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE,
“Targeted long-read sequencing identifies missing disease-causing variation.”
American journal of human genetics 108.8 (2021 Aug 5): 1436-1449.
Carvill GL, Jansen S, Lacroix A, Zemel M, Mehaffey M, De Vries P, Brunner HG, Scheffer IE, De Vries BBA, Vissers LELM, Mefford HC,
“Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.”
Developmental medicine and child neurology . (2021 Jul 11): .
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O’Leary M, O’Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A,
“Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.”
Brain : a journal of neurology . (2021 Aug 20): .